Incidental Mutation 'IGL02554:Trip10'
ID298435
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? Possibly non essential (E-score: 0.290) question?
Stock #IGL02554
Quality Score
Status
Chromosome17
Chromosomal Location57249455-57263665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57263135 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 544 (V544A)
Ref Sequence ENSEMBL: ENSMUSP00000153467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019631] [ENSMUST00000224152] [ENSMUST00000224885] [ENSMUST00000224947]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019631
AA Change: V543A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487
AA Change: V543A

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: V600A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224261
Predicted Effect possibly damaging
Transcript: ENSMUST00000224885
AA Change: V599A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224904
Predicted Effect probably damaging
Transcript: ENSMUST00000224947
AA Change: V544A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408B17Rik A G 18: 34,593,015 S112P probably benign Het
9930111J21Rik1 T A 11: 48,948,003 M586L probably damaging Het
Abcg3 T C 5: 104,969,452 D204G possibly damaging Het
Acox3 C A 5: 35,608,366 L588I probably damaging Het
Adamts9 G T 6: 92,880,847 L849I probably benign Het
Alkbh3 T G 2: 93,996,347 T170P probably damaging Het
Anks1b A T 10: 90,921,378 H300L probably damaging Het
Arhgap29 T C 3: 121,992,524 probably benign Het
Cd86 C T 16: 36,618,485 G181D probably benign Het
Cep68 A T 11: 20,240,096 H305Q possibly damaging Het
Clptm1l A T 13: 73,607,760 D165V probably benign Het
Dctn1 T C 6: 83,182,722 Y61H probably damaging Het
Dnah7a A T 1: 53,618,046 M857K possibly damaging Het
Gpr158 A G 2: 21,826,596 M836V probably benign Het
Gria1 G T 11: 57,289,488 A755S possibly damaging Het
Helb G A 10: 120,089,712 T920M probably damaging Het
Hr T C 14: 70,559,866 probably benign Het
Igf2bp1 A G 11: 95,974,168 S152P probably damaging Het
Iqsec1 T C 6: 90,669,345 Y784C probably damaging Het
Ldah T A 12: 8,283,935 C275* probably null Het
Lpin3 T C 2: 160,896,787 S220P probably damaging Het
Med23 T C 10: 24,898,575 probably null Het
Mllt1 T C 17: 56,899,806 D346G probably benign Het
Myef2 A C 2: 125,100,425 probably null Het
Myh2 A G 11: 67,189,165 S1095G probably benign Het
Nav1 A G 1: 135,584,913 silent Het
Olfr512 A G 7: 108,713,742 M118V possibly damaging Het
Piwil2 G A 14: 70,391,486 probably benign Het
Pkhd1l1 T A 15: 44,578,500 F3612I probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
S100pbp A T 4: 129,181,851 probably null Het
Scnn1b T C 7: 121,917,523 I495T probably damaging Het
Sgo2b A C 8: 63,926,537 V1087G probably damaging Het
Sil1 A T 18: 35,348,733 V91E probably damaging Het
Slc5a4b A G 10: 76,110,851 I29T possibly damaging Het
Spink5 A T 18: 44,015,594 N908I probably benign Het
Svopl A C 6: 38,017,043 I351S probably damaging Het
Syngr3 A G 17: 24,686,328 V198A probably benign Het
Tbck C A 3: 132,751,192 Y622* probably null Het
Tex33 A G 15: 78,378,536 M245T possibly damaging Het
Tkt T A 14: 30,558,780 M56K probably damaging Het
Txndc16 T C 14: 45,172,538 E195G probably damaging Het
Vmn2r69 G A 7: 85,409,806 P516S probably damaging Het
Vmn2r74 T C 7: 85,957,373 N255S probably benign Het
Xpo4 T C 14: 57,590,088 T884A probably benign Het
Zdhhc2 A G 8: 40,462,114 N167S probably damaging Het
Other mutations in Trip10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Trip10 APN 17 57254332 missense possibly damaging 0.91
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
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 intron 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
Posted On2015-04-16