Incidental Mutation 'IGL00909: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 #IGL00909
Quality Score
Chromosomal Location86082541-86162459 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86162033 bp
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]
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

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: 46,308,952 D94V possibly damaging Het
9330182L06Rik A T 5: 9,380,282 D64V probably damaging Het
Adamts20 T C 15: 94,379,813 Y256C probably damaging Het
Ampd1 A C 3: 103,088,428 D218A probably benign Het
Arcn1 T C 9: 44,751,354 N332D probably damaging Het
Arpp21 T A 9: 112,176,123 I219F probably damaging Het
Bicra A T 7: 15,996,577 D5E possibly damaging Het
Birc2 A C 9: 7,833,665 W272G probably damaging Het
Cd2ap A T 17: 42,830,114 probably benign Het
Celsr1 G A 15: 85,922,235 R974W probably damaging Het
Col4a2 A C 8: 11,448,167 T1659P possibly damaging Het
Coq9 C T 8: 94,851,902 L215F possibly damaging Het
Cped1 A G 6: 22,122,427 probably benign Het
Gga3 T A 11: 115,591,741 R105W probably damaging Het
Gm996 A G 2: 25,579,407 L164P probably damaging Het
Hmcn1 C T 1: 150,638,869 R3584Q probably benign Het
Hs6st3 T A 14: 119,139,034 L207Q probably damaging Het
Mrps31 T G 8: 22,427,825 F287V probably damaging Het
Naca A G 10: 128,041,682 probably benign Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Olfr510 A G 7: 108,667,700 I95V possibly damaging Het
Pfas A T 11: 69,003,814 Y8* probably null Het
Ppip5k1 G A 2: 121,347,358 R323W probably damaging Het
Rasal1 A G 5: 120,664,807 E376G probably damaging Het
Rfc1 A G 5: 65,279,699 L546P probably benign Het
Rheb A T 5: 24,807,075 I129N probably damaging Het
Scpep1 A T 11: 88,952,477 F52I probably damaging Het
Six2 A T 17: 85,687,891 L21Q probably damaging Het
Slit1 G T 19: 41,602,255 T1326K possibly damaging Het
Spata2l T C 8: 123,233,977 D191G possibly damaging Het
Susd4 C A 1: 182,891,987 A389D probably damaging Het
Tcaf2 A T 6: 42,624,576 F850I probably damaging Het
Teddm1b T C 1: 153,874,645 S67P probably damaging Het
Tiparp T A 3: 65,532,109 V100D probably damaging Het
Zdhhc14 A G 17: 5,752,792 H390R probably benign Het
Other mutations in Ift43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ift43 APN 12 86140066 missense probably null 0.35
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 On2013-04-17