Cachd1 MGI Mouse Gene Detail - MGI:2444177

Symbol

Cachd1
Name

cache domain containing 1
Synonyms

1190007F10Rik, B430218L07Rik, Vwcd1

Feature Type

protein coding gene
IDs

MGI:2444177
NCBI Gene: 320508
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr4:100633870-100861741 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 45.76 cM
Mapping Data

2 experiments

SNPs within 2kb

6584 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444177	protein coding gene	Chr4:100633870-100886417 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028488	protein coding gene	Chr4:101048302-101313337 (+)
A/J	MGP_AJ_G0028451	protein coding gene	Chr4:97526260-97781361 (+)
AKR/J	MGP_AKRJ_G0028398	protein coding gene	Chr4:99877017-100137028 (+)
BALB/cJ	MGP_BALBcJ_G0028469	protein coding gene	Chr4:97742350-97987412 (+)
C3H/HeJ	MGP_C3HHeJ_G0028182	protein coding gene	Chr4:100689794-100939982 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028908	protein coding gene	Chr4:104882739-105150110 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026200	protein coding gene	Chr4:92829291-93070132 (+)
CAST/EiJ	MGP_CASTEiJ_G0027622	protein coding gene	Chr4:98479614-98726966 (+)
CBA/J	MGP_CBAJ_G0028151	protein coding gene	Chr4:108170789-108457715 (+)
DBA/2J	MGP_DBA2J_G0028301	protein coding gene	Chr4:97227421-97478625 (+)
FVB/NJ	MGP_FVBNJ_G0028268	protein coding gene	Chr4:96062728-96319924 (+)
LP/J	MGP_LPJ_G0028401	protein coding gene	Chr4:101346682-101618672 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028296	protein coding gene	Chr4:113746561-114010169 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028946	protein coding gene	Chr4:100132042-100385985 (+)
PWK/PhJ	MGP_PWKPhJ_G0027347	protein coding gene	Chr4:95404386-95650161 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027169	protein coding gene	Chr4:97590726-97857488 (+)
WSB/EiJ	MGP_WSBEiJ_G0027700	protein coding gene	Chr4:100294740-100554257 (+)

Human Ortholog

CACHD1, cache domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CACHD1, cache domain containing 1
Links

HGNC:29314

NCBI Gene ID: 57685

neXtProt AC: NX_Q5VU97

UniProt: Q5VU97
Chr Location

1p31.3; chr1:64470129-64693058 (+) GRCh38

MGI Vertebrate Homology

Cachd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CACHD1
Gene Tree

Cachd1

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Phenotype Summary

24 phenotypes from 3 alleles in 3 genetic backgrounds
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

12
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

4
Radiation induced

1
Spontaneous

1
Targeted

2
Genomic Mutations

4 involving Cachd1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

82 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Two mutations in this gene have been shown to cause developmental defects in the inner ear leading to vestibular defects and impaired hearing, and a separate null allele results in decreased grip strength and pre-wean lethality with incomplete penetrance.

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All GO Annotations

4
GO References

3

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

862
Tissues

31
cDNA Data

84
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cachd1

ZFIN cachd1

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All Sequences

40
RefSeq

2
UniProt

2
CCDS

CCDS18391.1

Ensembl

ENSMUSG00000028532 (Evidence)
NCBI Gene

320508

			Length	Strain/Species	Flank
genomic	320508	NCBI Gene Model \| MGI Sequence Detail	227872	C57BL/6J	± kb
transcript	NM_198037	RefSeq \| MGI Sequence Detail	5767	C57BL/6
polypeptide	Q6PDJ1	UniProt \| EBI \| MGI Sequence Detail	1288	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004940 VWFA and cache domain-containing protein 1

(term hierarchy)
PDB

8S7C
InterPro Domains

IPR029151 Periplasmic sensor-like domain superfamily

IPR051173 Voltage-dependent calcium channel subunit alpha-2/delta

IPR036465 von Willebrand factor A-like domain superfamily

IPR002035 von Willebrand factor, type A
GlyGen

Q6PDJ1 5 sites, 5 N-linked glycans (4 sites)

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All nucleic 84

cDNA 84

Microarray probesets 4

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MGI:1916110, MGI:2140392

Summaries

All 41

Developmental Gene Expression 4

Gene Ontology 3

Phenotypes 16
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Cachd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr37969	Chr4:100633838-100633853 (+)	-24 bp
Tssr37970	Chr4:100633861-100633889 (+)	5 bp
Tssr37971	Chr4:100633901-100633918 (+)	40 bp
Tssr1239	Chr4:100633961-100633976 (+)	99 bp
Tssr37972	Chr4:100633991-100634003 (+)	127 bp
Tssr37973	Chr4:100676483-100676504 (+)	42,624 bp
Tssr37974	Chr4:100676631-100676656 (+)	42,774 bp
Tssr1240	Chr4:100718608-100718615 (+)	84,742 bp
Tssr37975	Chr4:100768688-100768698 (+)	134,823 bp
Tssr37976	Chr4:100851803-100851830 (+)	217,947 bp
Tssr37977	Chr4:100860173-100860203 (+)	226,318 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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