Scmh1 MGI Mouse Gene Detail - MGI:1352762 - sex comb on midleg homolog 1

Symbol

Scmh1
Name

sex comb on midleg homolog 1
Synonyms

Scml3

Feature Type

protein coding gene
IDs

MGI:1352762
NCBI Gene: 29871
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr4:120262478-120387383 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 56.52 cM, cytoband D1-D2
Mapping Data

6 experiments

SNPs within 2kb

2260 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1352762	protein coding gene	Chr4:120262347-120387397 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028708	protein coding gene	Chr4:121658037-121788903 (+)
A/J	MGP_AJ_G0028668	protein coding gene	Chr4:116868239-116995507 (+)
AKR/J	MGP_AKRJ_G0028621	protein coding gene	Chr4:119417808-119556624 (+)
BALB/cJ	MGP_BALBcJ_G0028691	protein coding gene	Chr4:117483599-117604010 (+)
C3H/HeJ	MGP_C3HHeJ_G0028406	protein coding gene	Chr4:120967827-121093589 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029132	protein coding gene	Chr4:126240430-126381640 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026409	protein coding gene	Chr4:110955915-111067783 (+)
CAST/EiJ	MGP_CASTEiJ_G0027837	protein coding gene	Chr4:118331865-118459423 (+)
CBA/J	MGP_CBAJ_G0028373	protein coding gene	Chr4:129659730-129814411 (+)
DBA/2J	MGP_DBA2J_G0028520	protein coding gene	Chr4:117456600-117575114 (+)
FVB/NJ	MGP_FVBNJ_G0028486	protein coding gene	Chr4:115976687-116104261 (+)
LP/J	MGP_LPJ_G0028620	protein coding gene	Chr4:121782424-121912096 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028514	protein coding gene	Chr4:134514696-134651986 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029169	protein coding gene	Chr4:120493086-120625131 (+)
PWK/PhJ	MGP_PWKPhJ_G0027560	protein coding gene	Chr4:114395154-114520145 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027386	protein coding gene	Chr4:116928229-117062884 (+)
WSB/EiJ	MGP_WSBEiJ_G0027917	protein coding gene	Chr4:120507203-120637493 (+)

Human Ortholog

SCMH1, Scm polycomb group protein homolog 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SCMH1, Scm polycomb group protein homolog 1
Synonyms

Scml3
Links

HGNC:19003

NCBI Gene ID: 22955

neXtProt AC: NX_Q96GD3

UniProt: Q96GD3
Chr Location

1p34.2; chr1:41027202-41242306 (-) GRCh38

MGI Vertebrate Homology

Scmh1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SCMH1
Gene Tree

Scmh1

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Phenotype Summary

25 phenotypes from 3 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
20 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

53
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

41
Radiation induced

1
Targeted

7
Genomic Mutations

4 involving Scmh1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

102 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an allele lacking the SPM domain exhibit partial penetrance of posterior vertebral transformations and male infertility with azoospermia and arrest of spermatogenesis. Mice homozygous for a knock-out allele exhibit abnormal hematopoiesis but normal fertility and skeleton.

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All GO Annotations

14
GO References

5

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

1022
Tissues

245
cDNA Data

23
Literature Summary

11

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase scmh1

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All Sequences

92
RefSeq

23
UniProt

3
CCDS

CCDS18589.1, CCDS51292.1

Ensembl

ENSMUSG00000000085 (Evidence)
NCBI Gene

29871

			Length	Strain/Species	Flank
genomic	ENSMUSG00000000085	Ensembl Gene Model \| MGI Sequence Detail	124906	C57BL/6J	± kb
transcript	ENSMUST00000106301	Ensembl \| MGI Sequence Detail	2584	Not Applicable
polypeptide	ENSMUSP00000101908	Ensembl \| MGI Sequence Detail	706	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000014518 polycomb protein SCMH1

(term hierarchy)
InterPro Domains

IPR004092 Mbt repeat

IPR050548 Polycomb group and chromatin remodeling factors

IPR033763 Polycomb group protein, RNA binding region

IPR047279 Polycomb protein SCMH1, first MBT repeat

IPR047280 Polycomb protein SCMH1, second MBT repeat

IPR047531 Sex comb on midleg-like, SAM domain

IPR021987 SLED domain

IPR038348 SLED domain superfamily

IPR001660 Sterile alpha motif domain

IPR013761 Sterile alpha motif/pointed domain superfamily

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All nucleic 26

Genomic 1

cDNA 24

Other 1

Microarray probesets 5

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MGI:2140226, MGI:2140390

Summaries

All 57

Developmental Gene Expression 11

Gene Ontology 5

Phenotypes 20
Earliest

J:59388 Tomotsune D, et al., A novel member of murine Polycomb-group proteins, Sex comb on midleg homolog protein, is highly conserved, and interacts with RAE28/mph1 in vitro. Differentiation. 1999 Dec;65(4):229-39
Latest

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

TSS for Scmh1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38784	Chr4:120262370-120262418 (+)	-84 bp
Tssr38785	Chr4:120262456-120262484 (+)	-8 bp
Tssr38786	Chr4:120262485-120262601 (+)	65 bp
Tssr38787	Chr4:120290049-120290055 (+)	27,574 bp
Tssr38788	Chr4:120307198-120307203 (+)	44,723 bp
Tssr38789	Chr4:120307606-120307609 (+)	45,130 bp
Tssr38790	Chr4:120340495-120340500 (+)	78,020 bp
Tssr38791	Chr4:120373971-120373985 (+)	111,500 bp
Tssr38792	Chr4:120374691-120374697 (+)	112,216 bp
Tssr38793	Chr4:120374784-120374812 (+)	112,320 bp
Tssr38794	Chr4:120374813-120374835 (+)	112,346 bp
Tssr38795	Chr4:120374837-120374856 (+)	112,369 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