Incidental Mutation 'IGL01346:Ift88'
ID75051
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 #IGL01346
Quality Score
Status
Chromosome14
Chromosomal Location57424062-57517936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57444405 bp
ZygosityHeterozygous
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]
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: 150,311,060 V135A unknown Het
4930402H24Rik A G 2: 130,791,846 probably benign Het
Cnot4 A T 6: 35,070,248 I143N probably damaging Het
Cnot6l A T 5: 96,086,246 M302K probably damaging Het
Dmxl2 T C 9: 54,415,475 T1542A probably damaging Het
Dnhd1 T C 7: 105,713,909 S3893P probably benign Het
Duox2 A T 2: 122,287,202 probably benign Het
Dusp1 T C 17: 26,506,321 N355D probably benign Het
Fam76b T C 9: 13,829,750 C60R probably damaging Het
Gnptab G A 10: 88,436,179 V944I possibly damaging Het
Gys1 A G 7: 45,442,537 Y249C probably damaging Het
Kcnu1 T C 8: 25,934,523 probably benign Het
Lmln C A 16: 33,117,120 N618K probably benign Het
Lrrc75a T C 11: 62,605,987 T250A probably damaging Het
Mpp4 A G 1: 59,125,560 S435P probably damaging Het
Myo1c T A 11: 75,672,250 V1036E probably damaging Het
Nlrp12 T G 7: 3,240,686 T399P probably damaging Het
Olfr1223 A G 2: 89,144,231 F264S possibly damaging Het
Olfr1388 A G 11: 49,444,768 R306G probably benign Het
Parp8 A T 13: 116,895,064 C332S possibly damaging Het
Pdcd11 G A 19: 47,109,614 V780I probably benign Het
Plekha5 A G 6: 140,534,566 probably benign Het
Ppt1 T A 4: 122,844,055 I62K probably damaging Het
Proser3 T C 7: 30,549,646 N7S probably benign Het
Ptk2b A G 14: 66,177,118 L311P possibly damaging Het
Rasal2 T C 1: 157,161,216 N706S probably benign Het
Ripk2 A G 4: 16,132,775 probably null Het
Setx T A 2: 29,144,809 H435Q probably damaging Het
Smurf2 T A 11: 106,830,915 probably benign Het
Snx32 A G 19: 5,497,736 L182P possibly damaging Het
Stpg2 A G 3: 139,419,874 probably benign Het
Taar2 A G 10: 23,941,099 Y179C probably damaging Het
Tenm2 G A 11: 36,027,405 R1843* probably null Het
Tmco4 T C 4: 139,020,949 I280T probably damaging Het
Tuba4a C A 1: 75,217,277 C46F probably damaging Het
Ubr1 A G 2: 120,873,122 probably null Het
Vldlr A T 19: 27,239,681 I45L possibly damaging Het
Vmn2r120 C A 17: 57,545,232 G28V probably benign Het
Vmn2r37 C A 7: 9,206,681 V611L probably benign Het
Vmn2r67 A G 7: 85,136,919 L626P probably damaging Het
Wdr19 C T 5: 65,221,739 probably benign Het
Zfp595 T A 13: 67,316,685 K505* probably null Het
Other mutations in Ift88
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Ift88 APN 14 57481386 unclassified probably benign
IGL00886:Ift88 APN 14 57478068 missense probably damaging 1.00
IGL00901:Ift88 APN 14 57444445 missense probably damaging 0.99
IGL01148:Ift88 APN 14 57439732 missense probably benign 0.19
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 On2013-10-07