Ift43 MGI Mouse Gene Detail - MGI:1923661 - intraflagellar transport 43

Symbol

Ift43
Name

intraflagellar transport 43
Synonyms

1700019E19Rik

Feature Type

protein coding gene
IDs

MGI:1923661
NCBI Gene: 76411
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr12:86129335-86209233 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 40.16 cM
Mapping Data

2 experiments

SNPs within 2kb

346 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923661	protein coding gene	Chr12:86129315-86209233 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019968	protein coding gene	Chr12:86895891-86985677 (+)
A/J	MGP_AJ_G0019925	protein coding gene	Chr12:83595032-83678317 (+)
AKR/J	MGP_AKRJ_G0019901	protein coding gene	Chr12:85850576-85935513 (+)
BALB/cJ	MGP_BALBcJ_G0019905	protein coding gene	Chr12:83933455-84016221 (+)
C3H/HeJ	MGP_C3HHeJ_G0019711	protein coding gene	Chr12:86346886-86433279 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020356	protein coding gene	Chr12:89390597-89480068 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017974	protein coding gene	Chr12:80482075-80561673 (+)
CAST/EiJ	MGP_CASTEiJ_G0019261	protein coding gene	Chr12:81324616-81410447 (+)
CBA/J	MGP_CBAJ_G0019682	protein coding gene	Chr12:92823327-92918271 (+)
DBA/2J	MGP_DBA2J_G0019796	protein coding gene	Chr12:83104400-83185746 (+)
FVB/NJ	MGP_FVBNJ_G0019783	protein coding gene	Chr12:82072762-82158819 (+)
LP/J	MGP_LPJ_G0019870	protein coding gene	Chr12:86774847-86864045 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019822	protein coding gene	Chr12:95628896-95716875 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020389	protein coding gene	Chr12:85481264-85568346 (+)
PWK/PhJ	MGP_PWKPhJ_G0019024	protein coding gene	Chr12:77628227-77709967 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018820	protein coding gene	Chr12:79958893-80042945 (+)
WSB/EiJ	MGP_WSBEiJ_G0019313	protein coding gene	Chr12:86211687-86300657 (+)

Human Ortholog

IFT43, intraflagellar transport 43

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

IFT43, intraflagellar transport 43
Synonyms

C14orf179, CED3, RP81, SRTD18
Links

HGNC:29669

NCBI Gene ID: 112752

neXtProt AC: NX_Q96FT9

UniProt: Q96FT9
Chr Location

14q24.3; chr14:75902136-76084585 (+) GRCh38

MGI Vertebrate Homology

Ift43 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: IFT43
Gene Tree

Ift43

Diseases

3 with human IFT43 associations

				Human Disease	Mouse Models
				cranioectodermal dysplasia 3 IDs cranioectodermal dysplasia 3 DOID:0080805 OMIM:614099
				retinitis pigmentosa 81 IDs retinitis pigmentosa 81 DOID:0080292 OMIM:617871
				short-rib thoracic dysplasia 18 with polydactyly IDs short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 OMIM:617866

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

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Phenotype Summary

16 phenotypes from 1 allele in 1 genetic background
12 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

12
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

4
Targeted

4
Genomic Mutations

1 involving Ift43
Incidental Mutations

APF
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

22
GO References

10

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

749
Tissues

30
cDNA Data

56
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ift43

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All Sequences

44
RefSeq

4
UniProt

2
CCDS

CCDS26064.1, CCDS88375.1

Ensembl

ENSMUSG00000007867 (Evidence)
NCBI Gene

76411

			Length	Strain/Species	Flank
genomic	76411	NCBI Gene Model \| MGI Sequence Detail	79899	C57BL/6J	± kb
transcript	NM_001199843	RefSeq \| MGI Sequence Detail	825	C57BL/6
polypeptide	Q9DA69	UniProt \| EBI \| MGI Sequence Detail	206	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000032778 intraflagellar transport protein 43 homolog

(term hierarchy)
InterPro Domains

IPR029302 Intraflagellar transport protein 43

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All nucleic 56

cDNA 56

Microarray probesets 3

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MGI:2145134

Summaries

All 43

Developmental Gene Expression 1

Gene Ontology 10

Phenotypes 12
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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Ift43:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114444	Chr12:86129329-86129377 (+)	18 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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