Incidental Mutation 'IGL03171:Trip6'
ID 411848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trip6
Ensembl Gene ENSMUSG00000023348
Gene Name thyroid hormone receptor interactor 6
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03171
Quality Score
Status
Chromosome 5
Chromosomal Location 137308160-137312469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137311146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 190 (R190Q)
Ref Sequence ENSEMBL: ENSMUSP00000024119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024119] [ENSMUST00000039991] [ENSMUST00000199121]
AlphaFold Q9Z1Y4
Predicted Effect probably benign
Transcript: ENSMUST00000024119
AA Change: R190Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000024119
Gene: ENSMUSG00000023348
AA Change: R190Q

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T A 6: 83,139,377 (GRCm39) F434Y possibly damaging Het
Adam19 G T 11: 46,029,681 (GRCm39) A709S probably damaging Het
Adgrf3 A T 5: 30,401,292 (GRCm39) L42Q probably damaging Het
D430041D05Rik T C 2: 104,071,508 (GRCm39) N1264S possibly damaging Het
Dnah9 T G 11: 65,872,067 (GRCm39) K2721T probably benign Het
Efr3b C T 12: 4,018,622 (GRCm39) A575T probably benign Het
Esco1 T C 18: 10,594,263 (GRCm39) E341G probably damaging Het
Ezh2 G A 6: 47,517,715 (GRCm39) R574* probably null Het
Fam169a G T 13: 97,246,522 (GRCm39) probably benign Het
Fry T C 5: 150,304,274 (GRCm39) Y555H probably damaging Het
Gm17175 A C 14: 51,809,065 (GRCm39) S100R probably damaging Het
Gm527 T C 12: 64,967,931 (GRCm39) Y118H probably damaging Het
H2-M10.4 G T 17: 36,772,142 (GRCm39) T202N probably damaging Het
Ift70a1 C T 2: 75,810,851 (GRCm39) A411T probably benign Het
Igf1 A T 10: 87,700,683 (GRCm39) T36S probably damaging Het
Ints8 C T 4: 11,231,702 (GRCm39) V428I probably benign Het
Itga6 G A 2: 71,671,673 (GRCm39) probably null Het
Jmjd1c A G 10: 67,061,277 (GRCm39) E1210G possibly damaging Het
Kdm2a A T 19: 4,406,792 (GRCm39) V134E probably damaging Het
Limch1 C A 5: 67,191,537 (GRCm39) N947K possibly damaging Het
Met T C 6: 17,562,272 (GRCm39) probably benign Het
Neb A G 2: 52,106,376 (GRCm39) probably benign Het
Ogg1 A G 6: 113,310,375 (GRCm39) I274V possibly damaging Het
Ola1 A T 2: 72,987,197 (GRCm39) I145K probably benign Het
Or2r11 G A 6: 42,437,464 (GRCm39) T163I possibly damaging Het
Pacrg A G 17: 10,795,462 (GRCm39) V166A possibly damaging Het
Pira2 T A 7: 3,845,604 (GRCm39) E260V probably damaging Het
Prickle3 T C X: 7,531,526 (GRCm39) C277R probably damaging Het
Psen1 A G 12: 83,761,638 (GRCm39) T147A probably damaging Het
Pxk C T 14: 8,151,014 (GRCm38) probably benign Het
Scn11a G A 9: 119,648,913 (GRCm39) P50L probably benign Het
Scn4a C A 11: 106,236,418 (GRCm39) V281L probably benign Het
Shcbp1 A G 8: 4,789,166 (GRCm39) I551T probably benign Het
Snx13 T A 12: 35,150,539 (GRCm39) I281N probably benign Het
Spata31e4 T A 13: 50,856,388 (GRCm39) S675R probably benign Het
Spopfm1 C A 3: 94,173,762 (GRCm39) H257N probably benign Het
Tdo2 T C 3: 81,874,336 (GRCm39) K209E probably benign Het
Ubqln1 T A 13: 58,328,672 (GRCm39) E426D probably damaging Het
Zfp607b C A 7: 27,393,020 (GRCm39) N49K possibly damaging Het
Other mutations in Trip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Trip6 APN 5 137,311,675 (GRCm39) missense probably benign 0.02
IGL02330:Trip6 APN 5 137,311,620 (GRCm39) missense probably benign 0.01
IGL02471:Trip6 APN 5 137,308,618 (GRCm39) missense probably benign 0.45
R0058:Trip6 UTSW 5 137,309,107 (GRCm39) unclassified probably benign
R0139:Trip6 UTSW 5 137,310,436 (GRCm39) missense probably benign 0.01
R0270:Trip6 UTSW 5 137,311,103 (GRCm39) missense probably benign
R0464:Trip6 UTSW 5 137,311,943 (GRCm39) missense probably damaging 1.00
R0735:Trip6 UTSW 5 137,309,083 (GRCm39) missense probably benign 0.07
R1169:Trip6 UTSW 5 137,310,182 (GRCm39) missense probably benign 0.09
R3917:Trip6 UTSW 5 137,311,941 (GRCm39) missense probably benign 0.40
R4774:Trip6 UTSW 5 137,308,433 (GRCm39) missense probably damaging 1.00
R5177:Trip6 UTSW 5 137,310,434 (GRCm39) missense probably damaging 1.00
R7008:Trip6 UTSW 5 137,311,228 (GRCm39) missense probably damaging 1.00
R9558:Trip6 UTSW 5 137,309,075 (GRCm39) missense probably benign 0.40
Posted On 2016-08-02