Incidental Mutation 'R7243:Ift88'
ID 563383
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 045307-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 57661519-57755393 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 57667993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122063] [ENSMUST00000150296]
AlphaFold no structure available at present
Predicted Effect probably null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Aox3 G T 1: 58,177,466 (GRCm39) G227V unknown Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Cog6 A T 3: 52,909,736 (GRCm39) W314R probably damaging Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcho2 T C 13: 98,891,724 (GRCm39) D346G possibly damaging Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Fyb1 T C 15: 6,673,180 (GRCm39) F605L probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or2t47 T C 11: 58,442,227 (GRCm39) I279M probably damaging Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcca A G 14: 123,114,186 (GRCm39) H633R probably benign Het
Pcdhb22 A G 18: 37,653,685 (GRCm39) R461G probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptbp2 G T 3: 119,546,761 (GRCm39) N40K possibly damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q 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
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
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'- AGAAATAAGTTTTGACAGTTTGGGG -3'
(R):5'- CAGCCACTGTCACTGGTAGG -3'

Sequencing Primer
(F):5'- TTGACAGTTTGGGGAATTTGGAAAAG -3'
(R):5'- CCACTGTCACTGGTAGGAATTATGAG -3'
Posted On 2019-06-26