Incidental Mutation 'IGL00792:Ift43'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift43
Ensembl Gene ENSMUSG00000007867
Gene Nameintraflagellar transport 43
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00792
Quality Score
Chromosomal Location86082541-86162459 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86140066 bp
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]
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

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: 14,410,926 I346V probably benign Het
Actl7a A T 4: 56,743,944 Y157F possibly damaging Het
Adcy9 A G 16: 4,288,539 F904L probably damaging Het
Ap1m1 A G 8: 72,255,755 D369G possibly damaging Het
Atp23 A T 10: 126,901,100 probably null Het
Atp5h A G 11: 115,417,849 probably null Het
Btf3l4 G A 4: 108,816,859 S153L probably benign Het
Carf G T 1: 60,126,009 V117L possibly damaging Het
Cntnap1 C A 11: 101,178,966 N290K probably benign Het
Dgkb G A 12: 38,214,389 probably null Het
Dmbt1 T A 7: 131,097,607 C989S possibly damaging Het
Epb41l1 C T 2: 156,525,019 R591C probably damaging Het
Fam219a A G 4: 41,521,684 V74A probably benign Het
Frrs1 T A 3: 116,885,295 probably null Het
Gm13547 A T 2: 29,763,405 D85V probably damaging Het
Hipk1 G T 3: 103,778,160 S46R possibly damaging Het
Ifih1 T A 2: 62,645,870 R21W probably damaging Het
Kcnn1 G A 8: 70,854,716 L178F probably benign Het
Kel G T 6: 41,702,012 N172K probably damaging Het
Krtap3-2 A T 11: 99,556,546 Y85* probably null Het
Lrrc49 A G 9: 60,687,838 S8P probably damaging Het
Med23 T C 10: 24,877,004 I20T possibly damaging Het
Pde4d A G 13: 109,935,395 K364E possibly damaging Het
Ppp2r3a T C 9: 101,211,301 K608E possibly damaging Het
Robo4 C T 9: 37,408,211 L586F probably damaging Het
Rprd2 A G 3: 95,785,104 S191P probably benign Het
Samhd1 A T 2: 157,120,548 H242Q probably damaging Het
Slc30a9 T A 5: 67,342,109 N283K probably damaging Het
Slc4a9 T C 18: 36,539,596 probably benign Het
Ssfa2 C T 2: 79,657,463 A630V probably benign Het
Stk36 G T 1: 74,611,117 L269F probably benign Het
Thop1 T A 10: 81,078,599 L240* probably null Het
Tmem52b T A 6: 129,516,741 S106T probably damaging Het
Ttn T A 2: 76,725,626 D30345V probably damaging Het
Vtcn1 T C 3: 100,888,347 V210A probably damaging Het
Zfp568 A G 7: 30,015,072 R124G probably benign Het
Other mutations in Ift43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Ift43 APN 12 86162033 missense probably damaging 1.00
IGL02704:Ift43 APN 12 86161177 missense probably benign 0.00
R0383:Ift43 UTSW 12 86162021 missense possibly damaging 0.62
R0635:Ift43 UTSW 12 86085081 utr 5 prime probably benign
R5726:Ift43 UTSW 12 86162183 missense probably damaging 1.00
R6679:Ift43 UTSW 12 86138818 missense probably benign
R7592:Ift43 UTSW 12 86161190 missense probably damaging 1.00
X0026:Ift43 UTSW 12 86161454 missense probably damaging 0.97
Posted On2012-12-06