Incidental Mutation 'R1422:Ift88'
ID 161144
Institutional Source Beutler Lab
Gene Symbol Ift88
Ensembl Gene ENSMUSG00000040040
Gene Name intraflagellar transport 88
Synonyms Oak Ridge polycystic kidneys, IFT88, Ttc10, Tg737, Tg737Rpw, fxo, polaris, orpk, TgN737Rpw
MMRRC Submission 039478-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1422 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 57661519-57755393 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 57675758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122063] [ENSMUST00000150296]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119952
Predicted Effect probably benign
Transcript: ENSMUST00000122063
SMART Domains Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.6%
Validation Efficiency 100% (51/51)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,610,333 (GRCm39) T170A probably benign Het
Arhgap5 T A 12: 52,566,297 (GRCm39) D1089E probably damaging Het
Atrn T C 2: 130,799,834 (GRCm39) Y404H probably damaging Het
Becn1 T C 11: 101,185,952 (GRCm39) D98G possibly damaging Het
Coro2b A G 9: 62,336,229 (GRCm39) probably null Het
Cpne4 T C 9: 104,777,484 (GRCm39) I143T probably damaging Het
Cr2 A G 1: 194,853,433 (GRCm39) I35T probably benign Het
Ctns T C 11: 73,076,072 (GRCm39) Y321C probably damaging Het
Cyp4f16 A T 17: 32,761,973 (GRCm39) M174L probably damaging Het
Dpy19l4 T C 4: 11,317,168 (GRCm39) E10G possibly damaging Het
Dtx3 T A 10: 127,027,158 (GRCm39) I339F possibly damaging Het
Fam184a A T 10: 53,551,304 (GRCm39) M625K probably benign Het
Fgd6 A G 10: 93,881,234 (GRCm39) E696G probably damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Gria1 T A 11: 57,080,614 (GRCm39) L199Q probably benign Het
Hk1 T C 10: 62,131,873 (GRCm39) D184G probably null Het
Igsf1 C A X: 48,871,813 (GRCm39) G737* probably null Het
Kif19a A G 11: 114,676,635 (GRCm39) D488G probably benign Het
Lpcat2 T C 8: 93,606,045 (GRCm39) L232P probably damaging Het
Ly9 A G 1: 171,428,780 (GRCm39) V280A probably damaging Het
Macrod2 T A 2: 140,261,861 (GRCm39) probably null Het
Mmp1a A G 9: 7,464,298 (GRCm39) probably null Het
Mmrn2 A G 14: 34,118,196 (GRCm39) H80R probably damaging Het
Or2b4 T C 17: 38,116,254 (GRCm39) Y73H probably damaging Het
Or51f23 G A 7: 102,453,057 (GRCm39) R124H probably benign Het
Or5l13 G A 2: 87,780,439 (GRCm39) T46I probably benign Het
Pkd1l3 C A 8: 110,348,340 (GRCm39) P194H unknown Het
Plk2 A G 13: 110,536,023 (GRCm39) M576V probably damaging Het
Pms2 T A 5: 143,850,523 (GRCm39) S113T probably damaging Het
Ptprk A G 10: 28,351,276 (GRCm39) I590V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rad17 A G 13: 100,781,590 (GRCm39) L69P probably benign Het
Rmc1 G A 18: 12,314,680 (GRCm39) D87N probably damaging Het
Robo2 G A 16: 73,775,336 (GRCm39) T466M probably damaging Het
Sema6a A G 18: 47,439,498 (GRCm39) C9R probably benign Het
Slc6a19 A G 13: 73,833,988 (GRCm39) S357P probably benign Het
Spata31e2 C G 1: 26,721,547 (GRCm39) S1211T possibly damaging Het
Spock3 T C 8: 63,597,023 (GRCm39) I109T possibly damaging Het
Svs6 T C 2: 164,159,580 (GRCm39) probably null Het
Tenm4 A T 7: 96,199,258 (GRCm39) D17V probably damaging Het
Trp53bp2 T A 1: 182,274,029 (GRCm39) M558K probably benign Het
Ttn T C 2: 76,572,014 (GRCm39) E26293G probably damaging Het
Vmn1r29 A G 6: 58,284,871 (GRCm39) Y197C probably damaging Het
Wdfy3 A T 5: 102,032,080 (GRCm39) probably benign Het
Zfp366 A G 13: 99,365,804 (GRCm39) K322E 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
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
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
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
Predicted Primers PCR Primer
(F):5'- AGCAAAATGGCTTCAGAGCCCAG -3'
(R):5'- TGCTCCAGAAGGGCAAAGCATCAG -3'

Sequencing Primer
(F):5'- tcgtatagccacaggtgatg -3'
(R):5'- GCCTCTCACTTGAGACTGAAG -3'
Posted On 2014-03-14