Ss18l1 MGI Mouse Gene Detail - MGI:2444061 - SS18, nBAF chromatin remodeling complex subunit like 1

Symbol

Ss18l1
Name

SS18, nBAF chromatin remodeling complex subunit like 1
Synonyms

A230053O16Rik, CREST

Feature Type

protein coding gene
IDs

MGI:2444061
NCBI Gene: 269397
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr2:179684302-179711994 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 102.56 cM
Mapping Data

1 experiment

SNPs within 2kb

786 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444061	protein coding gene	Chr2:179684276-179711994 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026984	protein coding gene	Chr2:186539620-186567219 (+)
A/J	MGP_AJ_G0026950	protein coding gene	Chr2:178879069-178904910 (+)
AKR/J	MGP_AKRJ_G0026920	protein coding gene	Chr2:184230451-184256020 (+)
BALB/cJ	MGP_BALBcJ_G0026959	protein coding gene	Chr2:179341229-179366589 (+)
C3H/HeJ	MGP_C3HHeJ_G0026700	protein coding gene	Chr2:184589097-184614730 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027405	protein coding gene	Chr2:191932822-191961627 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024772	protein coding gene	Chr2:169570924-169597396 (+)
CAST/EiJ	MGP_CASTEiJ_G0026159	protein coding gene	Chr2:182829999-182857086 (+)
CBA/J	MGP_CBAJ_G0026677	protein coding gene	Chr2:198893834-198918942 (+)
DBA/2J	MGP_DBA2J_G0026815	protein coding gene	Chr2:177974359-177999337 (+)
FVB/NJ	MGP_FVBNJ_G0026781	protein coding gene	Chr2:176576519-176603044 (+)
LP/J	MGP_LPJ_G0026916	protein coding gene	Chr2:186527875-186556961 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026800	protein coding gene	Chr2:201542153-201570350 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027464	protein coding gene	Chr2:184193781-184222293 (+)
PWK/PhJ	MGP_PWKPhJ_G0025895	protein coding gene	Chr2:175485789-175511077 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025695	protein coding gene	Chr2:180688886-180714259 (+)
WSB/EiJ	MGP_WSBEiJ_G0026231	protein coding gene	Chr2:185163967-185191465 (+)

Human Ortholog

SS18L1, SS18L1 subunit of BAF chromatin remodeling complex

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SS18L1, SS18L1 subunit of BAF chromatin remodeling complex
Synonyms

CREST, LP2261, SMARCL2
Links

HGNC:15592

NCBI Gene ID: 26039

neXtProt AC: NX_O75177

UniProt: O75177
Chr Location

20q13.33; chr20:62143769-62182514 (+) GRCh38

MGI Vertebrate Homology

Ss18l1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: SS18L1
Gene Tree

Ss18l1

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Phenotype Summary

12 phenotypes from 3 alleles in 2 genetic backgrounds
1 phenotype from multigenic genotypes
8 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

9
Endonuclease-mediated

3
Gene trapped

2
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

18 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene have central nervous system and coordination defects. They grow slowly and usually die before adulthood. Those that do survive are infertile.

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All GO Annotations

23
GO References

14

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

729
Tissues

14
cDNA Data

10
Literature Summary

24

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ss18l1

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All Sequences

40
RefSeq

6
UniProt

1
CCDS

CCDS17167.1

Ensembl

ENSMUSG00000039086 (Evidence)
NCBI Gene

269397

			Length	Strain/Species	Flank
genomic	ENSMUSG00000039086	Ensembl Gene Model \| MGI Sequence Detail	27693	C57BL/6J	± kb
transcript	ENSMUST00000041126	Ensembl \| MGI Sequence Detail	4343	Not Applicable
polypeptide	ENSMUSP00000041288	Ensembl \| MGI Sequence Detail	402	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000015645 calcium-responsive transactivator

(term hierarchy)
InterPro Domains

IPR044779 SS18

IPR007726 SS18, N-terminal
GlyGen

Q8BW22 1 site, 1 O-linked glycan (1 site)

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All nucleic 10

cDNA 10

Microarray probesets 2

Summaries

All 59

Developmental Gene Expression 24

Gene Ontology 14

Phenotypes 8
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:344223 Zhang W, et al., NLRP14 deficiency causes female infertility with oocyte maturation defects and early embryonic arrest by impairing cytoplasmic UHRF1 abundance. Cell Rep. 2023 Dec 26;42(12):113531

TSS for Ss18l1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr22201	Chr2:179683504-179683531 (+)	-784 bp
Tssr22202	Chr2:179684289-179684355 (+)	20 bp
Tssr22203	Chr2:179684491-179684500 (+)	194 bp
Tssr22204	Chr2:179684508-179684520 (+)	212 bp
Tssr22205	Chr2:179684521-179684532 (+)	225 bp
Tssr22206	Chr2:179684536-179684584 (+)	258 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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