Incidental Mutation 'IGL01595:Trip6'
ID93392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trip6
Ensembl Gene ENSMUSG00000023348
Gene Namethyroid hormone receptor interactor 6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01595
Quality Score
Status
Chromosome5
Chromosomal Location137309654-137314404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 137313413 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 101 (T101S)
Ref Sequence ENSEMBL: ENSMUSP00000024119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024119] [ENSMUST00000039991] [ENSMUST00000199121]
Predicted Effect probably benign
Transcript: ENSMUST00000024119
AA Change: T101S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000024119
Gene: ENSMUSG00000023348
AA Change: T101S

DomainStartEndE-ValueType
low complexity region 155 171 N/A INTRINSIC
low complexity region 222 234 N/A INTRINSIC
low complexity region 239 262 N/A INTRINSIC
LIM 282 335 4.59e-14 SMART
LIM 342 394 1.41e-14 SMART
LIM 402 464 5.65e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000039991
SMART Domains Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344

DomainStartEndE-ValueType
Pfam:AA_permease 42 536 1.8e-114 PFAM
Pfam:SLC12 545 639 4.6e-13 PFAM
low complexity region 804 817 N/A INTRINSIC
low complexity region 845 866 N/A INTRINSIC
low complexity region 871 888 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198216
Predicted Effect probably benign
Transcript: ENSMUST00000199121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199564
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 is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 23,078,169 M111V probably damaging Het
Adamts14 A T 10: 61,205,473 H819Q probably damaging Het
Adamts7 T A 9: 90,193,306 N1072K probably benign Het
Ahnak T A 19: 9,003,501 Y716* probably null Het
Arfgef3 T C 10: 18,594,912 K1702E possibly damaging Het
BB014433 C A 8: 15,042,499 probably null Het
Bdnf A T 2: 109,723,928 K176* probably null Het
C2cd5 C T 6: 143,018,022 R879H probably damaging Het
Capn11 T A 17: 45,639,434 H327L probably benign Het
Ccdc68 A G 18: 69,956,046 N220S probably benign Het
Cftr T C 6: 18,198,239 probably benign Het
Clca2 G A 3: 145,088,007 L296F probably damaging Het
Cubn A T 2: 13,325,216 L2618Q probably benign Het
Gfi1b A G 2: 28,611,417 probably null Het
Gpr37 G T 6: 25,669,573 T424N probably damaging Het
Kank3 G A 17: 33,819,180 probably null Het
Kcnh5 T C 12: 74,898,327 Q716R probably benign Het
Kntc1 G A 5: 123,803,695 M1817I probably benign Het
Krt79 T G 15: 101,931,771 E330A probably damaging Het
Mapk15 C A 15: 75,995,280 P82Q probably benign Het
Myh15 A T 16: 49,172,949 D1649V probably damaging Het
Myo1d T C 11: 80,676,110 I326V probably benign Het
Nek9 A T 12: 85,314,420 W504R probably damaging Het
Nlrp4c T A 7: 6,066,112 C337* probably null Het
Nup160 A G 2: 90,729,737 N1269D probably damaging Het
Olfr250 T C 9: 38,368,050 V168A probably benign Het
Olfr594 A G 7: 103,220,351 D211G probably damaging Het
Olfr661 T C 7: 104,688,078 M21T possibly damaging Het
Pde6a A G 18: 61,281,528 M36V probably damaging Het
Perp A G 10: 18,855,659 Q122R probably damaging Het
S100a7a T C 3: 90,657,800 Y101H probably benign Het
Sbk2 C A 7: 4,957,713 V153L possibly damaging Het
Serpinb7 A T 1: 107,428,322 N25I probably damaging Het
Tbx5 A T 5: 119,840,838 D105V probably damaging Het
Ush2a T A 1: 188,654,724 probably null Het
Other mutations in Trip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02330:Trip6 APN 5 137313358 missense probably benign 0.01
IGL02471:Trip6 APN 5 137310356 missense probably benign 0.45
IGL03171:Trip6 APN 5 137312884 missense probably benign 0.01
R0058:Trip6 UTSW 5 137310845 unclassified probably benign
R0139:Trip6 UTSW 5 137312174 missense probably benign 0.01
R0270:Trip6 UTSW 5 137312841 missense probably benign
R0464:Trip6 UTSW 5 137313681 missense probably damaging 1.00
R0735:Trip6 UTSW 5 137310821 missense probably benign 0.07
R1169:Trip6 UTSW 5 137311920 missense probably benign 0.09
R3917:Trip6 UTSW 5 137313679 missense probably benign 0.40
R4774:Trip6 UTSW 5 137310171 missense probably damaging 1.00
R5177:Trip6 UTSW 5 137312172 missense probably damaging 1.00
R7008:Trip6 UTSW 5 137312966 missense probably damaging 1.00
Posted On2013-12-09