Ift46 MGI Mouse Gene Detail - MGI:1923818 - intraflagellar transport 46

Symbol

Ift46
Name

intraflagellar transport 46
Synonyms

1500035H01Rik, IFT46

Feature Type

protein coding gene
IDs

MGI:1923818
NCBI Gene: 76568
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr9:44683074-44704011 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 24.84 cM
Mapping Data

3 experiments

SNPs within 2kb

550 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923818	protein coding gene	Chr9:44679205-44704744 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034718	protein coding gene	Chr9:43302524-43322205 (+)
A/J	MGP_AJ_G0034699	protein coding gene	Chr9:42083808-42103558 (+)
AKR/J	MGP_AKRJ_G0034626	protein coding gene	Chr9:42945895-42977716 (+)
BALB/cJ	MGP_BALBcJ_G0034690	protein coding gene	Chr9:41823899-41843912 (+)
C3H/HeJ	MGP_C3HHeJ_G0034401	protein coding gene	Chr9:43407526-43427809 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035211	protein coding gene	Chr9:44572035-44600510 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032126	protein coding gene	Chr9:41644964-41664750 (+)
CAST/EiJ	MGP_CASTEiJ_G0033723	protein coding gene	Chr9:43269410-43289037 (+)
CBA/J	MGP_CBAJ_G0034373	protein coding gene	Chr9:46200645-46230531 (+)
DBA/2J	MGP_DBA2J_G0034532	protein coding gene	Chr9:41981558-42001230 (+)
FVB/NJ	MGP_FVBNJ_G0034473	protein coding gene	Chr9:41237990-41262480 (+)
LP/J	MGP_LPJ_G0034613	protein coding gene	Chr9:43600923-43622198 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034517	protein coding gene	Chr9:48041803-48073111 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035232	protein coding gene	Chr9:42879215-42899885 (+)
PWK/PhJ	MGP_PWKPhJ_G0033428	protein coding gene	Chr9:41867116-41887005 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033264	protein coding gene	Chr9:43174617-43195309 (+)
WSB/EiJ	MGP_WSBEiJ_G0033836	protein coding gene	Chr9:42894976-42921441 (+)

Human Ortholog

IFT46, intraflagellar transport 46

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

IFT46, intraflagellar transport 46
Synonyms

C11orf2, C11orf60, CFAP32, FAP32
Links

HGNC:26146

NCBI Gene ID: 56912

neXtProt AC: NX_Q9NQC8

UniProt: Q9NQC8
Chr Location

11q23.3; chr11:118544528-118576898 (-) GRCh38

MGI Vertebrate Homology

Ift46 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: IFT46
Gene Tree

Ift46

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Phenotype Summary

15 phenotypes from 1 allele in 1 genetic background
9 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

21
Endonuclease-mediated

1
Gene trapped

16
Targeted

4
Find Mice (IMSR)

85 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are embryonic lethal at E10.5 and exhibit embryonic growth retardation, neural tube defects, cardiac edema, and randomized heart looping due to absence of cilia at the embryonic node.

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All GO Annotations

32
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

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

743
Tissues

29
cDNA Data

105
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ift46

ZFIN ift46

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All Sequences

75
RefSeq

9
UniProt

7
CCDS

CCDS23119.1

Ensembl

ENSMUSG00000002031 (Evidence)
NCBI Gene

76568

			Length	Strain/Species	Flank
genomic	76568	NCBI Gene Model \| MGI Sequence Detail	20938	C57BL/6J	± kb
transcript	NM_023831	RefSeq \| MGI Sequence Detail	3337	C57BL/6
polypeptide	Q9DB07	UniProt \| EBI \| MGI Sequence Detail	301	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000031236 intraflagellar transport protein 46 homolog

(term hierarchy)
InterPro Domains

IPR022088 Intraflagellar transport complex B protein 46

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All nucleic 110

Genomic 1

cDNA 105

Primer pair 3

Other 1

Microarray probesets 4

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MGI:2142918, MGI:2143111, MGI:2143447

Summaries

All 45

Developmental Gene Expression 4

Gene Ontology 13

Phenotypes 9
Earliest

J:74598 O'Brien KP, et al., Characterization of five novel human genes in the 11q13-q22 region. Biochem Biophys Res Commun. 2000 Jun 24;273(1):90-4
Latest

J:346597 Seo S, et al., Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity. Invest Ophthalmol Vis Sci. 2024 Mar 5;65(3):30

TSS for Ift46:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr84697	Chr9:44684206-44684246 (+)	1,152 bp
Tssr84698	Chr9:44684248-44684261 (+)	1,181 bp
Tssr84699	Chr9:44684272-44684277 (+)	1,201 bp
Tssr84700	Chr9:44684285-44684312 (+)	1,225 bp
Tssr84701	Chr9:44684324-44684364 (+)	1,270 bp
Tssr84702	Chr9:44684488-44684504 (+)	1,422 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