Poli MGI Mouse Gene Detail - MGI:1347081 - polymerase (DNA directed), iota

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Poli Gene Detail

Symbol

Poli
Name

polymerase (DNA directed), iota
Synonyms

Rad30b

Feature Type

protein coding gene
IDs

MGI:1347081
NCBI Gene: 26447
Alliance

gene page
Transcription Start Sites

3 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr18:70641751-70663691 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 44.48 cM, cytoband E2
Mapping Data

5 experiments

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SNPs within 2kb

709 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1347081	protein coding gene	Chr18:70641751-70668021 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024544	protein coding gene	Chr18:70984179-71000136 (-)
A/J	MGP_AJ_G0024511	protein coding gene	Chr18:67872118-67888505 (-)
AKR/J	MGP_AKRJ_G0024482	protein coding gene	Chr18:69878990-69900725 (-)
BALB/cJ	MGP_BALBcJ_G0024511	protein coding gene	Chr18:68043687-68059413 (-)
C3H/HeJ	MGP_C3HHeJ_G0024279	protein coding gene	Chr18:69984323-70003556 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024957	protein coding gene	Chr18:72815830-72831884 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022388	protein coding gene	Chr18:67162768-67178648 (-)
CAST/EiJ	MGP_CASTEiJ_G0023752	protein coding gene	Chr18:70091347-70107123 (-)
CBA/J	MGP_CBAJ_G0024248	protein coding gene	Chr18:75304852-75320832 (-)
DBA/2J	MGP_DBA2J_G0024378	protein coding gene	Chr18:67500259-67520378 (-)
FVB/NJ	MGP_FVBNJ_G0024344	protein coding gene	Chr18:66856307-66872281 (-)
LP/J	MGP_LPJ_G0024462	protein coding gene	Chr18:70835885-70856907 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024374	protein coding gene	Chr18:76550606-76571348 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025005	protein coding gene	Chr18:70046778-70063762 (-)
PWK/PhJ	MGP_PWKPhJ_G0023496	protein coding gene	Chr18:67856510-67872446 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023300	protein coding gene	Chr18:70172417-70189990 (-)
WSB/EiJ	MGP_WSBEiJ_G0023815	protein coding gene	Chr18:69977225-69993338 (-)

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Human Ortholog

POLI, DNA polymerase iota

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

POLI, DNA polymerase iota
Synonyms

eta2, RAD30B, RAD3OB
Links

HGNC:9182

NCBI Gene ID: 11201

neXtProt AC: NX_Q9UNA4

UniProt: Q9UNA4
Chr Location

18q21.2; chr18:54269479-54321266 (+) GRCh38

MGI Vertebrate Homology

Poli stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: POLI
Protein SuperFamily

DPol_eta
Gene Tree

Poli

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Phenotype Summary

2 phenotypes from 2 alleles in 2 genetic backgrounds
5 phenotypes from multigenic genotypes
20 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

15
Endonuclease-mediated

2
Gene trapped

7
Spontaneous

1
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

45 strains or lines available

Mice homozygous for a spontaneous mutation show normal somatic hypermutation of immunoglobulin variable genes and no significant increase in UV-induced epithelial skin tumor formation relative to controls; in contrast, formation of mesenchymal tumors by chronic UV irradiation is enhanced.

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All GO Annotations

12
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

713
Tissues

5
cDNA Data

34
Literature Summary

2

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase poli

ZFIN poli

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All Sequences

95
RefSeq

31
UniProt

13
CCDS

CCDS29334.2, CCDS50317.1, CCDS79660.1

Ensembl

ENSMUSG00000038425 (Evidence)
NCBI Gene

26447

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000038425	Ensembl Gene Model \| MGI Sequence Detail	21941	C57BL/6J	± kb
	transcript	ENSMUST00000121674	Ensembl \| MGI Sequence Detail	2778	Not Applicable
	polypeptide	ENSMUSP00000112563	Ensembl \| MGI Sequence Detail	737	Not Applicable

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UniProt

13 Sequences
Protein Ontology

PR:000012976 DNA polymerase iota

(term hierarchy)
PDB

2KWU, 2KWV, 3AI4
EC

2.7.7.7
InterPro Domains

IPR024728 DNA polymerase type-Y, HhH motif

IPR017961 DNA polymerase, Y-family, little finger domain

IPR036775 DNA polymerase, Y-family, little finger domain superfamily

IPR043502 DNA/RNA polymerase superfamily

IPR025527 HUWE1/REV1, ubiquitin-binding motif

IPR043128 Reverse transcriptase/Diguanylate cyclase domain

IPR001126 UmuC domain

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All nucleic 35

Genomic 1

cDNA 34

Microarray probesets 3

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Summaries

All 51

Developmental Gene Expression 2

Gene Ontology 7

Phenotypes 20
Earliest

J:57245 McDonald JP, et al., Novel human and mouse homologs of Saccharomyces cerevisiae DNA polymerase eta. Genomics. 1999 Aug 15;60(1):20-30
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Poli:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr153841	Chr18:70663384-70663397 (-)	300 bp
Tssr153840	Chr18:70663290-70663355 (-)	368 bp
Tssr153839	Chr18:70661680-70661685 (-)	2,008 bp

Poli is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Par2	Chr18, 44.19 cM	Chr18:70362333-76707156	J:98656	In a previous study, the Par2 (pulmonary adenoma resistance 2) locus was localized to a 2.4 Mb interval between D18Mit103 (44 cM) and D18Mit188 (47 cM). The current study examines possible candidate genes found within the Par2 critical region. These genes are 2310002L13Rik, Stard6 (44 cM), Poli, Mbd2 (44 cM), and Dcc (45 cM). Poli shows the strongest evidence as a Par2 candidate gene. Sequence analysis revealed 25 nucleotide polymorphisms between lung tumor susceptible strain A/J and lung tumor resistantstrain BALB/cJ resulting in 10 amino acid differences. Two different Poli alternative transcripts (exon 4a and exon 2d) were also observed in lung mRNA of A/J and BALB/cJ animals. The exon 4a isoform encodes a truncated protein due to a premature stop codon, and the exon 2d isoform results in the splicing out of exon 2 without disruption of the reading frame. Resistant strain BALB/cJ produces decreased levels of functional Poli protein due to increased expression of the exon 4a isoform. The Poli protein also displays functional differences and substrate preference between A/J and BALB/cJ strains.

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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