Incidental Mutation 'IGL02613:Trav12-1'
ID300541
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 #IGL02613
Quality Score
Status
Chromosome14
Chromosomal Location53538266-53538738 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 53538285 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 9 (S9L)
Ref Sequence ENSEMBL: ENSMUSP00000143545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103650] [ENSMUST00000200115]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103650
AA Change: S9L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100427
Gene: ENSMUSG00000096825
AA Change: S9L

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:V-set 21 114 3.8e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000200115
AA Change: S9L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143545
Gene: ENSMUSG00000096825
AA Change: S9L

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,783,984 I549L possibly damaging Het
Arhgef17 A T 7: 100,928,896 H948Q probably damaging Het
Auh A G 13: 52,918,999 probably null Het
Btf3 A G 13: 98,310,206 probably benign Het
Capg A G 6: 72,555,611 N53S probably damaging Het
Cfap70 T C 14: 20,409,064 probably null Het
Chrna5 A T 9: 55,006,421 E417V probably damaging Het
Coch A G 12: 51,595,349 T35A possibly damaging Het
Dock4 T A 12: 40,810,466 L1284M probably damaging Het
Etv3 A G 3: 87,536,395 T429A possibly damaging Het
Fmnl2 T C 2: 53,073,735 probably null Het
Glb1 A G 9: 114,464,062 T502A possibly damaging Het
Greb1 C A 12: 16,739,888 probably null Het
Hspg2 A G 4: 137,544,420 Y2499C probably damaging Het
Kcnq1 A T 7: 143,426,126 probably benign Het
Lrriq1 A G 10: 103,144,548 S1497P probably damaging Het
Magel2 G A 7: 62,380,198 R950H unknown Het
Mcc A G 18: 44,429,954 L982P probably damaging Het
Naif1 T A 2: 32,455,160 M292K possibly damaging Het
Npb T A 11: 120,608,890 C99S probably damaging Het
Obscn G T 11: 59,002,132 R6763S probably benign Het
Olfr477 C T 7: 107,991,174 Q270* probably null Het
Olfr532 A G 7: 140,419,470 V101A probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pitpnm3 A T 11: 72,058,072 S736T probably damaging Het
Polr1a A T 6: 71,967,320 E1257V probably damaging Het
Sec63 G A 10: 42,801,707 D270N probably damaging Het
Snrnp200 C T 2: 127,218,426 T530I probably damaging Het
Sorbs1 A T 19: 40,327,547 N383K probably damaging Het
Syk G A 13: 52,643,040 G546R probably damaging Het
Tfap2d T A 1: 19,119,191 L265Q probably damaging Het
Trerf1 T C 17: 47,348,840 noncoding transcript Het
Ttn T A 2: 76,728,360 I29726L possibly damaging Het
Usp18 A G 6: 121,261,090 T143A probably benign Het
Usp32 A T 11: 85,040,070 N511K probably damaging Het
Wdr64 C T 1: 175,767,047 Q4* probably null Het
Zfp277 A G 12: 40,329,515 F340S probably damaging Het
Other mutations in Trav12-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02537:Trav12-1 APN 14 53538523 nonsense probably null
IGL02821:Trav12-1 APN 14 53538459 missense probably damaging 1.00
IGL02940:Trav12-1 APN 14 53538560 missense probably damaging 1.00
IGL02950:Trav12-1 APN 14 53538567 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 On2015-04-16