Efcab9 MGI Mouse Gene Detail - MGI:1916556 - EF-hand calcium binding domain 9

Symbol

Efcab9
Name

EF-hand calcium binding domain 9
Synonyms

1700007I06Rik, 4930403C08Rik

Feature Type

protein coding gene
IDs

MGI:1916556
NCBI Gene: 69306
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr11:32472751-32482081 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 18.97 cM, cytoband A5
Mapping Data

2 experiments

SNPs within 2kb

233 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916556	protein coding gene	Chr11:32472733-32483144 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018136	protein coding gene	Chr11:30758080-30772241 (-)
A/J	MGP_AJ_G0018109	protein coding gene	Chr11:29583622-29592885 (-)
AKR/J	MGP_AKRJ_G0018073	protein coding gene	Chr11:30521082-30530459 (-)
BALB/cJ	MGP_BALBcJ_G0018078	protein coding gene	Chr11:29775749-29785130 (-)
C3H/HeJ	MGP_C3HHeJ_G0017891	protein coding gene	Chr11:30459900-30470672 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018532	protein coding gene	Chr11:31763334-31774109 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016187	protein coding gene	Chr11:28107829-28117403 (-)
CAST/EiJ	MGP_CASTEiJ_G0017455	protein coding gene	Chr11:30497263-30514676 (-)
CBA/J	MGP_CBAJ_G0017864	protein coding gene	Chr11:33272781-33284609 (-)
DBA/2J	MGP_DBA2J_G0017974	protein coding gene	Chr11:29376805-29386862 (-)
FVB/NJ	MGP_FVBNJ_G0017968	protein coding gene	Chr11:29202424-29211752 (-)
LP/J	MGP_LPJ_G0018046	protein coding gene	Chr11:31019893-31031027 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017992	protein coding gene	Chr11:34246614-34257628 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018571	protein coding gene	Chr11:30650735-30661782 (-)
PWK/PhJ	MGP_PWKPhJ_G0017236	protein coding gene	Chr11:29533559-29544026 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017028	protein coding gene	Chr11:30348923-30360059 (-)
WSB/EiJ	MGP_WSBEiJ_G0017504	protein coding gene	Chr11:30283418-30296746 (-)

Human Ortholog

EFCAB9, EF-hand calcium binding domain 9

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EFCAB9, EF-hand calcium binding domain 9
Links

HGNC:34530

NCBI Gene ID: 285588

neXtProt AC: NX_A8MZ26

UniProt: A8MZ26
Chr Location

5q35.1; chr5:172194172-172203454 (+) GRCh38

MGI Vertebrate Homology

Efcab9 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: EFCAB9
Gene Tree

Efcab9

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Phenotype Summary

5 phenotypes from 2 alleles in 1 genetic background
2 phenotypes from multigenic genotypes
11 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

6
Chemically induced (other)

1
Endonuclease-mediated

4
Targeted

1
Genomic Mutations

1 involving Efcab9
Incidental Mutations

APF
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice for a null allele exhibit male subfertility, impaired sperm motility and sperm flagellum abnormalities.

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All GO Annotations

17
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

10

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

38
RefSeq

6
UniProt

2
CCDS

CCDS24528.1

Ensembl

ENSMUSG00000044056 (Evidence)
NCBI Gene

69306

			Length	Strain/Species	Flank
genomic	ENSMUSG00000044056	Ensembl Gene Model \| MGI Sequence Detail	9331	C57BL/6J	± kb
transcript	ENSMUST00000054327	Ensembl \| MGI Sequence Detail	754	Not Applicable
polypeptide	ENSMUSP00000060205	Ensembl \| MGI Sequence Detail	216	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000031194 EF-hand calcium-binding domain-containing protein 9

(term hierarchy)
PDB

7EEB
InterPro Domains

IPR042798 EF-hand calcium-binding domain-containing protein 9

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

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All nucleic 10

cDNA 10

Microarray probesets 3

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MGI:1921194

Summaries

All 34

Gene Ontology 5

Phenotypes 11
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

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

TSS for Efcab9:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr107311	Chr11:32477551-32477579 (-)	4,516 bp
Tssr107310	Chr11:32477541-32477550 (-)	4,535 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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