Incidental Mutation 'IGL00909:Ift43'
ID 28708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift43
Ensembl Gene ENSMUSG00000007867
Gene Name intraflagellar transport 43
Synonyms 1700019E19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00909
Quality Score
Status
Chromosome 12
Chromosomal Location 86129335-86209233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86208807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 141 (E141G)
Ref Sequence ENSEMBL: ENSMUSP00000152281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054565] [ENSMUST00000222821] [ENSMUST00000222905]
AlphaFold Q9DA69
Predicted Effect probably damaging
Transcript: ENSMUST00000054565
AA Change: E151G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061891
Gene: ENSMUSG00000007867
AA Change: E151G

DomainStartEndE-ValueType
Pfam:IFT43 53 180 4.5e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221161
Predicted Effect probably damaging
Transcript: ENSMUST00000222821
AA Change: E162G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222905
AA Change: E141G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223269
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,220,250 (GRCm39) D94V possibly damaging Het
Adamts20 T C 15: 94,277,694 (GRCm39) Y256C probably damaging Het
Ajm1 A G 2: 25,469,419 (GRCm39) L164P probably damaging Het
Ampd1 A C 3: 102,995,744 (GRCm39) D218A probably benign Het
Arcn1 T C 9: 44,662,651 (GRCm39) N332D probably damaging Het
Arpp21 T A 9: 112,005,191 (GRCm39) I219F probably damaging Het
Bicra A T 7: 15,730,502 (GRCm39) D5E possibly damaging Het
Birc2 A C 9: 7,833,666 (GRCm39) W272G probably damaging Het
Cd2ap A T 17: 43,141,005 (GRCm39) probably benign Het
Celsr1 G A 15: 85,806,436 (GRCm39) R974W probably damaging Het
Col4a2 A C 8: 11,498,167 (GRCm39) T1659P possibly damaging Het
Coq9 C T 8: 95,578,530 (GRCm39) L215F possibly damaging Het
Cped1 A G 6: 22,122,426 (GRCm39) probably benign Het
Elapor2 A T 5: 9,430,282 (GRCm39) D64V probably damaging Het
Gga3 T A 11: 115,482,567 (GRCm39) R105W probably damaging Het
Hmcn1 C T 1: 150,514,620 (GRCm39) R3584Q probably benign Het
Hs6st3 T A 14: 119,376,446 (GRCm39) L207Q probably damaging Het
Mrps31 T G 8: 22,917,841 (GRCm39) F287V probably damaging Het
Naca A G 10: 127,877,551 (GRCm39) probably benign Het
Nrf1 C T 6: 30,098,477 (GRCm39) T135M probably damaging Het
Or5p81 A G 7: 108,266,907 (GRCm39) I95V possibly damaging Het
Pfas A T 11: 68,894,640 (GRCm39) Y8* probably null Het
Ppip5k1 G A 2: 121,177,839 (GRCm39) R323W probably damaging Het
Rasal1 A G 5: 120,802,872 (GRCm39) E376G probably damaging Het
Rfc1 A G 5: 65,437,042 (GRCm39) L546P probably benign Het
Rheb A T 5: 25,012,073 (GRCm39) I129N probably damaging Het
Scpep1 A T 11: 88,843,303 (GRCm39) F52I probably damaging Het
Six2 A T 17: 85,995,319 (GRCm39) L21Q probably damaging Het
Slit1 G T 19: 41,590,694 (GRCm39) T1326K possibly damaging Het
Spata2l T C 8: 123,960,716 (GRCm39) D191G possibly damaging Het
Susd4 C A 1: 182,719,552 (GRCm39) A389D probably damaging Het
Tcaf2 A T 6: 42,601,510 (GRCm39) F850I probably damaging Het
Teddm1b T C 1: 153,750,391 (GRCm39) S67P probably damaging Het
Tiparp T A 3: 65,439,530 (GRCm39) V100D probably damaging Het
Zdhhc14 A G 17: 5,803,067 (GRCm39) H390R probably benign Het
Other mutations in Ift43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ift43 APN 12 86,186,840 (GRCm39) missense probably null 0.35
IGL02704:Ift43 APN 12 86,207,951 (GRCm39) missense probably benign 0.00
R0383:Ift43 UTSW 12 86,208,795 (GRCm39) missense possibly damaging 0.62
R0635:Ift43 UTSW 12 86,131,855 (GRCm39) utr 5 prime probably benign
R5726:Ift43 UTSW 12 86,208,957 (GRCm39) missense probably damaging 1.00
R6679:Ift43 UTSW 12 86,185,592 (GRCm39) missense probably benign
R7592:Ift43 UTSW 12 86,207,964 (GRCm39) missense probably damaging 1.00
R8987:Ift43 UTSW 12 86,208,275 (GRCm39) missense probably benign 0.13
R9666:Ift43 UTSW 12 86,131,920 (GRCm39) missense possibly damaging 0.91
X0026:Ift43 UTSW 12 86,208,228 (GRCm39) missense probably damaging 0.97
Posted On 2013-04-17