Incidental Mutation 'IGL02458:Trav6-1'
ID 294472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav6-1
Ensembl Gene ENSMUSG00000076762
Gene Name T cell receptor alpha variable 6-1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL02458
Quality Score
Status
Chromosome 14
Chromosomal Location 52875972-52876419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52876199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 40 (I40V)
Ref Sequence ENSEMBL: ENSMUSP00000100348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103571]
AlphaFold A0A075B5Z8
Predicted Effect probably benign
Transcript: ENSMUST00000103571
AA Change: I40V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000100348
Gene: ENSMUSG00000076762
AA Change: I40V

DomainStartEndE-ValueType
Pfam:V-set 20 112 6.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198116
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,206,844 (GRCm39) I37L probably benign Het
Alpk1 A G 3: 127,474,968 (GRCm39) probably null Het
Ankrd33 T C 15: 101,014,488 (GRCm39) F8L probably damaging Het
Avil A G 10: 126,852,222 (GRCm39) K669R probably benign Het
Bcor G T X: 11,914,749 (GRCm39) L1165I probably damaging Het
C7 A G 15: 5,088,871 (GRCm39) probably benign Het
Cc2d2a A G 5: 43,875,896 (GRCm39) I958V probably benign Het
Cenpe A T 3: 134,935,869 (GRCm39) K435* probably null Het
Chrna7 G A 7: 62,755,842 (GRCm39) L235F probably damaging Het
Col6a3 C A 1: 90,706,919 (GRCm39) V2065L unknown Het
Copb1 A T 7: 113,846,020 (GRCm39) N183K probably benign Het
Cpn2 G A 16: 30,079,653 (GRCm39) A16V probably benign Het
Cul1 A G 6: 47,502,542 (GRCm39) K769E possibly damaging Het
Deup1 C T 9: 15,503,656 (GRCm39) V302M probably benign Het
Dnah17 T C 11: 117,927,176 (GRCm39) K3871E probably damaging Het
Dnah6 A G 6: 73,004,431 (GRCm39) V3844A probably benign Het
Dnah7a A T 1: 53,657,487 (GRCm39) L763* probably null Het
Donson A T 16: 91,478,064 (GRCm39) W461R probably damaging Het
Dpp10 T C 1: 123,269,418 (GRCm39) I664V probably benign Het
Dusp8 T A 7: 141,636,484 (GRCm39) T369S probably benign Het
Dync2h1 A T 9: 7,117,422 (GRCm39) L56Q probably damaging Het
Ecd A T 14: 20,374,545 (GRCm39) S532T probably benign Het
Frg2f1 G A 4: 119,388,154 (GRCm39) T115I probably damaging Het
Gpatch2l A G 12: 86,335,735 (GRCm39) probably benign Het
Gtf3c2 T A 5: 31,316,867 (GRCm39) probably null Het
Haghl T C 17: 26,002,470 (GRCm39) probably benign Het
Hoxc8 A T 15: 102,901,181 (GRCm39) N208I probably damaging Het
Igf2 T C 7: 142,207,785 (GRCm39) D115G probably benign Het
Jag2 T A 12: 112,879,613 (GRCm39) D385V probably damaging Het
Laptm4b A G 15: 34,258,888 (GRCm39) H54R probably benign Het
Lrp2 A G 2: 69,352,117 (GRCm39) S640P probably damaging Het
Map3k8 A C 18: 4,334,660 (GRCm39) V328G probably damaging Het
Mfsd13a A G 19: 46,360,686 (GRCm39) E388G probably damaging Het
Ms4a13 G A 19: 11,149,292 (GRCm39) T168I probably benign Het
Mtg1 C A 7: 139,730,085 (GRCm39) Q294K probably benign Het
Myh3 C T 11: 66,987,766 (GRCm39) A1413V possibly damaging Het
Neo1 A T 9: 58,801,150 (GRCm39) probably benign Het
Ogfod3 T C 11: 121,091,749 (GRCm39) E119G probably benign Het
Or10ak9 A G 4: 118,726,497 (GRCm39) N173S possibly damaging Het
Or2t49 A T 11: 58,393,073 (GRCm39) M109K probably benign Het
Or4a77 A G 2: 89,487,692 (GRCm39) L31P probably damaging Het
Or5ak20 G A 2: 85,184,006 (GRCm39) T88I probably benign Het
Or6c210 A T 10: 129,496,475 (GRCm39) I267F probably benign Het
Parvb G T 15: 84,187,635 (GRCm39) D248Y probably damaging Het
Pcdh11x A T X: 119,310,315 (GRCm39) H586L possibly damaging Het
Phactr2 T C 10: 13,137,572 (GRCm39) E120G probably damaging Het
Ppfibp2 A T 7: 107,342,171 (GRCm39) Q775L probably damaging Het
Rcbtb1 A G 14: 59,467,443 (GRCm39) Y427C probably damaging Het
Rftn2 A T 1: 55,250,351 (GRCm39) C131* probably null Het
Rigi A G 4: 40,229,536 (GRCm39) S83P probably damaging Het
Rps6ka2 A G 17: 7,556,402 (GRCm39) D474G probably benign Het
Rsbn1l T C 5: 21,156,734 (GRCm39) E17G probably damaging Het
Ryr2 T C 13: 11,720,585 (GRCm39) M2688V probably benign Het
Slc22a18 C A 7: 143,046,574 (GRCm39) probably benign Het
Smarcc1 A G 9: 109,961,194 (GRCm39) probably benign Het
Soat2 T C 15: 102,070,550 (GRCm39) V451A probably damaging Het
Sptlc2 A T 12: 87,356,667 (GRCm39) probably benign Het
Tada1 C T 1: 166,220,203 (GRCm39) L308F probably damaging Het
Tango2 A T 16: 18,128,731 (GRCm39) probably null Het
Tbc1d15 A T 10: 115,065,111 (GRCm39) V158D probably damaging Het
Tmx2 A T 2: 84,503,588 (GRCm39) probably benign Het
Tpte T A 8: 22,795,874 (GRCm39) I79K probably benign Het
Trgv3 A G 13: 19,427,423 (GRCm39) Y102C probably damaging Het
Ubash3a T C 17: 31,450,455 (GRCm39) S377P possibly damaging Het
Vmn2r7 T C 3: 64,600,446 (GRCm39) D575G probably damaging Het
Vps41 A G 13: 19,037,649 (GRCm39) D704G possibly damaging Het
Vwa5a T C 9: 38,638,259 (GRCm39) S261P possibly damaging Het
Zc3hav1 A G 6: 38,317,264 (GRCm39) V112A probably damaging Het
Other mutations in Trav6-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1381:Trav6-1 UTSW 14 52,875,967 (GRCm39) unclassified probably benign
R3949:Trav6-1 UTSW 14 52,875,993 (GRCm39) missense probably benign 0.28
R4190:Trav6-1 UTSW 14 52,875,976 (GRCm39) missense probably benign 0.01
R5212:Trav6-1 UTSW 14 52,876,161 (GRCm39) missense probably benign 0.06
R5965:Trav6-1 UTSW 14 52,876,254 (GRCm39) missense probably damaging 0.97
R6323:Trav6-1 UTSW 14 52,876,248 (GRCm39) missense possibly damaging 0.90
R7488:Trav6-1 UTSW 14 52,875,972 (GRCm39) start codon destroyed possibly damaging 0.46
R8733:Trav6-1 UTSW 14 52,876,213 (GRCm39) nonsense probably null
R9102:Trav6-1 UTSW 14 52,876,008 (GRCm39) missense probably benign
R9293:Trav6-1 UTSW 14 52,876,299 (GRCm39) missense probably benign 0.21
Posted On 2015-04-16