Ccdc154 MGI Mouse Gene Detail - MGI:2685163 - coiled-coil domain containing 154

Symbol

Ccdc154
Name

coiled-coil domain containing 154
Synonyms

LOC207209, ntl

Feature Type

protein coding gene
IDs

MGI:2685163
NCBI Gene: 207209
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr17:25381435-25390887 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.53 cM
Mapping Data

1 experiment

SNPs within 2kb

268 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685163	protein coding gene	Chr17:25381142-25390887 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023341	protein coding gene	Chr17:24204784-24215488 (+)
A/J	MGP_AJ_G0023300	protein coding gene	Chr17:23530512-23539908 (+)
AKR/J	MGP_AKRJ_G0023266	protein coding gene	Chr17:23621371-23630796 (+)
BALB/cJ	MGP_BALBcJ_G0023305	protein coding gene	Chr17:23727083-23736428 (+)
C3H/HeJ	MGP_C3HHeJ_G0023065	protein coding gene	Chr17:23997899-24007282 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023748	protein coding gene	Chr17:25269151-25278603 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021223	protein coding gene	Chr17:20991092-21000549 (+)
CAST/EiJ	MGP_CASTEiJ_G0022567	protein coding gene	Chr17:23844734-23854138 (+)
CBA/J	MGP_CBAJ_G0023040	protein coding gene	Chr17:26126442-26137998 (+)
DBA/2J	MGP_DBA2J_G0023170	protein coding gene	Chr17:23118796-23128192 (+)
FVB/NJ	MGP_FVBNJ_G0023140	protein coding gene	Chr17:22840365-22850595 (+)
LP/J	MGP_LPJ_G0023247	protein coding gene	Chr17:24498293-24507739 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023159	protein coding gene	Chr17:25790201-25799594 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023787	protein coding gene	Chr17:23903960-23913356 (+)
PWK/PhJ	MGP_PWKPhJ_G0022316	protein coding gene	Chr17:21880399-21889853 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022134	protein coding gene	Chr17:21977223-21986712 (+)
WSB/EiJ	MGP_WSBEiJ_G0022630	protein coding gene	Chr17:23975210-23984604 (+)

Human Ortholog

CCDC154, coiled-coil domain containing 154

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CCDC154, coiled-coil domain containing 154
Synonyms

C16orf29
Links

HGNC:34454

NCBI Gene ID: 645811

neXtProt AC: NX_A6NI56

UniProt: A6NI56
Chr Location

16p13.3; chr16:1434383-1444556 (-) GRCh38

MGI Vertebrate Homology

Ccdc154 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: CCDC154
Gene Tree

Ccdc154

Diseases

1 with Ccdc154 mouse models

Human Disease

Mouse Models

autosomal recessive osteopetrosis 1

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

14 phenotypes from 1 allele in 1 genetic background
7 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

1
Radiation induced

2
Spontaneous

1
Genomic Mutations

2 involving Ccdc154
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet.

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All GO Annotations

8
GO References

4

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	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

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

51
RefSeq

16
UniProt

4
CCDS

CCDS50032.2

Ensembl

ENSMUSG00000059562 (Evidence)
NCBI Gene

207209

			Length	Strain/Species	Flank
genomic	ENSMUSG00000059562	Ensembl Gene Model \| MGI Sequence Detail	9453	C57BL/6J	± kb
transcript	ENSMUST00000182621	Ensembl \| MGI Sequence Detail	2402	Not Applicable
polypeptide	ENSMUSP00000138090	Ensembl \| MGI Sequence Detail	664	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000030766 coiled-coil domain-containing protein 154

(term hierarchy)
InterPro Domains

IPR029512 Coiled-coil domain-containing protein 154

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All nucleic 3

cDNA 3

Microarray probesets 1

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MGI:5702427

Summaries

All 24

Diseases 1

Gene Ontology 4

Phenotypes 7
Earliest

J:86784 Bergstrom DE, et al., Overlapping deletions spanning the proximal two-thirds of the mouse t complex. Mamm Genome. 2003 Dec;14(12):817-29
Latest

J:314987 Xu K, et al., CCDC154 Mutant Caused Abnormal Remodeling of the Otic Capsule and Hearing Loss in Mice. Front Cell Dev Biol. 2021;9:637011

TSS for Ccdc154:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143141	Chr17:25381415-25381430 (+)	-12 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 12/10/2024 MGI 6.24