Sox30 MGI Mouse Gene Detail - MGI:1341157 - SRY (sex determining region Y)-box 30

Symbol

Sox30
Name

SRY (sex determining region Y)-box 30

Feature Type

protein coding gene
IDs

MGI:1341157
NCBI Gene: 214105
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr11:45871137-45908821 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 27.49 cM
Mapping Data

2 experiments

SNPs within 2kb

732 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1341157	protein coding gene	Chr11:45869873-45908824 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018187	protein coding gene	Chr11:44866010-44901174 (+)
A/J	MGP_AJ_G0018159	protein coding gene	Chr11:43147424-43181675 (+)
AKR/J	MGP_AKRJ_G0018123	protein coding gene	Chr11:44388346-44426802 (+)
BALB/cJ	MGP_BALBcJ_G0018128	protein coding gene	Chr11:43313062-43345597 (+)
C3H/HeJ	MGP_C3HHeJ_G0017942	protein coding gene	Chr11:44434914-44472495 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018582	protein coding gene	Chr11:46208748-46241197 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016237	protein coding gene	Chr11:41143433-41174770 (+)
CAST/EiJ	MGP_CASTEiJ_G0017505	protein coding gene	Chr11:44544193-44584101 (+)
CBA/J	MGP_CBAJ_G0017914	protein coding gene	Chr11:48362370-48400924 (+)
DBA/2J	MGP_DBA2J_G0018024	protein coding gene	Chr11:42899921-42932574 (+)
FVB/NJ	MGP_FVBNJ_G0018018	protein coding gene	Chr11:42579700-42611026 (+)
LP/J	MGP_LPJ_G0018096	protein coding gene	Chr11:45117557-45156045 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018042	protein coding gene	Chr11:49911813-49952129 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018621	protein coding gene	Chr11:44557844-44591245 (+)
PWK/PhJ	MGP_PWKPhJ_G0017285	protein coding gene	Chr11:42979559-43011703 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017078	protein coding gene	Chr11:44343385-44379186 (+)
WSB/EiJ	MGP_WSBEiJ_G0017555	protein coding gene	Chr11:44251325-44289322 (+)

Human Ortholog

SOX30, SRY-box transcription factor 30

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SOX30, SRY-box transcription factor 30
Links

HGNC:30635

NCBI Gene ID: 11063

neXtProt AC: NX_O94993

UniProt: O94993
Chr Location

5q33.3; chr5:157625679-157671480 (-) GRCh38

MGI Vertebrate Homology

Sox30 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: SOX30
Gene Tree

Sox30

Diseases

2 with human SOX30 associations

				Human Disease	Mouse Models
				hepatocellular carcinoma IDs hepatocellular carcinoma DOID:684 DOID:5005 EFO:0000182 ICD10CM:C22.0 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 UMLS_CUI:C2239176
				lung cancer IDs lung cancer DOID:1324 DOID:13075 DOID:1322 DOID:9881 ICD10CM:C34.1 ICD10CM:C34.2 ICD10CM:C34.3 ICD9CM:162.3 ICD9CM:162.4 ICD9CM:162.5 ICD9CM:162.8 OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210 UMLS_CUI:C0024624 UMLS_CUI:C0153491 UMLS_CUI:C0153492 UMLS_CUI:C0153493

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

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Phenotype Summary

18 phenotypes from 5 alleles in 5 genetic backgrounds
16 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

11
Chemically induced (other)

1
Endonuclease-mediated

4
Targeted

6
Genomic Mutations

1 involving Sox30
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Nullizygous mutations of this gene result in male infertility associated with arrest of spermiogenesis at the round spermatid stage and azoospermia. Increased male germ cell apoptosis and multinucleated giant male germ cells are observed.

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All GO Annotations

30
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

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

991
Tissues

153
cDNA Data

5
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

30
RefSeq

4
UniProt

1
CCDS

CCDS24570.1

Ensembl

ENSMUSG00000040489 (Evidence)
NCBI Gene

214105

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040489	Ensembl Gene Model \| MGI Sequence Detail	37685	C57BL/6J	± kb
transcript	ENSMUST00000049038	Ensembl \| MGI Sequence Detail	2997	Not Applicable
polypeptide	ENSMUSP00000037519	Ensembl \| MGI Sequence Detail	782	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000015429 transcription factor SOX-30

(term hierarchy)
InterPro Domains

IPR009071 High mobility group box domain

IPR036910 High mobility group box domain superfamily

IPR052856 SOX30 Transcription Factor

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All nucleic 11

cDNA 5

Primer pair 5

Other 1

Microarray probesets 2

Summaries

All 47

Developmental Gene Expression 12

Gene Ontology 7

Phenotypes 16
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

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

TSS for Sox30:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101081	Chr11:45870142-45870149 (+)	-991 bp
Tssr101082	Chr11:45871053-45871060 (+)	-80 bp
Tssr101083	Chr11:45871082-45871100 (+)	-46 bp
Tssr101084	Chr11:45871136-45871164 (+)	13 bp
Tssr101085	Chr11:45871180-45871189 (+)	48 bp
Tssr101086	Chr11:45872059-45872069 (+)	927 bp
Tssr101087	Chr11:45882544-45882586 (+)	11,428 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