Incidental Mutation 'IGL00901:Ift88'
ID 28923
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift88
Ensembl Gene ENSMUSG00000040040
Gene Name intraflagellar transport 88
Synonyms Oak Ridge polycystic kidneys, IFT88, Ttc10, Tg737, Tg737Rpw, fxo, polaris, orpk, TgN737Rpw
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00901
Quality Score
Status
Chromosome 14
Chromosomal Location 57661519-57755393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57681902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 229 (F229I)
Ref Sequence ENSEMBL: ENSMUSP00000113768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122063] [ENSMUST00000150296]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000122063
AA Change: F229I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: F229I

DomainStartEndE-ValueType
Blast:TPR 197 229 8e-12 BLAST
TPR 233 266 5.35e-5 SMART
TPR 272 305 5.78e-1 SMART
TPR 485 518 5.73e-5 SMART
TPR 519 552 9.83e-4 SMART
TPR 553 586 5.19e-3 SMART
TPR 587 620 3.87e-2 SMART
Blast:TPR 621 654 7e-12 BLAST
TPR 655 688 3.76e0 SMART
low complexity region 730 748 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154492
Predicted Effect unknown
Transcript: ENSMUST00000171682
AA Change: F1I
SMART Domains Protein: ENSMUSP00000130475
Gene: ENSMUSG00000040040
AA Change: F1I

DomainStartEndE-ValueType
Pfam:DUF3808 1 164 2.7e-8 PFAM
Pfam:TPR_11 3 76 8.7e-11 PFAM
Pfam:TPR_12 3 77 3.8e-11 PFAM
Pfam:TPR_8 6 37 7e-4 PFAM
Pfam:TPR_2 7 38 1.8e-6 PFAM
Pfam:TPR_1 7 39 3.4e-9 PFAM
Pfam:TPR_7 8 41 1.9e-7 PFAM
Pfam:TPR_8 45 78 2.2e-3 PFAM
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 member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot6 A G 12: 84,153,250 (GRCm39) Y164C probably benign Het
Anpep A G 7: 79,489,171 (GRCm39) S334P probably benign Het
Arhgef1 A G 7: 24,612,118 (GRCm39) E129G probably damaging Het
Bmt2 G T 6: 13,628,748 (GRCm39) H312N probably damaging Het
Brme1 A G 8: 84,893,400 (GRCm39) D189G probably damaging Het
Ces2g A G 8: 105,691,761 (GRCm39) Y272C probably benign Het
Cfap69 T A 5: 5,669,162 (GRCm39) probably benign Het
Cftr T C 6: 18,268,429 (GRCm39) probably null Het
Clec2g A G 6: 128,925,655 (GRCm39) probably benign Het
Cyp2b9 A T 7: 25,897,930 (GRCm39) I245F probably damaging Het
Fbxo6 T A 4: 148,230,600 (GRCm39) I221F probably damaging Het
Fbxw21 A C 9: 108,985,467 (GRCm39) C104G probably benign Het
Flna A G X: 73,273,534 (GRCm39) S101P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Map2k3 T C 11: 60,832,747 (GRCm39) S31P probably benign Het
Mia2 A G 12: 59,154,815 (GRCm39) D176G probably damaging Het
Or12d2 T G 17: 37,624,598 (GRCm39) K226Q possibly damaging Het
Or12e10 A G 2: 87,640,992 (GRCm39) Y276C probably damaging Het
Or14j6 T A 17: 38,215,148 (GRCm39) V237D probably damaging Het
Pde7b C T 10: 20,494,875 (GRCm39) probably null Het
Polr3b T C 10: 84,467,660 (GRCm39) I80T possibly damaging Het
Prpf4b T A 13: 35,078,465 (GRCm39) Y692N probably damaging Het
Rabl2 T C 15: 89,474,473 (GRCm39) probably benign Het
Rasgrp1 T C 2: 117,115,611 (GRCm39) K659R probably damaging Het
Ryr3 A T 2: 112,716,934 (GRCm39) S774T probably damaging Het
Sema5b C T 16: 35,471,685 (GRCm39) T426M probably damaging Het
Serpinb10 A G 1: 107,468,726 (GRCm39) K123R probably benign Het
Slc33a1 T C 3: 63,871,433 (GRCm39) D60G probably benign Het
Tnks A T 8: 35,305,549 (GRCm39) Y92* probably null Het
Tvp23b T A 11: 62,774,606 (GRCm39) probably benign Het
Wnk1 T A 6: 119,937,669 (GRCm39) Q1218L probably damaging Het
Other mutations in Ift88
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Ift88 APN 14 57,718,843 (GRCm39) unclassified probably benign
IGL00886:Ift88 APN 14 57,715,525 (GRCm39) missense probably damaging 1.00
IGL01148:Ift88 APN 14 57,677,189 (GRCm39) missense probably benign 0.19
IGL01346:Ift88 APN 14 57,681,862 (GRCm39) missense probably damaging 1.00
IGL01474:Ift88 APN 14 57,715,531 (GRCm39) missense probably benign 0.23
IGL02213:Ift88 APN 14 57,715,502 (GRCm39) missense probably damaging 1.00
IGL02391:Ift88 APN 14 57,718,871 (GRCm39) missense possibly damaging 0.64
IGL03087:Ift88 APN 14 57,715,414 (GRCm39) missense probably benign 0.00
R0392:Ift88 UTSW 14 57,733,617 (GRCm39) splice site probably benign
R0608:Ift88 UTSW 14 57,733,678 (GRCm39) missense probably benign
R0718:Ift88 UTSW 14 57,754,870 (GRCm39) missense probably benign 0.02
R1128:Ift88 UTSW 14 57,754,476 (GRCm39) nonsense probably null
R1422:Ift88 UTSW 14 57,710,436 (GRCm39) missense probably damaging 1.00
R1422:Ift88 UTSW 14 57,675,758 (GRCm39) splice site probably benign
R1432:Ift88 UTSW 14 57,674,736 (GRCm39) missense probably benign
R1518:Ift88 UTSW 14 57,668,085 (GRCm39) missense possibly damaging 0.64
R1566:Ift88 UTSW 14 57,678,468 (GRCm39) missense probably benign 0.36
R1819:Ift88 UTSW 14 57,692,976 (GRCm39) missense probably damaging 1.00
R2239:Ift88 UTSW 14 57,692,961 (GRCm39) missense probably damaging 1.00
R2273:Ift88 UTSW 14 57,726,393 (GRCm39) missense possibly damaging 0.90
R2926:Ift88 UTSW 14 57,726,375 (GRCm39) missense probably damaging 1.00
R3033:Ift88 UTSW 14 57,715,501 (GRCm39) missense probably damaging 1.00
R3052:Ift88 UTSW 14 57,668,025 (GRCm39) missense probably damaging 1.00
R3815:Ift88 UTSW 14 57,678,438 (GRCm39) missense possibly damaging 0.88
R4411:Ift88 UTSW 14 57,715,436 (GRCm39) missense probably damaging 0.99
R4703:Ift88 UTSW 14 57,718,307 (GRCm39) unclassified probably benign
R4704:Ift88 UTSW 14 57,718,307 (GRCm39) unclassified probably benign
R4822:Ift88 UTSW 14 57,679,326 (GRCm39) splice site probably null
R5355:Ift88 UTSW 14 57,675,699 (GRCm39) missense probably benign 0.34
R5618:Ift88 UTSW 14 57,718,965 (GRCm39) missense possibly damaging 0.72
R6602:Ift88 UTSW 14 57,744,716 (GRCm39) missense probably benign 0.00
R6907:Ift88 UTSW 14 57,683,067 (GRCm39) missense probably benign 0.23
R7241:Ift88 UTSW 14 57,717,454 (GRCm39) missense probably damaging 0.97
R7243:Ift88 UTSW 14 57,667,993 (GRCm39) critical splice acceptor site probably null
R7736:Ift88 UTSW 14 57,683,121 (GRCm39) missense probably benign 0.18
R7766:Ift88 UTSW 14 57,685,111 (GRCm39) missense possibly damaging 0.65
R8526:Ift88 UTSW 14 57,683,126 (GRCm39) nonsense probably null
R9018:Ift88 UTSW 14 57,675,702 (GRCm39) missense probably benign 0.20
R9289:Ift88 UTSW 14 57,718,199 (GRCm39) missense probably benign
R9340:Ift88 UTSW 14 57,718,920 (GRCm39) missense probably damaging 1.00
R9369:Ift88 UTSW 14 57,685,137 (GRCm39) missense probably benign 0.10
R9399:Ift88 UTSW 14 57,717,385 (GRCm39) missense probably benign 0.00
R9485:Ift88 UTSW 14 57,675,724 (GRCm39) missense probably benign 0.00
R9712:Ift88 UTSW 14 57,718,853 (GRCm39) missense probably damaging 1.00
R9759:Ift88 UTSW 14 57,672,256 (GRCm39) nonsense probably null
Posted On 2013-04-17