Incidental Mutation 'IGL01474:Ift88'
ID 88387
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 # IGL01474
Quality Score
Status
Chromosome 14
Chromosomal Location 57661519-57755393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57715531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 525 (I525F)
Ref Sequence ENSEMBL: ENSMUSP00000113768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122063]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000122063
AA Change: I525F

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: I525F

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 noncoding transcript
Transcript: ENSMUST00000139943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154492
Predicted Effect probably benign
Transcript: ENSMUST00000171682
SMART Domains Protein: ENSMUSP00000130475
Gene: ENSMUSG00000040040

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A T 13: 91,920,902 (GRCm39) K336I possibly damaging Het
Acsbg2 A G 17: 57,168,621 (GRCm39) I166T possibly damaging Het
Adrm1b G T 3: 92,335,650 (GRCm39) Q351K probably damaging Het
Bpifc T A 10: 85,836,503 (GRCm39) M1L probably damaging Het
Ccnb2 T A 9: 70,326,305 (GRCm39) N44I probably benign Het
Cdc73 C T 1: 143,547,070 (GRCm39) V276M probably benign Het
Cnot7 A G 8: 40,960,490 (GRCm39) probably null Het
Col11a1 T A 3: 114,010,783 (GRCm39) probably benign Het
Coro1c T C 5: 114,020,216 (GRCm39) probably benign Het
Crocc A G 4: 140,762,703 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,102,493 (GRCm39) Y396N probably benign Het
Gm2888 T A 14: 3,032,041 (GRCm38) D116E probably damaging Het
Gm29326 A T 7: 29,262,014 (GRCm39) noncoding transcript Het
Greb1 A G 12: 16,734,502 (GRCm39) V1496A probably benign Het
H2bc18 A G 3: 96,177,125 (GRCm39) probably benign Het
Hdac7 A G 15: 97,695,820 (GRCm39) probably null Het
Hectd4 A G 5: 121,474,712 (GRCm39) T2778A possibly damaging Het
Hivep2 A T 10: 14,019,406 (GRCm39) H2059L probably damaging Het
Irag1 A T 7: 110,470,640 (GRCm39) S898T possibly damaging Het
Itga5 G A 15: 103,262,697 (GRCm39) Q324* probably null Het
Klhl14 T G 18: 21,690,911 (GRCm39) H513P probably damaging Het
Lama5 A T 2: 179,838,363 (GRCm39) D837E probably damaging Het
Muc6 C A 7: 141,237,572 (GRCm39) C215F probably damaging Het
Myh15 A G 16: 48,952,461 (GRCm39) K844E probably damaging Het
Neb A G 2: 52,218,917 (GRCm39) V31A unknown Het
Nipbl A G 15: 8,340,693 (GRCm39) I2009T possibly damaging Het
Or2ag18 A G 7: 106,405,147 (GRCm39) I174T probably benign Het
Piwil2 T C 14: 70,635,667 (GRCm39) R536G probably benign Het
Pld3 A G 7: 27,232,044 (GRCm39) V412A probably damaging Het
Prkaa2 A C 4: 104,906,529 (GRCm39) probably null Het
Rdh9 T C 10: 127,626,814 (GRCm39) L289P probably damaging Het
Rusc2 C T 4: 43,416,434 (GRCm39) S580L probably damaging Het
Sidt2 A G 9: 45,858,280 (GRCm39) probably null Het
Slc18b1 A T 10: 23,679,748 (GRCm39) K92N probably benign Het
Slc20a2 G A 8: 23,025,573 (GRCm39) V92M possibly damaging Het
Slc4a11 A T 2: 130,527,464 (GRCm39) F644I probably damaging Het
Spata31d1d A T 13: 59,878,029 (GRCm39) probably benign Het
Spef2 T C 15: 9,663,244 (GRCm39) M846V probably benign Het
Syncrip T C 9: 88,362,800 (GRCm39) T3A probably benign 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
IGL00901:Ift88 APN 14 57,681,902 (GRCm39) missense probably damaging 0.99
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
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 2013-11-18