Scnm1 MGI Mouse Gene Detail - MGI:1341284 - sodium channel modifier 1

Symbol

Scnm1
Name

sodium channel modifier 1
Synonyms

3110001I17Rik, Scnm1-ps

Feature Type

protein coding gene
IDs

MGI:1341284
NCBI Gene: 69269
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr3:95037030-95041285 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 40.74 cM, cytoband F2
Mapping Data

7 experiments

SNPs within 2kb

165 from dbSNP Build 142
Strain Annotations

18

Strain-Specific Marker

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1341284	protein coding gene	Chr3:95036847-95041322 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027569	protein coding gene	Chr3:95823994-95828697 (-)
A/J	MGP_AJ_G0027528	protein coding gene	Chr3:92868821-92872905 (-)
AKR/J	MGP_AKRJ_G0027495	protein coding gene	Chr3:95011270-95015354 (-)
BALB/cJ	MGP_BALBcJ_G0027540	protein coding gene	Chr3:92638045-92642129 (-)
C3H/HeJ	MGP_C3HHeJ_G0027273	protein coding gene	Chr3:95291549-95295633 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027988	protein coding gene	Chr3:99389585-99394005 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025328	protein coding gene	Chr3:89230043-89234229 (-)
CAST/EiJ	MGP_CASTEiJ_G0026723	protein coding gene	Chr3:94577845-94581923 (-)
CBA/J	MGP_CBAJ_G0027250	protein coding gene	Chr3:102995846-102999930 (-)
DBA/2J	MGP_DBA2J_G0027389	protein coding gene	Chr3:92161451-92165535 (-)
FVB/NJ	MGP_FVBNJ_G0027360	protein coding gene	Chr3:90231066-90235150 (-)
LP/J	MGP_LPJ_G0027498	protein coding gene	Chr3:97115011-97121717 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027387	protein coding gene	Chr3:109119978-109126416 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028042	protein coding gene	Chr3:94667004-94671189 (-)
PWK/PhJ	MGP_PWKPhJ_G0026451	protein coding gene	Chr3:92037701-92042173 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026272	protein coding gene	Chr3:92962064-92966324 (-)
WSB/EiJ	MGP_WSBEiJ_G0026805	protein coding gene	Chr3:95050907-95054991 (-)

Human Ortholog

SCNM1, sodium channel modifier 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SCNM1, sodium channel modifier 1
Synonyms

OFD19
Links

HGNC:23136

NCBI Gene ID: 79005

neXtProt AC: NX_Q9BWG6

UniProt: Q9BWG6
Chr Location

1q21.3; chr1:151156664-151170296 (+) GRCh38

MGI Vertebrate Homology

Scnm1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SCNM1
Gene Tree

Scnm1

Diseases

1 with human SCNM1 associations

				Human Disease	Mouse Models
				orofaciodigital syndrome XIX IDs orofaciodigital syndrome XIX DOID:0060960 OMIM:620107

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

References

1 with disease annotations

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Phenotype Summary

5 phenotypes from 2 alleles in 4 genetic backgrounds
18 phenotypes from multigenic genotypes
16 phenotype references

All Mutations and Alleles

20
Chemically induced (ENU)

2
Chemically induced (other)

1
Gene trapped

11
Radiation induced

1
Spontaneous

2
Targeted

3
Genomic Mutations

2 involving Scnm1
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

17 strains or lines available

The Scnm1 locus influences the severity of the Scn8a^med-J phenotype. Mice carrying the recesive susceptibility allele of the modifier are paralyzed and do not survive beyond 1 month. Mice carryimg the resistant allele display progressive dystonia with ataxia and live more than 1.5 years.

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All GO Annotations

9
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

706
cDNA Data

73

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase scnm1

ZFIN scnm1

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All Sequences

43
RefSeq

3
UniProt

2
CCDS

CCDS50986.1, CCDS50987.1

Ensembl

ENSMUSG00000092607 (Evidence)
NCBI Gene

69269

			Length	Strain/Species	Flank
genomic	69269	NCBI Gene Model \| MGI Sequence Detail	4256	C57BL/6J	± kb
transcript	NM_001409852	RefSeq \| MGI Sequence Detail	834	FVB/N
polypeptide	Q8K136	UniProt \| EBI \| MGI Sequence Detail	229	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000014526 sodium channel modifier 1

(term hierarchy)
InterPro Domains

IPR033570 Sodium channel modifier 1

IPR031625 Sodium channel modifier 1, acidic C-terminal domain

IPR031622 Sodium channel modifier 1, zinc-finger
GlyGen

Q8K136 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 73

cDNA 73

Microarray probesets 3

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MGI:1916519

Summaries

All 38

Diseases 1

Gene Ontology 5

Phenotypes 16
Earliest

J:53340 Sprunger LK, et al., Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Hum Mol Genet. 1999 Mar;8(3):471-9
Latest

J:302829 Lu J, et al., Mouse models for human hyperuricaemia: a critical review. Nat Rev Rheumatol. 2019 Jul;15(7):413-426

TSS for Scnm1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr34421	Chr3:95041300-95041328 (-)	-29 bp
Tssr34420	Chr3:95041247-95041299 (-)	12 bp
Tssr34419	Chr3:95041209-95041224 (-)	68 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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