Ston1 MGI Mouse Gene Detail - MGI:1924307

Symbol

Ston1
Name

stonin 1
Synonyms

4921524J06Rik

Feature Type

protein coding gene
IDs

MGI:1924307
NCBI Gene: 77057
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr17:88905043-88955293 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 58.10 cM, cytoband E5
Mapping Data

3 experiments

SNPs within 2kb

1828 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924307	protein coding gene	Chr17:88905043-88970014 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024111	protein coding gene	Chr17:92095421-92156055 (+)
A/J	MGP_AJ_G0024071	protein coding gene	Chr17:89122626-89186323 (+)
AKR/J	MGP_AKRJ_G0024040	protein coding gene	Chr17:90612411-90674852 (+)
BALB/cJ	MGP_BALBcJ_G0024072	protein coding gene	Chr17:88947705-89010471 (+)
C3H/HeJ	MGP_C3HHeJ_G0023837	protein coding gene	Chr17:91508711-91568780 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024517	protein coding gene	Chr17:95299776-95372086 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021955	protein coding gene	Chr17:84180530-84245942 (+)
CAST/EiJ	MGP_CASTEiJ_G0023316	protein coding gene	Chr17:92377525-92441963 (+)
CBA/J	MGP_CBAJ_G0023810	protein coding gene	Chr17:99320340-99387136 (+)
DBA/2J	MGP_DBA2J_G0023939	protein coding gene	Chr17:87508378-87570131 (+)
FVB/NJ	MGP_FVBNJ_G0023905	protein coding gene	Chr17:87040170-87105163 (+)
LP/J	MGP_LPJ_G0024023	protein coding gene	Chr17:92889965-92955914 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023933	protein coding gene	Chr17:99108488-99170136 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024562	protein coding gene	Chr17:91159538-91231450 (+)
PWK/PhJ	MGP_PWKPhJ_G0023061	protein coding gene	Chr17:87205684-87264804 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022872	protein coding gene	Chr17:87896985-87963352 (+)
WSB/EiJ	MGP_WSBEiJ_G0023382	protein coding gene	Chr17:92019442-92084063 (+)

Human Ortholog

STON1, stonin 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

STON1, stonin 1
Synonyms

SALF, SBLF, STN1, STNB1
Links

HGNC:17003

NCBI Gene ID: 11037

neXtProt AC: NX_Q9Y6Q2

UniProt: Q9Y6Q2
Chr Location

2p16.3; chr2:48529383-48598513 (+) GRCh38

Human Ortholog

STON1-GTF2A1L, STON1-GTF2A1L readthrough
Synonyms

ALF, GTF2A1L, GTF2A1LF, SALF
Links

HGNC:30651

NCBI Gene ID: 286749

neXtProt AC: NX_Q9Y6Q2
Chr Location

2p16.3; chr2:48529925-48776519 (+) GRCh38

MGI Vertebrate Homology

Ston1 stringent orthology
2 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: STON1, STON1-GTF2A1L
Protein SuperFamily

Stonin
Gene Tree

Ston1

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
5 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

147
Gene trapped

146
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

49 strains or lines available

Mice homozygous for a knock-out allele are overtly normal. Mouse embryonic fibroblasts derived from homozygous null mice display alterations in focal adhesion dynamics and an increase in cellular signaling and directional cell migration.

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All GO Annotations

23
GO References

4

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

730
Tissues

15
cDNA Data

20
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ston1

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All Sequences

54
RefSeq

8
UniProt

3
CCDS

CCDS50207.1

Ensembl

ENSMUSG00000033855 (Evidence)
NCBI Gene

77057

			Length	Strain/Species	Flank
genomic	77057	NCBI Gene Model \| MGI Sequence Detail	50251	C57BL/6J	± kb
transcript	NM_029858	RefSeq \| MGI Sequence Detail	2983	C57BL/6
polypeptide	Q8CDJ8	UniProt \| EBI \| MGI Sequence Detail	730	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000015767 stonin-1

(term hierarchy)
InterPro Domains

IPR050431 Adaptor complexes medium subunit

IPR036168 AP-2 complex subunit mu, C-terminal superfamily

IPR028565 Mu homology domain

IPR017110 Stonin

IPR012320 Stonin homology
GlyGen

Q8CDJ8 1 site, 1 O-linked glycan (1 site)

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All nucleic 21

cDNA 21

Microarray probesets 4

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MGI:2147145

Summaries

All 34

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 5
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:227201 Feutlinske F, et al., Stonin1 mediates endocytosis of the proteoglycan NG2 and regulates focal adhesion dynamics and cell motility. Nat Commun. 2015;6:8535

TSS for Ston1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr146241	Chr17:88905047-88905056 (+)	9 bp
Tssr146242	Chr17:88905091-88905132 (+)	69 bp
Tssr146243	Chr17:88933958-88933976 (+)	28,924 bp
Tssr146244	Chr17:88933977-88933994 (+)	28,943 bp
Tssr146245	Chr17:88933997-88934032 (+)	28,972 bp
Tssr146246	Chr17:88934175-88934203 (+)	29,146 bp
Tssr146247	Chr17:88934787-88934862 (+)	29,782 bp
Tssr146248	Chr17:88934866-88934912 (+)	29,846 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)
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