Incidental Mutation 'IGL02471:Trip6'
ID294716
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 #IGL02471
Quality Score
Status
Chromosome5
Chromosomal Location137309654-137314404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 137310356 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 414 (P414S)
Ref Sequence ENSEMBL: ENSMUSP00000024119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024119] [ENSMUST00000039991] [ENSMUST00000040873] [ENSMUST00000197466] [ENSMUST00000197484] [ENSMUST00000198526] [ENSMUST00000199121] [ENSMUST00000199243]
Predicted Effect probably benign
Transcript: ENSMUST00000024119
AA Change: P414S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024119
Gene: ENSMUSG00000023348
AA Change: P414S

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 probably benign
Transcript: ENSMUST00000040873
SMART Domains Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 153 262 3.8e-44 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 645 850 9.7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197466
SMART Domains Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 9.5e-48 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 635 845 5.5e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197484
SMART Domains Protein: ENSMUSP00000142660
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 41 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198216
Predicted Effect probably benign
Transcript: ENSMUST00000198526
SMART Domains Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 2e-45 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 369 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199121
Predicted Effect probably benign
Transcript: ENSMUST00000199243
SMART Domains Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 9.5e-48 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 635 849 9.8e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199473
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,258,198 H2378N probably benign Het
Btaf1 C A 19: 37,000,192 A1470E probably damaging Het
Ccdc110 A G 8: 45,941,756 D228G probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn18 T C 9: 99,696,075 D205G probably benign Het
Clip2 T C 5: 134,518,022 T231A probably benign Het
Cltc A G 11: 86,718,034 V723A probably damaging Het
Cpa3 C T 3: 20,228,807 probably null Het
Cyfip2 T G 11: 46,200,803 T1097P possibly damaging Het
Dnah9 T A 11: 65,947,618 R667* probably null Het
Dock10 T C 1: 80,515,622 E1878G probably damaging Het
Ermap G A 4: 119,179,963 H353Y probably damaging Het
Etfa A T 9: 55,486,700 probably null Het
F5 C T 1: 164,174,291 P188S probably damaging Het
Foxq1 G A 13: 31,559,343 E143K possibly damaging Het
Gsr C T 8: 33,682,584 probably benign Het
Hebp1 T A 6: 135,155,276 Y31F probably benign Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Lamb1 T A 12: 31,320,908 D1319E probably damaging Het
Lrp5 A T 19: 3,602,408 V1154E probably benign Het
Manba G A 3: 135,507,008 probably benign Het
Mknk2 A T 10: 80,668,121 F319I probably damaging Het
Mup6 A T 4: 60,003,971 probably benign Het
Nalcn T C 14: 123,323,314 T784A probably benign Het
Nt5dc1 T C 10: 34,403,725 E107G probably benign Het
Olfr1497 G A 19: 13,795,225 P129S probably damaging Het
Olfr688 T A 7: 105,289,045 F317L probably benign Het
Olfr745 A T 14: 50,642,757 I159F probably benign Het
Phldb1 T C 9: 44,711,233 E41G probably damaging Het
Ptk2 T C 15: 73,298,187 D309G probably benign Het
Rab11fip5 A G 6: 85,348,225 S367P probably damaging Het
Rb1cc1 T A 1: 6,240,051 N224K probably benign Het
Rchy1 A T 5: 91,957,546 C65* probably null Het
Rgs18 T C 1: 144,774,621 D56G probably benign Het
Rtraf A C 14: 19,812,228 L197R probably damaging Het
Slc44a5 G T 3: 154,256,576 W382L probably damaging Het
Snx24 C T 18: 53,385,169 probably benign Het
Sphkap T C 1: 83,276,176 D1284G probably damaging Het
Tmem54 A G 4: 129,108,318 M53V probably benign Het
Vmn1r38 A G 6: 66,776,767 Y122H probably benign Het
Wapl T A 14: 34,691,920 N246K possibly damaging Het
Zfp12 G A 5: 143,244,796 G293R probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp446 T G 7: 12,982,254 V209G probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Trip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Trip6 APN 5 137313413 missense probably benign 0.02
IGL02330:Trip6 APN 5 137313358 missense probably benign 0.01
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 On2015-04-16