Incidental Mutation 'IGL02213:Ift88'
ID284753
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 #IGL02213
Quality Score
Status
Chromosome14
Chromosomal Location57424062-57517936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57478045 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 515 (D515G)
Ref Sequence ENSEMBL: ENSMUSP00000113768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122063]
Predicted Effect probably damaging
Transcript: ENSMUST00000122063
AA Change: D515G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: D515G

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
Acsbg1 G A 9: 54,615,970 R458C probably damaging Het
Aldh6a1 T A 12: 84,432,552 probably benign Het
Ankrd13a C T 5: 114,785,968 R42W probably damaging Het
Arhgef17 T C 7: 100,890,426 M73V probably benign Het
Borcs6 A G 11: 69,059,853 E19G probably benign Het
Cacna2d2 C T 9: 107,514,048 R425C probably damaging Het
Cap2 T A 13: 46,635,611 probably benign Het
Ccdc146 C T 5: 21,316,904 R374H probably benign Het
Cdk5rap2 A G 4: 70,317,602 probably benign Het
Cyp3a57 A G 5: 145,381,280 D357G probably damaging Het
Dleu7 C T 14: 62,276,955 V193M probably benign Het
Dmxl1 T A 18: 49,877,674 probably benign Het
Dnah7b T A 1: 46,233,592 F2293L probably damaging Het
Fgf22 G T 10: 79,756,615 V75L probably damaging Het
Fras1 C A 5: 96,645,871 C1017* probably null Het
Frmd3 A C 4: 74,135,872 I173L probably benign Het
Fst T C 13: 114,455,854 N109S possibly damaging Het
Greb1 A G 12: 16,706,232 L801P probably damaging Het
Kcnh7 T C 2: 62,739,362 D730G probably damaging Het
Mbd1 A T 18: 74,275,382 I231F probably damaging Het
Mre11a T A 9: 14,811,884 F358I probably damaging Het
Mroh9 G T 1: 163,058,079 T328K probably damaging Het
Nostrin T C 2: 69,183,918 L406P probably benign Het
Ntrk3 T A 7: 78,462,931 Q159L probably benign Het
Oca2 T C 7: 56,321,484 probably benign Het
Olfr1299 A T 2: 111,664,675 T150S probably benign Het
Olfr474 T C 7: 107,955,304 I221T probably damaging Het
Olfr609 T A 7: 103,492,488 H130L probably benign Het
Pfdn4 C T 2: 170,515,775 Q21* probably null Het
Pkd1l3 T C 8: 109,631,345 F823S probably damaging Het
Rnf212 C T 5: 108,747,410 probably benign Het
Sbspon T C 1: 15,858,926 S214G probably benign Het
Slc12a7 T C 13: 73,797,703 probably null Het
Ugt3a2 A T 15: 9,370,224 M485L probably benign Het
Vav1 T C 17: 57,305,351 V561A possibly damaging Het
Vldlr A G 19: 27,241,326 T485A probably benign Het
Wiz T C 17: 32,367,860 T159A probably benign 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
IGL01346:Ift88 APN 14 57444405 missense probably damaging 1.00
IGL01474:Ift88 APN 14 57478074 missense probably benign 0.23
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
Posted On2015-04-16