Incidental Mutation 'IGL02950:Trav12-1'
ID364901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav12-1
Ensembl Gene ENSMUSG00000096825
Gene NameT cell receptor alpha variable 12-1
SynonymsGm17011
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02950
Quality Score
Status
Chromosome14
Chromosomal Location53538266-53538738 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 53538567 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 59 (V59E)
Ref Sequence ENSEMBL: ENSMUSP00000143545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103650] [ENSMUST00000200115]
Predicted Effect probably damaging
Transcript: ENSMUST00000103650
AA Change: V58E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100427
Gene: ENSMUSG00000096825
AA Change: V58E

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:V-set 21 114 3.8e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200115
AA Change: V59E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143545
Gene: ENSMUSG00000096825
AA Change: V59E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:V-set 27 115 5.8e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,825,967 S1129C possibly damaging Het
Afm A T 5: 90,531,607 D320V probably damaging Het
Ap5m1 C T 14: 49,073,935 T154I probably benign Het
Bcl11b G A 12: 107,989,806 T28I probably benign Het
Bhlhe40 G T 6: 108,664,542 C149F probably damaging Het
Bmper A T 9: 23,399,494 D408V probably damaging Het
C1rl G A 6: 124,508,861 C397Y probably damaging Het
C2cd4c A G 10: 79,612,831 S161P probably damaging Het
C87977 A G 4: 144,212,961 V2A probably benign Het
Cep290 T C 10: 100,540,329 probably benign Het
Cp T C 3: 19,988,001 Y978H probably damaging Het
Csf2ra T C 19: 61,227,169 D37G probably benign Het
Ddx24 A G 12: 103,417,542 V596A probably damaging Het
Dnmt3l A G 10: 78,050,951 S82G probably benign Het
Dock1 A G 7: 134,730,024 Y46C probably damaging Het
Eno2 A T 6: 124,763,118 D318E probably damaging Het
Gm43738 A C 3: 89,089,048 L120R probably damaging Het
Hgsnat C A 8: 25,971,701 C29F probably damaging Het
Hltf T A 3: 20,076,572 V318D probably benign Het
Kcnh8 A G 17: 52,956,767 H764R probably benign Het
Kcnq3 A G 15: 66,020,293 F411S probably benign Het
Lpcat4 C A 2: 112,244,042 N287K possibly damaging Het
Ltbp4 A C 7: 27,306,718 F1512V probably damaging Het
Mctp1 A T 13: 77,024,810 L868F probably damaging Het
Mdn1 T C 4: 32,713,360 probably benign Het
Olfr1000 A T 2: 85,608,157 L251Q possibly damaging Het
Otub2 A G 12: 103,403,373 D237G probably damaging Het
Pax3 A G 1: 78,103,360 V463A probably benign Het
Podn T C 4: 108,017,851 K573R possibly damaging Het
Ppp5c A C 7: 17,006,910 S378A probably benign Het
Prl2a1 T A 13: 27,804,931 L13Q probably damaging Het
Ptgir A G 7: 16,907,601 T70A probably damaging Het
Ralyl C A 3: 14,039,721 N15K probably damaging Het
Rbck1 C T 2: 152,331,077 R17Q possibly damaging Het
Ryr1 A G 7: 29,097,459 Y973H probably damaging Het
Sh2d6 A G 6: 72,515,302 V260A probably damaging Het
Spen G A 4: 141,469,508 P3559S probably damaging Het
Tbcd T A 11: 121,603,709 V1032D probably damaging Het
Tmem2 A T 19: 21,842,200 K1118N probably benign Het
Unc93a T A 17: 13,125,568 Q29L probably damaging Het
Zzef1 A G 11: 72,917,699 probably benign Het
Other mutations in Trav12-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02537:Trav12-1 APN 14 53538523 nonsense probably null
IGL02613:Trav12-1 APN 14 53538285 missense possibly damaging 0.53
IGL02821:Trav12-1 APN 14 53538459 missense probably damaging 1.00
IGL02940:Trav12-1 APN 14 53538560 missense probably damaging 1.00
Variegated UTSW 14 53538531 missense possibly damaging 0.90
R5469:Trav12-1 UTSW 14 53538473 missense probably damaging 0.97
R7384:Trav12-1 UTSW 14 53538536 missense probably benign 0.01
R7804:Trav12-1 UTSW 14 53538531 missense possibly damaging 0.90
Posted On2015-12-18