Cfap251 MGI Mouse Gene Detail - MGI:1918495 - cilia and flagella associated protein 251

Symbol

Cfap251
Name

cilia and flagella associated protein 251
Synonyms

4930415N18Rik, 4933428F06Rik, Wdr66

Feature Type

protein coding gene
IDs

MGI:1918495
NCBI Gene: 269701
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr5:123390196-123465547 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 62.86 cM, cytoband F
Mapping Data

2 experiments

SNPs within 2kb

2106 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918495	protein coding gene	Chr5:123390165-123465547 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030068	protein coding gene	Chr5:126969787-127057701 (+)
A/J	MGP_AJ_G0030033	protein coding gene	Chr5:121708981-121787125 (+)
AKR/J	MGP_AKRJ_G0029969	protein coding gene	Chr5:125634151-125716801 (+)
BALB/cJ	MGP_BALBcJ_G0030044	protein coding gene	Chr5:123035777-123112418 (+)
C3H/HeJ	MGP_C3HHeJ_G0029761	protein coding gene	Chr5:126248360-126326466 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030497	protein coding gene	Chr5:131861835-131964401 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027723	protein coding gene	Chr5:116248388-116325255 (+)
CAST/EiJ	MGP_CASTEiJ_G0029170	protein coding gene	Chr5:125339392-125418569 (+)
CBA/J	MGP_CBAJ_G0029731	protein coding gene	Chr5:137056186-137147983 (+)
DBA/2J	MGP_DBA2J_G0029881	protein coding gene	Chr5:121728549-121804620 (+)
FVB/NJ	MGP_FVBNJ_G0029837	protein coding gene	Chr5:120744082-120829594 (+)
LP/J	MGP_LPJ_G0029970	protein coding gene	Chr5:127508927-127586728 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029868	protein coding gene	Chr5:140696641-140795796 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030538	protein coding gene	Chr5:125217575-125294587 (+)
PWK/PhJ	MGP_PWKPhJ_G0028884	protein coding gene	Chr5:120524725-120602477 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028721	protein coding gene	Chr5:122874372-122960929 (+)
WSB/EiJ	MGP_WSBEiJ_G0029245	protein coding gene	Chr5:125867862-125946659 (+)

Human Ortholog

CFAP251, cilia and flagella associated protein 251

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CFAP251, cilia and flagella associated protein 251
Synonyms

CaM-IP4, SPGF33, WDR66
Links

HGNC:28506

NCBI Gene ID: 144406

neXtProt AC: NX_Q8TBY9

UniProt: Q8TBY9
Chr Location

12q24.31; chr12:121918592-122003927 (+) GRCh38

MGI Vertebrate Homology

Cfap251 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CFAP251
Gene Tree

Cfap251

Diseases

1 with human CFAP251 associations

				Human Disease	Mouse Models
				spermatogenic failure 33 IDs spermatogenic failure 33 DOID:0111915 OMIM:618152

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

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Phenotype Summary

8 phenotype references

All Mutations and Alleles

10
Chemically induced (other)

1
Gene trapped

6
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Cfap251
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

72 strains or lines available

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All GO Annotations

7
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

735
Tissues

13
cDNA Data

4
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cfap251

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All Sequences

45
RefSeq

4
UniProt

4
CCDS

CCDS89985.1

Ensembl

ENSMUSG00000029442 (Evidence)
NCBI Gene

269701

			Length	Strain/Species	Flank
genomic	269701	NCBI Gene Model \| MGI Sequence Detail	75352	C57BL/6J	± kb
transcript	NM_001370840	RefSeq \| MGI Sequence Detail	4771	C57BL/6
polypeptide	E9Q743	UniProt \| EBI \| MGI Sequence Detail	1299	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000029865 cilia- and flagella-associated protein 251

(term hierarchy)
InterPro Domains

IPR011992 EF-hand domain pair

IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily

IPR011044 Quinoprotein amine dehydrogenase, beta chain-like

IPR001680 WD40 repeat

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

IPR050630 WD repeat Echinoderm Microtubule-associated Protein-like
GlyGen

E9Q743 4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (3 sites)

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All nucleic 7

Genomic 1

cDNA 6

Microarray probesets 5

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MGI:1924119, MGI:7414083

Summaries

All 32

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 8
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:93300 Blackshaw S, et al., Genomic analysis of mouse retinal development. PLoS Biol. 2004 Oct;2(9):E247

TSS for Cfap251:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr48777	Chr5:123390150-123390199 (+)	-21 bp
Tssr48778	Chr5:123391729-123391755 (+)	1,546 bp
Tssr48779	Chr5:123411811-123411814 (+)	21,617 bp
Tssr48780	Chr5:123440465-123440474 (+)	50,274 bp
Tssr48781	Chr5:123440476-123440489 (+)	50,287 bp
Tssr48782	Chr5:123440560-123440571 (+)	50,370 bp
Tssr48783	Chr5:123448562-123448585 (+)	58,378 bp
Tssr48784	Chr5:123448596-123448607 (+)	58,406 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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