Incidental Mutation 'IGL02704:Ift43'
ID 304280
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 # IGL02704
Quality Score
Status
Chromosome 12
Chromosomal Location 86129335-86209233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86207951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 106 (D106E)
Ref Sequence ENSEMBL: ENSMUSP00000152079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054565] [ENSMUST00000222821] [ENSMUST00000222905]
AlphaFold Q9DA69
Predicted Effect probably benign
Transcript: ENSMUST00000054565
AA Change: D95E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061891
Gene: ENSMUSG00000007867
AA Change: D95E

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 benign
Transcript: ENSMUST00000222821
AA Change: D106E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000222905
AA Change: D85E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,673,271 (GRCm39) P162Q probably damaging Het
Alb A G 5: 90,616,368 (GRCm39) N291S possibly damaging Het
Ankar T C 1: 72,691,502 (GRCm39) D935G possibly damaging Het
Atp13a5 A T 16: 29,070,080 (GRCm39) C935* probably null Het
Bivm A T 1: 44,165,606 (GRCm39) T19S probably benign Het
Ddah2 C A 17: 35,279,983 (GRCm39) D158E possibly damaging Het
Dnah7b C T 1: 46,181,293 (GRCm39) T1060I probably benign Het
Efhb T C 17: 53,733,297 (GRCm39) T525A probably damaging Het
Exoc3 A G 13: 74,322,263 (GRCm39) M604T probably benign Het
Frmpd1 T G 4: 45,285,082 (GRCm39) I1301S possibly damaging Het
Gm5269 T C 1: 45,929,235 (GRCm39) T2A probably benign Het
Hif3a T A 7: 16,784,686 (GRCm39) probably benign Het
Hpgds A T 6: 65,100,621 (GRCm39) L119* probably null Het
Iars1 A G 13: 49,874,576 (GRCm39) D750G probably damaging Het
Iqub T A 6: 24,505,909 (GRCm39) probably benign Het
Lamb1 A G 12: 31,368,466 (GRCm39) K1199E probably benign Het
Mast3 T A 8: 71,239,519 (GRCm39) I395F probably damaging Het
Megf8 T C 7: 25,059,207 (GRCm39) S2236P probably damaging Het
Met T A 6: 17,491,256 (GRCm39) V6E possibly damaging Het
Muc5ac A T 7: 141,349,000 (GRCm39) T479S possibly damaging Het
Myo7b T C 18: 32,100,014 (GRCm39) T1623A probably benign Het
Neto1 T C 18: 86,491,948 (GRCm39) L283P probably damaging Het
Onecut1 A G 9: 74,770,312 (GRCm39) N245S probably damaging Het
Or2t6 T C 14: 14,175,483 (GRCm38) I200V probably benign Het
Or4k41 A T 2: 111,279,492 (GRCm39) E2D probably benign Het
Or8b52 G A 9: 38,577,063 (GRCm39) P26S possibly damaging Het
Or8g34 T C 9: 39,373,579 (GRCm39) V284A probably damaging Het
Or8i2 T C 2: 86,852,621 (GRCm39) Q89R probably benign Het
Pkd1l1 A G 11: 8,784,910 (GRCm39) V1958A probably benign Het
Plb1 C T 5: 32,511,011 (GRCm39) A1292V probably benign Het
Plekha5 A G 6: 140,489,592 (GRCm39) E223G probably damaging Het
Pou1f1 A T 16: 65,326,685 (GRCm39) Q121L possibly damaging Het
Rbm25 G A 12: 83,689,500 (GRCm39) G47D probably damaging Het
Rif1 T A 2: 51,983,588 (GRCm39) M577K probably damaging Het
Scn8a A G 15: 100,905,943 (GRCm39) E712G possibly damaging Het
Snx24 A G 18: 53,460,509 (GRCm39) N29S probably benign Het
Tmem217 A T 17: 29,745,532 (GRCm39) V66D probably damaging Het
Ttn T G 2: 76,597,985 (GRCm39) N19643H probably damaging Het
Uimc1 T C 13: 55,178,772 (GRCm39) T646A probably benign Het
Other mutations in Ift43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ift43 APN 12 86,186,840 (GRCm39) missense probably null 0.35
IGL00909:Ift43 APN 12 86,208,807 (GRCm39) missense probably damaging 1.00
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 2015-04-16