Cfap43 MGI Mouse Gene Detail - MGI:1289258 - cilia and flagella associated protein 43

Symbol

Cfap43
Name

cilia and flagella associated protein 43
Synonyms

4632415N18Rik, 4930428C11Rik, 4930463G05Rik, D19Ertd652e, Wdr96

Feature Type

protein coding gene
IDs

MGI:1289258
NCBI Gene: 100048534
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr19:47723706-47825893 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 40.41 cM, cytoband D2
Mapping Data

4 experiments

SNPs within 2kb

2796 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1289258	protein coding gene	Chr19:47723706-47907726 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025234	protein coding gene	Chr19:47572703-47782781 (-)
A/J	MGP_AJ_G0025210	protein coding gene	Chr19:45182071-45381959 (-)
AKR/J	MGP_AKRJ_G0025179	protein coding gene	Chr19:46662664-46848970 (-)
BALB/cJ	MGP_BALBcJ_G0025205	protein coding gene	Chr19:45244096-45437040 (-)
C3H/HeJ	MGP_C3HHeJ_G0024965	protein coding gene	Chr19:46837253-47025370 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025648	protein coding gene	Chr19:48696438-48903586 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023061	protein coding gene	Chr19:44412733-44583411 (-)
CAST/EiJ	MGP_CASTEiJ_G0024430	protein coding gene	Chr19:46667948-46844721 (-)
CBA/J	MGP_CBAJ_G0024945	protein coding gene	Chr19:51154016-51380372 (-)
DBA/2J	MGP_DBA2J_G0025077	protein coding gene	Chr19:45002825-45197969 (-)
FVB/NJ	MGP_FVBNJ_G0025038	protein coding gene	Chr19:44791252-44969268 (-)
LP/J	MGP_LPJ_G0025163	protein coding gene	Chr19:47452857-47665732 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025069	protein coding gene	Chr19:50405970-50605247 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025706	protein coding gene	Chr19:46771087-46974578 (-)
PWK/PhJ	MGP_PWKPhJ_G0024179	protein coding gene	Chr19:44967730-45152676 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023982	protein coding gene	Chr19:45440804-45629683 (-)
WSB/EiJ	MGP_WSBEiJ_G0024500	protein coding gene	Chr19:46936296-47125133 (-)

Human Ortholog

CFAP43, cilia and flagella associated protein 43

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CFAP43, cilia and flagella associated protein 43
Synonyms

bA373N18.2, C10orf79, HYDNP1, SPGF19, WDR96
Links

HGNC:26684

NCBI Gene ID: 80217

neXtProt AC: NX_Q8NDM7

UniProt: Q8NDM7
Chr Location

10q25.1; chr10:104129888-104232364 (-) GRCh38

MGI Vertebrate Homology

Cfap43 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CFAP43
Gene Tree

Cfap43

Diseases

2 with Cfap43 mouse models; 2 with human CFAP43 associations

Human Disease

Mouse Models

normal pressure hydrocephalus

IDs

View 1 model

spermatogenic failure 19

IDs

View 2 models

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

Mutations/Alleles

3 with disease annotations

References

2 with disease annotations

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Phenotype Summary

25 phenotypes from 4 alleles in 3 genetic backgrounds
2 images
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

7
Endonuclease-mediated

6
Gene trapped

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

69 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects.

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All GO Annotations

30
GO References

11

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

738
Tissues

2
cDNA Data

11
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cfap43

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All Sequences

61
RefSeq

16
UniProt

6
CCDS

CCDS57146.1

Ensembl

ENSMUSG00000044948 (Evidence)
NCBI Gene

100048534

			Length	Strain/Species	Flank
genomic	100048534	NCBI Gene Model \| MGI Sequence Detail	102188	C57BL/6J	± kb
transcript	NM_027559	RefSeq \| MGI Sequence Detail	5947	ZRU/MplStud
polypeptide	E9Q7R9	UniProt \| EBI \| MGI Sequence Detail	1682	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000032709 cilia- and flagella-associated protein 43

(term hierarchy)
InterPro Domains

IPR011044 Quinoprotein amine dehydrogenase, beta chain-like

IPR001680 WD40 repeat

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

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All nucleic 12

cDNA 11

Primer pair 1

Microarray probesets 9

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MGI:1918056, MGI:1918886, MGI:1922174, MGI:2147530

Summaries

All 36

Developmental Gene Expression 2

Diseases 2

Gene Ontology 11

Phenotypes 8
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:338634 Martinez G, et al., Oligogenic heterozygous inheritance of sperm abnormalities in mouse. Elife. 2022 Apr 22;11:e75373

TSS for Cfap43:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr159759	Chr19:47825817-47825863 (-)	53 bp
Tssr159758	Chr19:47825730-47825744 (-)	156 bp
Tssr159757	Chr19:47825701-47825714 (-)	185 bp
Tssr159756	Chr19:47824378-47824421 (-)	1,493 bp
Tssr159755	Chr19:47775546-47775568 (-)	50,336 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 11/12/2024 MGI 6.24