Stil MGI Mouse Gene Detail - MGI:107477 - Scl/Tal1 interrupting locus

Symbol

Stil
Name

Scl/Tal1 interrupting locus
Synonyms

Sil

Feature Type

protein coding gene
IDs

MGI:107477
NCBI Gene: 20460
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr4:114857356-114900393 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 52.73 cM
Mapping Data

3 experiments

SNPs within 2kb

1289 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107477	protein coding gene	Chr4:114857287-114900404 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028593	protein coding gene	Chr4:115766205-115812201 (+)
A/J	MGP_AJ_G0028555	protein coding gene	Chr4:111353416-111401576 (+)
AKR/J	MGP_AKRJ_G0028503	protein coding gene	Chr4:113652623-113698069 (+)
BALB/cJ	MGP_BALBcJ_G0028575	protein coding gene	Chr4:111986050-112029621 (+)
C3H/HeJ	MGP_C3HHeJ_G0028289	protein coding gene	Chr4:115273808-115317103 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029019	protein coding gene	Chr4:120240996-120289017 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026303	protein coding gene	Chr4:105443340-105486479 (+)
CAST/EiJ	MGP_CASTEiJ_G0027726	protein coding gene	Chr4:112688484-112734949 (+)
CBA/J	MGP_CBAJ_G0028257	protein coding gene	Chr4:123363328-123409430 (+)
DBA/2J	MGP_DBA2J_G0028406	protein coding gene	Chr4:111990394-112034081 (+)
FVB/NJ	MGP_FVBNJ_G0028374	protein coding gene	Chr4:110463744-110506308 (+)
LP/J	MGP_LPJ_G0028507	protein coding gene	Chr4:115970165-116015048 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028399	protein coding gene	Chr4:128506334-128549684 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029055	protein coding gene	Chr4:114902230-114945615 (+)
PWK/PhJ	MGP_PWKPhJ_G0027451	protein coding gene	Chr4:108786165-108843854 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027275	protein coding gene	Chr4:111296991-111341229 (+)
WSB/EiJ	MGP_WSBEiJ_G0027804	protein coding gene	Chr4:114684094-114727610 (+)

Human Ortholog

STIL, STIL centriolar assembly protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

STIL, STIL centriolar assembly protein
Synonyms

MCPH7, SIL
Links

HGNC:10879

NCBI Gene ID: 6491

neXtProt AC: NX_Q15468

UniProt: Q15468
Chr Location

1p33; chr1:47250139-47314896 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: STIL
Gene Tree

Stil

Diseases

1 with human STIL associations

				Human Disease	Mouse Models
				primary autosomal recessive microcephaly 7 IDs primary autosomal recessive microcephaly 7 DOID:0070278 OMIM:612703

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

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Phenotype Summary

9 phenotypes from 1 allele in 1 genetic background
3 phenotypes from multigenic genotypes
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)

2
Endonuclease-mediated

2
Gene trapped

2
Radiation induced

1
Targeted

4
Genomic Mutations

4 involving Stil
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

45 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene die as embryos with various neural tube defects.

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All GO Annotations

45
GO References

9

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

812
Tissues

104
cDNA Data

67
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA STIL

Xenbase stil

ZFIN stil

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All Sequences

69
RefSeq

15
UniProt

8
CCDS

CCDS18485.1

Ensembl

ENSMUSG00000028718 (Evidence)
NCBI Gene

20460

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028718	Ensembl Gene Model \| MGI Sequence Detail	43038	C57BL/6J	± kb
transcript	ENSMUST00000030490	Ensembl \| MGI Sequence Detail	5285	Not Applicable
polypeptide	ENSMUSP00000030490	Ensembl \| MGI Sequence Detail	1262	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000015735 SCL-interrupting locus protein

(term hierarchy)
InterPro Domains

IPR026123 SCL-interrupting locus protein

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All nucleic 71

cDNA 69

Primer pair 1

Other 1

Microarray probesets 4

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MGD-MRK-36044

Summaries

All 49

Developmental Gene Expression 6

Gene Ontology 9

Phenotypes 16
Earliest

J:30658 Aplan PD, et al., Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia. Mol Cell Biol. 1991 Nov;11(11):5462-9
Latest

J:334512 He S, et al., Distinct dynein complexes defined by DYNLRB1 and DYNLRB2 regulate mitotic and male meiotic spindle bipolarity. Nat Commun. 2023 Mar 27;14(1):1715

TSS for Stil:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38426	Chr4:114857353-114857367 (+)	4 bp
Tssr38427	Chr4:114857371-114857386 (+)	23 bp
Tssr38428	Chr4:114857387-114857406 (+)	41 bp
Tssr38429	Chr4:114857418-114857426 (+)	66 bp
Tssr38430	Chr4:114857431-114857441 (+)	80 bp
Tssr38431	Chr4:114857444-114857465 (+)	99 bp
Tssr1266	Chr4:114861942-114861946 (+)	4,588 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