Incidental Mutation 'IGL02488:Trav6-2'
ID295499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav6-2
Ensembl Gene ENSMUSG00000076764
Gene NameT cell receptor alpha variable 6-2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02488
Quality Score
Status
Chromosome14
Chromosomal Location52667411-52667864 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52667786 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 88 (K88R)
Ref Sequence ENSEMBL: ENSMUSP00000142452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103573] [ENSMUST00000198058]
Predicted Effect probably benign
Transcript: ENSMUST00000103573
AA Change: K87R

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100350
Gene: ENSMUSG00000076764
AA Change: K87R

DomainStartEndE-ValueType
Pfam:V-set 20 112 1.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198058
AA Change: K88R

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142452
Gene: ENSMUSG00000076764
AA Change: K88R

DomainStartEndE-ValueType
Pfam:V-set 21 113 1.7e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Trav6-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Trav6-2 APN 14 52667665 missense probably benign 0.05
IGL02207:Trav6-2 APN 14 52667432 missense possibly damaging 0.63
R4095:Trav6-2 UTSW 14 52667815 missense probably benign 0.03
R5268:Trav6-2 UTSW 14 52667748 missense probably benign 0.00
R7095:Trav6-2 UTSW 14 52667834 missense probably damaging 1.00
R7643:Trav6-2 UTSW 14 52667442 missense probably benign 0.17
R8093:Trav6-2 UTSW 14 52667669 missense probably benign 0.07
Posted On2015-04-16