Incidental Mutation 'IGL00886:Ift88'
ID28917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift88
Ensembl Gene ENSMUSG00000040040
Gene Nameintraflagellar transport 88
SynonymsTg737Rpw, IFT88, Tg737, polaris, Oak Ridge polycystic kidneys, TgN737Rpw, orpk, fxo, Ttc10
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00886
Quality Score
Status
Chromosome14
Chromosomal Location57424062-57517936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57478068 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 523 (Y523H)
Ref Sequence ENSEMBL: ENSMUSP00000113768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122063]
Predicted Effect probably damaging
Transcript: ENSMUST00000122063
AA Change: Y523H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: Y523H

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,163,275 R67H possibly damaging Het
Ak4 G T 4: 101,447,189 E59* probably null Het
Ano10 T C 9: 122,271,324 N116S probably benign Het
Arid1b T A 17: 5,126,979 H658Q probably damaging Het
Atf2 G A 2: 73,845,503 T208I possibly damaging Het
Bco1 T C 8: 117,130,637 W448R probably damaging Het
Cel A T 2: 28,559,385 C277S probably damaging Het
Chd5 T A 4: 152,359,699 D296E probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Fmo9 T C 1: 166,680,145 probably null Het
Gdpgp1 T G 7: 80,239,352 L377R probably damaging Het
Gm26938 T A 5: 139,826,336 D3V probably damaging Het
Gpld1 T A 13: 24,962,353 Y193* probably null Het
Gtf2h4 T C 17: 35,669,982 H265R probably damaging Het
Hadh G T 3: 131,249,816 T83K probably benign Het
Hao1 T C 2: 134,523,159 M183V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Il23r G T 6: 67,473,890 Q202K possibly damaging Het
Iyd T C 10: 3,540,444 D50A probably benign Het
Katnal2 A T 18: 77,002,754 L248Q probably damaging Het
Krtap26-1 A T 16: 88,647,379 V118E possibly damaging Het
Lzic T C 4: 149,493,296 probably null Het
Mical2 T A 7: 112,315,072 N316K probably benign Het
Ndufc2 T A 7: 97,400,190 M1K probably null Het
Net1 A G 13: 3,893,391 probably benign Het
Olfr309 G A 7: 86,307,051 L21F probably damaging Het
Pde1c A G 6: 56,173,674 Y287H probably damaging Het
Pitpnm1 T C 19: 4,110,665 probably null Het
Pla2r1 T A 2: 60,424,324 E1300V probably damaging Het
Polr3g T C 13: 81,694,677 Y73C probably damaging Het
Ryr1 T A 7: 29,024,229 E4137V probably damaging Het
Scrib T C 15: 76,048,794 D1425G possibly damaging Het
Slc25a12 A G 2: 71,344,032 Y23H possibly damaging Het
Spef2 C A 15: 9,663,095 G867W probably damaging Het
Strn3 A T 12: 51,610,150 Y698N probably damaging Het
Tldc1 T C 8: 119,773,268 probably benign Het
Ube3a T A 7: 59,284,737 F533I probably damaging Het
Other mutations in Ift88
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Ift88 APN 14 57481386 unclassified probably benign
IGL00901:Ift88 APN 14 57444445 missense probably damaging 0.99
IGL01148:Ift88 APN 14 57439732 missense probably benign 0.19
IGL01346:Ift88 APN 14 57444405 missense probably damaging 1.00
IGL01474:Ift88 APN 14 57478074 missense probably benign 0.23
IGL02213:Ift88 APN 14 57478045 missense probably damaging 1.00
IGL02391:Ift88 APN 14 57481414 missense possibly damaging 0.64
IGL03087:Ift88 APN 14 57477957 missense probably benign 0.00
R0392:Ift88 UTSW 14 57496160 splice site probably benign
R0608:Ift88 UTSW 14 57496221 missense probably benign
R0718:Ift88 UTSW 14 57517413 missense probably benign 0.02
R1128:Ift88 UTSW 14 57517019 nonsense probably null
R1422:Ift88 UTSW 14 57438301 splice site probably benign
R1422:Ift88 UTSW 14 57472979 missense probably damaging 1.00
R1432:Ift88 UTSW 14 57437279 missense probably benign
R1518:Ift88 UTSW 14 57430628 missense possibly damaging 0.64
R1566:Ift88 UTSW 14 57441011 missense probably benign 0.36
R1819:Ift88 UTSW 14 57455519 missense probably damaging 1.00
R2239:Ift88 UTSW 14 57455504 missense probably damaging 1.00
R2273:Ift88 UTSW 14 57488936 missense possibly damaging 0.90
R2926:Ift88 UTSW 14 57488918 missense probably damaging 1.00
R3033:Ift88 UTSW 14 57478044 missense probably damaging 1.00
R3052:Ift88 UTSW 14 57430568 missense probably damaging 1.00
R3815:Ift88 UTSW 14 57440981 missense possibly damaging 0.88
R4411:Ift88 UTSW 14 57477979 missense probably damaging 0.99
R4703:Ift88 UTSW 14 57480850 unclassified probably benign
R4704:Ift88 UTSW 14 57480850 unclassified probably benign
R4822:Ift88 UTSW 14 57441869 splice site probably null
R5355:Ift88 UTSW 14 57438242 missense probably benign 0.34
R5618:Ift88 UTSW 14 57481508 missense possibly damaging 0.72
R6602:Ift88 UTSW 14 57507259 missense probably benign 0.00
R6907:Ift88 UTSW 14 57445610 missense probably benign 0.23
R7241:Ift88 UTSW 14 57479997 missense probably damaging 0.97
R7243:Ift88 UTSW 14 57430536 critical splice acceptor site probably null
Posted On2013-04-17