Incidental Mutation 'IGL01099:Trav6-2'
ID52675
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: 0.068) question?
Stock #IGL01099
Quality Score
Status
Chromosome14
Chromosomal Location52667411-52667864 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 52667665 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 48 (T48S)
Ref Sequence ENSEMBL: ENSMUSP00000142452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103573] [ENSMUST00000198058]
Predicted Effect probably benign
Transcript: ENSMUST00000103573
AA Change: T47S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000100350
Gene: ENSMUSG00000076764
AA Change: T47S

DomainStartEndE-ValueType
Pfam:V-set 20 112 1.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198058
AA Change: T48S

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142452
Gene: ENSMUSG00000076764
AA Change: T48S

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,109,360 H143L probably benign Het
Abca8a G A 11: 110,074,205 probably benign Het
Adam28 A G 14: 68,637,329 probably null Het
Adcy10 A G 1: 165,539,842 I560M probably benign Het
Alpl G A 4: 137,743,313 probably benign Het
Ank1 G A 8: 23,108,249 G753D probably damaging Het
Arhgef28 A T 13: 97,953,972 probably benign Het
Bmp7 A T 2: 172,875,262 C329S probably damaging Het
Capn13 T C 17: 73,351,509 D188G probably damaging Het
Car10 G A 11: 93,578,690 E164K possibly damaging Het
Cfhr1 T A 1: 139,547,759 probably benign Het
Col11a1 C T 3: 114,112,041 R562* probably null Het
Colec12 C T 18: 9,848,826 R335C probably damaging Het
Cyb561d2 C T 9: 107,540,289 probably null Het
D430042O09Rik T A 7: 125,865,320 H1286Q probably damaging Het
Epb41l3 A G 17: 69,210,193 D72G possibly damaging Het
Etl4 T C 2: 20,807,111 L1335P probably benign Het
F5 T G 1: 164,194,334 N1459K probably damaging Het
Fam161a T C 11: 23,015,894 probably benign Het
Flnc G A 6: 29,433,618 V54M probably damaging Het
Fndc3b T C 3: 27,463,817 I607V probably benign Het
Fscb A G 12: 64,472,101 S864P unknown Het
Glod4 T A 11: 76,239,550 K36* probably null Het
Gm6619 G A 6: 131,490,430 R86Q possibly damaging Het
Gm7052 T C 17: 22,039,725 probably benign Het
Gyg A T 3: 20,151,047 M119K probably benign Het
Ifit2 A T 19: 34,573,302 I81F probably damaging Het
Insr T C 8: 3,258,682 Y118C probably damaging Het
Kcnh3 T C 15: 99,239,736 S771P probably benign Het
Kndc1 C A 7: 139,920,784 H688Q probably damaging Het
Mybpc2 A G 7: 44,516,167 C330R probably damaging Het
Naa50 A T 16: 44,156,469 N23I probably damaging Het
Olfr544 T A 7: 102,484,478 D214V probably damaging Het
Olfr76 A G 19: 12,119,876 S279P probably damaging Het
Olfr894 T C 9: 38,219,743 S307P probably benign Het
Olfr912 T C 9: 38,582,077 S267P probably benign Het
Pfkp A T 13: 6,603,390 probably benign Het
Phlda2 G A 7: 143,502,139 probably null Het
Plxnd1 C A 6: 115,969,945 V823L probably benign Het
Ppil2 T A 16: 17,091,212 M368L probably damaging Het
Prpf40a T A 2: 53,141,835 H794L probably benign Het
Ripor2 A T 13: 24,701,207 H436L probably benign Het
Rnf138 T A 18: 21,020,913 C159S possibly damaging Het
Scn7a A T 2: 66,684,238 V1064D probably damaging Het
Slc12a2 T A 18: 57,906,020 C557* probably null Het
Slc1a6 T C 10: 78,788,997 S79P possibly damaging Het
Snapin G A 3: 90,490,602 probably benign Het
Tdp1 A T 12: 99,915,445 probably benign Het
Tigar G T 6: 127,088,145 A180E probably benign Het
Ttn A G 2: 76,728,432 Y29702H probably damaging Het
Ush1c A G 7: 46,205,262 S689P probably damaging Het
Vmn1r40 A T 6: 89,714,596 I132F probably damaging Het
Vmn1r85 T A 7: 13,084,534 K228* probably null Het
Wdr33 C A 18: 31,906,789 probably benign Het
Ybx2 A T 11: 69,940,730 Q136L probably damaging Het
Other mutations in Trav6-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Trav6-2 APN 14 52667432 missense possibly damaging 0.63
IGL02488:Trav6-2 APN 14 52667786 missense probably benign 0.23
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 On2013-06-21