Cep78 MGI Mouse Gene Detail - MGI:1924386

Symbol

Cep78
Name

centrosomal protein 78
Synonyms

5730599I05Rik

Feature Type

protein coding gene
IDs

MGI:1924386
NCBI Gene: 208518
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr19:15933137-15962353 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 10.89 cM
Mapping Data

2 experiments

SNPs within 2kb

173 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924386	protein coding gene	Chr19:15933134-15962396 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024957	protein coding gene	Chr19:13657409-13686444 (-)
A/J	MGP_AJ_G0024934	protein coding gene	Chr19:12864821-12895154 (-)
AKR/J	MGP_AKRJ_G0024904	protein coding gene	Chr19:13405869-13437111 (-)
BALB/cJ	MGP_BALBcJ_G0024933	protein coding gene	Chr19:12908409-12935889 (-)
C3H/HeJ	MGP_C3HHeJ_G0024691	protein coding gene	Chr19:13349810-13377660 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025375	protein coding gene	Chr19:14220306-14249044 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022794	protein coding gene	Chr19:13330262-13359167 (-)
CAST/EiJ	MGP_CASTEiJ_G0024159	protein coding gene	Chr19:12918756-12946835 (-)
CBA/J	MGP_CBAJ_G0024669	protein coding gene	Chr19:14634579-14671829 (-)
DBA/2J	MGP_DBA2J_G0024801	protein coding gene	Chr19:12912731-12941517 (-)
FVB/NJ	MGP_FVBNJ_G0024762	protein coding gene	Chr19:12841772-12870087 (-)
LP/J	MGP_LPJ_G0024885	protein coding gene	Chr19:13656314-13688242 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024789	protein coding gene	Chr19:14598628-14627800 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025430	protein coding gene	Chr19:13321192-13348697 (-)
PWK/PhJ	MGP_PWKPhJ_G0023908	protein coding gene	Chr19:12447248-12474994 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023713	protein coding gene	Chr19:12612791-12646815 (-)
WSB/EiJ	MGP_WSBEiJ_G0024227	protein coding gene	Chr19:13338667-13367087 (-)

Human Ortholog

CEP78, centrosomal protein 78

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CEP78, centrosomal protein 78
Synonyms

C9orf81, CRDHL, IP63
Links

HGNC:25740

NCBI Gene ID: 84131

neXtProt AC: NX_Q5JTW2

UniProt: Q5JTW2
Chr Location

9q21.2; chr9:78236062-78279690 (+) GRCh38

MGI Vertebrate Homology

Cep78 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CEP78
Gene Tree

Cep78

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Phenotype Summary

41 phenotypes from 3 alleles in 3 genetic backgrounds
10 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

10
Endonuclease-mediated

5
Gene trapped

3
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for null mutations exhibit male infertility associated with oligoasthenoteratozoospermia and impairments in retina photoreceptors and/or outer hair cells of the cochlea.

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All GO Annotations

8
GO References

5

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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	non-membrane-bounded 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

713
Tissues

3
cDNA Data

47
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cep78

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All Sequences

52
RefSeq

16
UniProt

3
CCDS

CCDS29682.1

Ensembl

ENSMUSG00000041491 (Evidence)
NCBI Gene

208518

			Length	Strain/Species	Flank
genomic	ENSMUSG00000041491	Ensembl Gene Model \| MGI Sequence Detail	29217	C57BL/6J	± kb
transcript	ENSMUST00000047704	Ensembl \| MGI Sequence Detail	2548	Not Applicable
polypeptide	ENSMUSP00000037596	Ensembl \| MGI Sequence Detail	790	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000005358 centrosomal protein of 78 kDa

(term hierarchy)
InterPro Domains

IPR026212 Centrosomal protein of 78kDa

IPR001611 Leucine-rich repeat

IPR032675 Leucine-rich repeat domain superfamily

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All nucleic 49

cDNA 48

Primer pair 1

Microarray probesets 2

Summaries

All 34

Developmental Gene Expression 1

Gene Ontology 5

Phenotypes 10
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:336106 Zhu T, et al., Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual. Elife. 2023 Feb 9;12

TSS for Cep78:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr158476	Chr19:15962334-15962382 (-)	-5 bp
Tssr158475	Chr19:15962309-15962326 (-)	35 bp
Tssr158474	Chr19:15939886-15939898 (-)	22,461 bp
Tssr158473	Chr19:15936565-15936568 (-)	25,786 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23