Shld1 MGI Mouse Gene Detail - MGI:1920997 - shieldin complex subunit 1

Symbol

Shld1
Name

shieldin complex subunit 1
Synonyms

1110034G24Rik

Feature Type

protein coding gene
IDs

MGI:1920997
NCBI Gene: 73747
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr2:132528871-132592975 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 64.74 cM, cytoband F3
Mapping Data

3 experiments

SNPs within 2kb

2112 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920997	protein coding gene	Chr2:132528851-132592975 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026544	protein coding gene	Chr2:136299320-136372371 (+)
A/J	MGP_AJ_G0026508	protein coding gene	Chr2:130740332-130806321 (+)
AKR/J	MGP_AKRJ_G0026482	protein coding gene	Chr2:134523209-134595998 (+)
BALB/cJ	MGP_BALBcJ_G0026520	protein coding gene	Chr2:131139540-131212036 (+)
C3H/HeJ	MGP_C3HHeJ_G0026263	protein coding gene	Chr2:134961432-135029778 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026965	protein coding gene	Chr2:140435734-140520688 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024342	protein coding gene	Chr2:125472068-125536413 (+)
CAST/EiJ	MGP_CASTEiJ_G0025724	protein coding gene	Chr2:135297918-135370454 (+)
CBA/J	MGP_CBAJ_G0026243	protein coding gene	Chr2:145722210-145804157 (+)
DBA/2J	MGP_DBA2J_G0026377	protein coding gene	Chr2:130128195-130194483 (+)
FVB/NJ	MGP_FVBNJ_G0026341	protein coding gene	Chr2:128763703-128827833 (+)
LP/J	MGP_LPJ_G0026481	protein coding gene	Chr2:136535831-136603866 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026361	protein coding gene	Chr2:149446534-149520234 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027020	protein coding gene	Chr2:134487639-134555656 (+)
PWK/PhJ	MGP_PWKPhJ_G0025460	protein coding gene	Chr2:129737272-129805572 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025262	protein coding gene	Chr2:133640065-133710915 (+)
WSB/EiJ	MGP_WSBEiJ_G0025798	protein coding gene	Chr2:135402537-135477683 (+)

Human Ortholog

SHLD1, shieldin complex subunit 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SHLD1, shieldin complex subunit 1
Synonyms

C20orf196, RINN3
Links

HGNC:26318

NCBI Gene ID: 149840

neXtProt AC: NX_Q8IYI0

UniProt: Q8IYI0
Chr Location

20p12.3; chr20:5750193-5864395 (+) GRCh38

MGI Vertebrate Homology

Shld1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: SHLD1
Gene Tree

Shld1

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Phenotype Summary

14 phenotypes from 3 alleles in 3 genetic backgrounds
3 phenotypes from multigenic genotypes
17 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

171
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

163
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Shld1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

78 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele show defects in IgG1 class switch recombination but mice are viable and do not show any overt phenotypes.

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All GO Annotations

17
GO References

5

Molecular Function

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

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

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

706
cDNA Data

18

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

56
RefSeq

19
UniProt

3
CCDS

CCDS50727.1

Ensembl

ENSMUSG00000044991 (Evidence)
NCBI Gene

73747

			Length	Strain/Species	Flank
genomic	73747	NCBI Gene Model \| MGI Sequence Detail	64105	C57BL/6J	± kb
transcript	NM_028637	RefSeq \| MGI Sequence Detail	1249	C57BL/6
polypeptide	Q9D112	UniProt \| EBI \| MGI Sequence Detail	206	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000050586 shieldin complex subunit 1

(term hierarchy)
InterPro Domains

IPR027821 Shieldin complex subunit 1

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All nucleic 18

cDNA 18

Microarray probesets 4

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MGI:6156420

Summaries

All 43

Gene Ontology 5

Phenotypes 17
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

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

TSS for Shld1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20314	Chr2:132528864-132528902 (+)	12 bp
Tssr20315	Chr2:132532040-132532082 (+)	3,190 bp
Tssr20316	Chr2:132533804-132533823 (+)	4,943 bp
Tssr20317	Chr2:132533888-132533895 (+)	5,021 bp
Tssr20318	Chr2:132533917-132533928 (+)	5,052 bp
Tssr20319	Chr2:132533931-132533940 (+)	5,065 bp
Tssr20320	Chr2:132533942-132533967 (+)	5,084 bp
Tssr20321	Chr2:132537844-132537851 (+)	8,977 bp
Tssr20322	Chr2:132566211-132566220 (+)	37,345 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