D630045J12Rik MGI Mouse Gene Detail - MGI:2669829

Symbol

D630045J12Rik
Name

RIKEN cDNA D630045J12 gene
Synonyms

mKIAA1549

Feature Type

protein coding gene
IDs

MGI:2669829
NCBI Gene: 330286
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr6:38100109-38230944 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 17.68 cM
Mapping Data

1 experiment

SNPs within 2kb

3758 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2669829	protein coding gene	Chr6:38100109-38231074 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0030582	protein coding gene	Chr6:36398373-36545737 (-)
A/J	MGP_AJ_G0030555	protein coding gene	Chr6:34830140-34961602 (-)
AKR/J	MGP_AKRJ_G0030482	protein coding gene	Chr6:35940846-36073111 (-)
BALB/cJ	MGP_BALBcJ_G0030565	protein coding gene	Chr6:35018855-35153313 (-)
C3H/HeJ	MGP_C3HHeJ_G0030278	protein coding gene	Chr6:35943210-36077228 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031019	protein coding gene	Chr6:37317238-37462950 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028231	protein coding gene	Chr6:32740672-32871645 (-)
CAST/EiJ	MGP_CASTEiJ_G0029680	protein coding gene	Chr6:35835282-35973118 (-)
CBA/J	MGP_CBAJ_G0030256	protein coding gene	Chr6:38743939-38893930 (-)
DBA/2J	MGP_DBA2J_G0030400	protein coding gene	Chr6:34650316-34781680 (-)
FVB/NJ	MGP_FVBNJ_G0030354	protein coding gene	Chr6:34438367-34570984 (-)
LP/J	MGP_LPJ_G0030487	protein coding gene	Chr6:36459844-36594427 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030390	protein coding gene	Chr6:41126557-41264328 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031049	protein coding gene	Chr6:35860180-36002451 (-)
PWK/PhJ	MGP_PWKPhJ_G0029394	protein coding gene	Chr6:34298474-34431189 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0029230	protein coding gene	Chr6:35580141-35719197 (-)
WSB/EiJ	MGP_WSBEiJ_G0029756	protein coding gene	Chr6:35804325-35939689 (-)

Human Ortholog

KIAA1549, KIAA1549

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KIAA1549, KIAA1549
Synonyms

RP86
Links

HGNC:22219

NCBI Gene ID: 57670

neXtProt AC: NX_Q9HCM3

UniProt: Q9HCM3
Chr Location

7q34; chr7:138831381-138981389 (-) GRCh38

MGI Vertebrate Homology

D630045J12Rik stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KIAA1549
Gene Tree

D630045J12Rik

Diseases

1 with human KIAA1549 associations

				Human Disease	Mouse Models
				retinitis pigmentosa 86 IDs retinitis pigmentosa 86 DOID:0112143 OMIM:618613

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
9 phenotype references

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

5
Endonuclease-mediated

2
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

83 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

2
GO References

2

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

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

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

824
Tissues

44
cDNA Data

79
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas

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All Sequences

44
RefSeq

2
UniProt

3
CCDS

CCDS51749.1

Ensembl

ENSMUSG00000063455 (Evidence)
NCBI Gene

330286

			Length	Strain/Species	Flank
genomic	ENSMUSG00000063455	Ensembl Gene Model \| MGI Sequence Detail	130836	C57BL/6J	± kb
transcript	ENSMUST00000169256	Ensembl \| MGI Sequence Detail	10968	Not Applicable
polypeptide	ENSMUSP00000130121	Ensembl \| MGI Sequence Detail	1940	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000060101 UPF0606 protein KIAA1549

(term hierarchy)
InterPro Domains

IPR024606 UPF0606 protein KIAA1549
GlyGen

Q68FD9 7 sites, 5 N-linked glycans (5 sites), 1 O-linked glycan (2 sites)

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All nucleic 81

cDNA 81

Microarray probesets 3

Summaries

All 33

Developmental Gene Expression 4

Gene Ontology 2

Phenotypes 9
Earliest

J:86686 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Aug 31;10(4):167-80
Latest

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

TSS for D630045J12Rik:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr60390	Chr6:38231209-38231262 (-)	-292 bp
Tssr60389	Chr6:38231149-38231202 (-)	-232 bp
Tssr60388	Chr6:38231044-38231090 (-)	-123 bp
Tssr60387	Chr6:38231022-38231043 (-)	-89 bp
Tssr60386	Chr6:38172315-38172362 (-)	58,605 bp
Tssr60385	Chr6:38124384-38124392 (-)	106,556 bp
Tssr60384	Chr6:38124376-38124382 (-)	106,565 bp
Tssr60383	Chr6:38124356-38124375 (-)	106,578 bp
Tssr60382	Chr6:38124315-38124342 (-)	106,615 bp
Tssr60381	Chr6:38124304-38124314 (-)	106,635 bp
Tssr60380	Chr6:38105162-38105183 (-)	125,771 bp
Tssr60379	Chr6:38105012-38105015 (-)	125,930 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24