Incidental Mutation 'IGL01346:Ift88'
ID 75051
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 # IGL01346
Quality Score
Status
Chromosome 14
Chromosomal Location 57661519-57755393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57681862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 215 (E215D)
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: E215D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: E215D

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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null 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
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 2013-10-07