Incidental Mutation 'IGL02940:Trav12-1'
ID364455
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 #IGL02940
Quality Score
Status
Chromosome14
Chromosomal Location53538266-53538738 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 53538560 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 57 (W57R)
Ref Sequence ENSEMBL: ENSMUSP00000143545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103650] [ENSMUST00000200115]
Predicted Effect probably damaging
Transcript: ENSMUST00000103650
AA Change: W56R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100427
Gene: ENSMUSG00000096825
AA Change: W56R

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: W57R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143545
Gene: ENSMUSG00000096825
AA Change: W57R

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 T A 8: 95,033,456 V101D possibly damaging Het
Brca1 T C 11: 101,489,912 D1765G probably benign Het
Cadps2 T C 6: 23,496,809 K450R probably benign Het
Cc2d2a A T 5: 43,728,294 probably null Het
Dbh A G 2: 27,168,309 Y163C probably damaging Het
Drc7 T A 8: 95,074,297 I649N probably damaging Het
Dst G A 1: 34,289,587 A7097T probably benign Het
Fbxo46 A G 7: 19,135,612 H52R probably benign Het
Gm10451 A C 12: 76,451,170 noncoding transcript Het
Gm9944 T C 4: 144,453,139 probably benign Het
Lsm14a G T 7: 34,371,171 S100* probably null Het
Mrc2 C T 11: 105,341,171 R850C probably damaging Het
Musk A G 4: 58,373,364 D763G probably damaging Het
Ncan C T 8: 70,110,085 V508I probably benign Het
Olfr1277 A T 2: 111,269,728 L213Q probably damaging Het
Pgls C T 8: 71,594,097 S18L probably damaging Het
Phf20l1 A G 15: 66,595,151 T98A probably damaging Het
Prdm13 T A 4: 21,683,421 K180* probably null Het
Rai1 T C 11: 60,187,018 V636A probably benign Het
Setd5 T C 6: 113,114,938 F240S possibly damaging Het
Slco1a5 A G 6: 142,242,005 L536P probably damaging Het
Stk39 C T 2: 68,220,899 probably null Het
Tenm2 T C 11: 36,041,644 T1707A probably damaging Het
Tlr2 A T 3: 83,836,474 D767E probably benign Het
Tlr7 C T X: 167,307,834 V219I probably benign Het
Tmprss7 A G 16: 45,656,455 S815P probably damaging Het
Uxt T C X: 20,959,786 E66G possibly damaging Het
Vmn2r45 A T 7: 8,472,370 M553K probably damaging Het
Vmn2r67 A G 7: 85,136,743 W685R probably benign Het
Vstm5 A C 9: 15,257,666 D144A probably damaging Het
Zfp592 A G 7: 81,024,827 H513R probably damaging Het
Zfp830 T A 11: 82,765,469 probably benign Het
Zfp990 A G 4: 145,534,922 probably null 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
IGL02950:Trav12-1 APN 14 53538567 missense probably damaging 1.00
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