Incidental Mutation 'IGL01071:Trip10'
ID53012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trip10
Ensembl Gene ENSMUSG00000019487
Gene Namethyroid hormone receptor interactor 10
SynonymsCip4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.755) question?
Stock #IGL01071
Quality Score
Status
Chromosome17
Chromosomal Location57249455-57263665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 57254332 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 196 (R196S)
Ref Sequence ENSEMBL: ENSMUSP00000153467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019631] [ENSMUST00000224152] [ENSMUST00000224885] [ENSMUST00000224947] [ENSMUST00000225664]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019631
AA Change: R196S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487
AA Change: R196S

DomainStartEndE-ValueType
FCH 1 94 9.95e-29 SMART
coiled coil region 117 197 N/A INTRINSIC
low complexity region 310 318 N/A INTRINSIC
PDB:2KE4|A 332 425 3e-35 PDB
low complexity region 433 455 N/A INTRINSIC
low complexity region 458 467 N/A INTRINSIC
SH3 489 546 2.44e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000224152
AA Change: R196S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224586
Predicted Effect possibly damaging
Transcript: ENSMUST00000224885
AA Change: R196S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224947
AA Change: R196S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225523
Predicted Effect probably benign
Transcript: ENSMUST00000225664
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,953,153 D124A probably damaging Het
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Cadps C T 14: 12,509,091 probably null Het
Camk2a T C 18: 60,980,156 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Depdc1b A T 13: 108,357,441 Y121F probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr305 T C 7: 86,363,560 K259R possibly damaging Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Psmd14 A G 2: 61,800,063 T306A probably benign Het
Rab32 G A 10: 10,557,847 A81V probably damaging Het
Samd14 G A 11: 95,021,468 probably benign Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Tbkbp1 T C 11: 97,149,562 I9V probably damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in Trip10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01639:Trip10 APN 17 57254165 unclassified probably benign
IGL01758:Trip10 APN 17 57261409 missense possibly damaging 0.51
IGL02184:Trip10 APN 17 57257272 missense probably damaging 1.00
IGL02554:Trip10 APN 17 57263135 missense probably damaging 0.99
IGL02641:Trip10 APN 17 57262411 missense probably benign 0.06
R0092:Trip10 UTSW 17 57250798 missense possibly damaging 0.46
R0139:Trip10 UTSW 17 57261633 splice site probably null
R0179:Trip10 UTSW 17 57262349 splice site probably benign
R1173:Trip10 UTSW 17 57253363 missense probably damaging 0.98
R1416:Trip10 UTSW 17 57250800 missense probably damaging 1.00
R2223:Trip10 UTSW 17 57263039 missense possibly damaging 0.70
R2259:Trip10 UTSW 17 57255135 missense probably benign 0.00
R3950:Trip10 UTSW 17 57253411 critical splice donor site probably null
R4420:Trip10 UTSW 17 57255448 missense probably benign 0.05
R4643:Trip10 UTSW 17 57261658 nonsense probably null
R4940:Trip10 UTSW 17 57263017 missense possibly damaging 0.65
R5189:Trip10 UTSW 17 57261288 critical splice acceptor site probably null
R5595:Trip10 UTSW 17 57262460 missense probably damaging 1.00
R5946:Trip10 UTSW 17 57250963 missense probably damaging 0.99
R6613:Trip10 UTSW 17 57255197 splice site probably null
R6738:Trip10 UTSW 17 57256899 missense probably benign
R6948:Trip10 UTSW 17 57262448 missense probably damaging 1.00
R6994:Trip10 UTSW 17 57255331 missense probably damaging 1.00
R7489:Trip10 UTSW 17 57250966 missense probably damaging 1.00
R7729:Trip10 UTSW 17 57262442 missense probably damaging 1.00
R7750:Trip10 UTSW 17 57261667 missense possibly damaging 0.58
R8260:Trip10 UTSW 17 57257314 missense probably benign
RF024:Trip10 UTSW 17 57255045 missense probably benign 0.00
Posted On2013-06-21