Incidental Mutation 'IGL00792:Ift43'
ID 13549
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 # IGL00792
Quality Score
Status
Chromosome 12
Chromosomal Location 86129335-86209233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86186840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 87 (Q87L)
Ref Sequence ENSEMBL: ENSMUSP00000152079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054565] [ENSMUST00000222821] [ENSMUST00000222905]
AlphaFold Q9DA69
Predicted Effect probably null
Transcript: ENSMUST00000054565
AA Change: Q76L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000061891
Gene: ENSMUSG00000007867
AA Change: Q76L

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 null
Transcript: ENSMUST00000222821
AA Change: Q87L

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably null
Transcript: ENSMUST00000222905
AA Change: Q66L

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,228,790 (GRCm39) I346V probably benign Het
Actl7a A T 4: 56,743,944 (GRCm39) Y157F possibly damaging Het
Adcy9 A G 16: 4,106,403 (GRCm39) F904L probably damaging Het
Ap1m1 A G 8: 73,009,599 (GRCm39) D369G possibly damaging Het
Atp23 A T 10: 126,736,969 (GRCm39) probably null Het
Atp5pd A G 11: 115,308,675 (GRCm39) probably null Het
Btf3l4 G A 4: 108,674,056 (GRCm39) S153L probably benign Het
Carf G T 1: 60,165,168 (GRCm39) V117L possibly damaging Het
Cntnap1 C A 11: 101,069,792 (GRCm39) N290K probably benign Het
Dgkb G A 12: 38,264,388 (GRCm39) probably null Het
Dmbt1 T A 7: 130,699,337 (GRCm39) C989S possibly damaging Het
Epb41l1 C T 2: 156,366,939 (GRCm39) R591C probably damaging Het
Fam219a A G 4: 41,521,684 (GRCm39) V74A probably benign Het
Frrs1 T A 3: 116,678,944 (GRCm39) probably null Het
Gm13547 A T 2: 29,653,417 (GRCm39) D85V probably damaging Het
Hipk1 G T 3: 103,685,476 (GRCm39) S46R possibly damaging Het
Ifih1 T A 2: 62,476,214 (GRCm39) R21W probably damaging Het
Itprid2 C T 2: 79,487,807 (GRCm39) A630V probably benign Het
Kcnn1 G A 8: 71,307,360 (GRCm39) L178F probably benign Het
Kel G T 6: 41,678,946 (GRCm39) N172K probably damaging Het
Krtap3-2 A T 11: 99,447,372 (GRCm39) Y85* probably null Het
Lrrc49 A G 9: 60,595,121 (GRCm39) S8P probably damaging Het
Med23 T C 10: 24,752,902 (GRCm39) I20T possibly damaging Het
Pde4d A G 13: 110,071,929 (GRCm39) K364E possibly damaging Het
Ppp2r3d T C 9: 101,088,500 (GRCm39) K608E possibly damaging Het
Robo4 C T 9: 37,319,507 (GRCm39) L586F probably damaging Het
Rprd2 A G 3: 95,692,416 (GRCm39) S191P probably benign Het
Samhd1 A T 2: 156,962,468 (GRCm39) H242Q probably damaging Het
Slc30a9 T A 5: 67,499,452 (GRCm39) N283K probably damaging Het
Slc4a9 T C 18: 36,672,649 (GRCm39) probably benign Het
Stk36 G T 1: 74,650,276 (GRCm39) L269F probably benign Het
Thop1 T A 10: 80,914,433 (GRCm39) L240* probably null Het
Tmem52b T A 6: 129,493,704 (GRCm39) S106T probably damaging Het
Ttn T A 2: 76,555,970 (GRCm39) D30345V probably damaging Het
Vtcn1 T C 3: 100,795,663 (GRCm39) V210A probably damaging Het
Zfp568 A G 7: 29,714,497 (GRCm39) R124G probably benign Het
Other mutations in Ift43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Ift43 APN 12 86,208,807 (GRCm39) missense probably damaging 1.00
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 2012-12-06