Efcc1 MGI Mouse Gene Detail - MGI:3611451 - EF hand and coiled-coil domain containing 1

Symbol

Efcc1
Name

EF hand and coiled-coil domain containing 1
Synonyms

AB041550, Ccdc48

Feature Type

protein coding gene
IDs

MGI:3611451
NCBI Gene: 58229
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr6:87707851-87732890 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 39.02 cM, cytoband D2
Mapping Data

2 experiments

SNPs within 2kb

824 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3611451	protein coding gene	Chr6:87707577-87739410 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030996	protein coding gene	Chr6:89091968-89117823 (+)
A/J	MGP_AJ_G0030962	protein coding gene	Chr6:85652235-85677467 (+)
AKR/J	MGP_AKRJ_G0030893	protein coding gene	Chr6:88130792-88157557 (+)
BALB/cJ	MGP_BALBcJ_G0030975	protein coding gene	Chr6:85649998-85677105 (+)
C3H/HeJ	MGP_C3HHeJ_G0030735	protein coding gene	Chr6:96316924-96342060 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031432	protein coding gene	Chr6:91476281-91509112 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028616	protein coding gene	Chr6:83828935-83832081 (+)
CAST/EiJ	MGP_CASTEiJ_G0030084	protein coding gene	Chr6:88215945-88241049 (+)
CBA/J	MGP_CBAJ_G0030659	protein coding gene	Chr6:95021366-95049116 (+)
DBA/2J	MGP_DBA2J_G0030815	protein coding gene	Chr6:84953849-84978860 (+)
FVB/NJ	MGP_FVBNJ_G0030768	protein coding gene	Chr6:84139980-84165420 (+)
LP/J	MGP_LPJ_G0030892	protein coding gene	Chr6:89110892-89137427 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030801	protein coding gene	Chr6:99157842-99182882 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031459	protein coding gene	Chr6:87979748-88010844 (+)
PWK/PhJ	MGP_PWKPhJ_G0029799	protein coding gene	Chr6:83922249-83948257 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029627	protein coding gene	Chr6:86799441-86827467 (+)
WSB/EiJ	MGP_WSBEiJ_G0030165	protein coding gene	Chr6:88437827-88463225 (+)

Human Ortholog

EFCC1, EF-hand and coiled-coil domain containing 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EFCC1, EF-hand and coiled-coil domain containing 1
Synonyms

C3orf73, CCDC48
Links

HGNC:25692

NCBI Gene ID: 79825

neXtProt AC: NX_Q9HA90

UniProt: Q9HA90
Chr Location

3q21.3; chr3:129001304-129040742 (+) GRCh38

MGI Vertebrate Homology

Efcc1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EFCC1
Gene Tree

Efcc1

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
8 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

4
Endonuclease-mediated

3
Spontaneous

1
Genomic Mutations

1 involving Efcc1
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

17 strains or lines available

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All GO Annotations

1
GO References

1

Molecular Function

Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

Cellular Component

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

4

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase efcc1

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All Sequences

45
RefSeq

10
UniProt

3
CCDS

CCDS20326.1, CCDS51840.1

Ensembl

ENSMUSG00000068263 (Evidence)
NCBI Gene

58229

			Length	Strain/Species	Flank
genomic	ENSMUSG00000068263	Ensembl Gene Model \| MGI Sequence Detail	25040	C57BL/6J	± kb
transcript	ENSMUST00000032132	Ensembl \| MGI Sequence Detail	2729	Not Applicable
polypeptide	ENSMUSP00000032132	Ensembl \| MGI Sequence Detail	559	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000031755 EF-hand and coiled-coil domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR031601 Coiled-coil domain-containing protein 48

IPR002048 EF-hand domain

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All nucleic 6

Genomic 2

cDNA 4

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MGI:1931020

Summaries

All 24

Gene Ontology 1

Phenotypes 8
Earliest

J:87486 Akeson EC, Chromosomal inversion discovered in C3H/HeJ mice. JAX Notes. 2003;491:15
Latest

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

TSS for Efcc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57548	Chr6:87709539-87709576 (+)	1,707 bp
Tssr57549	Chr6:87719308-87719321 (+)	11,464 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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