Sacs MGI Mouse Gene Detail - MGI:1354724

Symbol

Sacs
Name

sacsin
Synonyms

E130115J16Rik

Feature Type

protein coding gene
IDs

MGI:1354724
NCBI Gene: 50720
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr14:61375906-61478144 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 32.13 cM
Mapping Data

3 experiments

SNPs within 2kb

2701 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1354724	protein coding gene	Chr14:61375870-61478144 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021437	protein coding gene	Chr14:55504602-55606682 (+)
A/J	MGP_AJ_G0021396	protein coding gene	Chr14:54296314-54401781 (+)
AKR/J	MGP_AKRJ_G0021371	protein coding gene	Chr14:56232719-56338671 (+)
BALB/cJ	MGP_BALBcJ_G0021401	protein coding gene	Chr14:54247498-54350448 (+)
C3H/HeJ	MGP_C3HHeJ_G0021179	protein coding gene	Chr14:55874093-55980334 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021840	protein coding gene	Chr14:58218657-58325915 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019380	protein coding gene	Chr14:52308405-52408392 (+)
CAST/EiJ	MGP_CASTEiJ_G0020695	protein coding gene	Chr14:52269754-52378372 (+)
CBA/J	MGP_CBAJ_G0021146	protein coding gene	Chr14:59895140-60002193 (+)
DBA/2J	MGP_DBA2J_G0021269	protein coding gene	Chr14:53961390-54067016 (+)
FVB/NJ	MGP_FVBNJ_G0021247	protein coding gene	Chr14:53389928-53494868 (+)
LP/J	MGP_LPJ_G0021343	protein coding gene	Chr14:56546516-56648864 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021276	protein coding gene	Chr14:59209818-59316225 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021863	protein coding gene	Chr14:55386143-55490826 (+)
PWK/PhJ	MGP_PWKPhJ_G0020439	protein coding gene	Chr14:50631783-50734062 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020272	protein coding gene	Chr14:51326904-51428300 (+)
WSB/EiJ	MGP_WSBEiJ_G0020748	protein coding gene	Chr14:55699615-55810694 (+)

Human Ortholog

SACS, sacsin molecular chaperone

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SACS, sacsin molecular chaperone
Synonyms

ARSACS, DNAJC29, PPP1R138, SPAX6
Links

HGNC:10519

NCBI Gene ID: 26278

neXtProt AC: NX_Q9NZJ4

UniProt: Q9NZJ4
Chr Location

13q12.12; chr13:23288689-23433763 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: SACS
Gene Tree

Sacs

Diseases

1 with Sacs mouse models; 1 with human SACS associations

Human Disease

Mouse Models

Charlevoix-Saguenay spastic ataxia

IDs

View 2 models

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

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

27 phenotypes from 3 alleles in 3 genetic backgrounds
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

14
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

3
Targeted

4
Genomic Mutations

1 involving Sacs
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

156 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction.

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All GO Annotations

11
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

739
Tissues

6
cDNA Data

8
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sacs

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All Sequences

75
RefSeq

22
UniProt

8
CCDS

CCDS27180.1, CCDS88683.1

Ensembl

ENSMUSG00000048279 (Evidence)
NCBI Gene

50720

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048279	Ensembl Gene Model \| MGI Sequence Detail	102239	C57BL/6J	± kb
transcript	ENSMUST00000119943	Ensembl \| MGI Sequence Detail	14991	Not Applicable
polypeptide	ENSMUSP00000113377	Ensembl \| MGI Sequence Detail	4582	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000014430 sacsin

(term hierarchy)
InterPro Domains

IPR036869 Chaperone J-domain superfamily

IPR001623 DnaJ domain

IPR007842 HEPN domain

IPR036890 Histidine kinase/HSP90-like ATPase superfamily

IPR052972 Sacsin chaperone regulator

IPR029071 Ubiquitin-like domain superfamily
GlyGen

Q9JLC8 9 sites, 7 N-linked glycans (6 sites), 1 O-linked glycan (3 sites)

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All nucleic 12

Genomic 1

cDNA 9

Primer pair 2

Microarray probesets 2

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MGI:2442021

Summaries

All 43

Developmental Gene Expression 2

Diseases 2

Gene Ontology 4

Phenotypes 20
Earliest

J:60133 Engert JC, et al., ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5
Latest

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

TSS for Sacs:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr125969	Chr14:61375894-61375944 (+)	13 bp
Tssr4444	Chr14:61384952-61384981 (+)	9,061 bp
Tssr125970	Chr14:61410415-61410467 (+)	34,535 bp
Tssr125971	Chr14:61410472-61410530 (+)	34,595 bp
Tssr125972	Chr14:61410535-61410549 (+)	34,636 bp
Tssr125973	Chr14:61412330-61412353 (+)	36,436 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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