Incidental Mutation 'IGL02962:Trav1'
ID 365400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav1
Ensembl Gene ENSMUSG00000076758
Gene Name T cell receptor alpha variable 1
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02962
Quality Score
Status
Chromosome 14
Chromosomal Location 52665424-52666333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52666099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000140728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103567] [ENSMUST00000185651]
AlphaFold A0A087WRQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000103567
AA Change: E33G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100344
Gene: ENSMUSG00000076758
AA Change: E33G

DomainStartEndE-ValueType
IGv 36 109 5.04e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185651
AA Change: E32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140728
Gene: ENSMUSG00000076758
AA Change: E32G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 35 108 2.1e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,446,455 (GRCm39) probably null Het
9530068E07Rik T C 11: 52,294,362 (GRCm39) V209A possibly damaging Het
Abca3 T A 17: 24,619,383 (GRCm39) V907E probably damaging Het
Acvrl1 T C 15: 101,033,382 (GRCm39) Y90H probably benign Het
Aff3 T C 1: 38,574,737 (GRCm39) D81G probably damaging Het
Amn G T 12: 111,240,951 (GRCm39) V152L probably damaging Het
Arhgap44 A G 11: 64,957,987 (GRCm39) probably benign Het
Atad5 T A 11: 79,999,405 (GRCm39) V895D possibly damaging Het
Card9 T G 2: 26,248,029 (GRCm39) probably null Het
Ccer1 T C 10: 97,529,702 (GRCm39) S122P unknown Het
Ccr2 A G 9: 123,905,712 (GRCm39) probably benign Het
Dsg1a T A 18: 20,473,381 (GRCm39) I818N possibly damaging Het
Ear10 G T 14: 44,160,774 (GRCm39) L18I probably damaging Het
Mertk A G 2: 128,619,374 (GRCm39) Y544C probably damaging Het
Miga1 A T 3: 151,990,978 (GRCm39) probably benign Het
Myo18a T C 11: 77,669,061 (GRCm39) V307A probably damaging Het
Or5p64 A T 7: 107,854,910 (GRCm39) I145N possibly damaging Het
Or7a38 T A 10: 78,752,773 (GRCm39) L33H probably damaging Het
Pou2f3 T C 9: 43,036,384 (GRCm39) probably benign Het
Pramel23 T A 4: 143,423,910 (GRCm39) E293V probably benign Het
Prickle2 A C 6: 92,353,403 (GRCm39) S744A probably benign Het
Prkcb T A 7: 122,024,270 (GRCm39) probably null Het
Prkd2 A G 7: 16,603,757 (GRCm39) T813A probably benign Het
Prkra G A 2: 76,463,891 (GRCm39) T257M probably damaging Het
Rbm18 C T 2: 36,012,886 (GRCm39) R102Q probably damaging Het
Rbsn A G 6: 92,167,307 (GRCm39) S446P probably benign Het
Rpgrip1l A T 8: 91,996,990 (GRCm39) V28D possibly damaging Het
Sdccag8 A T 1: 176,775,928 (GRCm39) K613I probably damaging Het
Serbp1 G A 6: 67,244,103 (GRCm39) G8D probably damaging Het
Slc6a2 T A 8: 93,699,390 (GRCm39) Y139* probably null Het
Slc7a2 T A 8: 41,358,621 (GRCm39) F321L probably damaging Het
Slco1b2 G A 6: 141,594,279 (GRCm39) S48N probably damaging Het
Ssbp2 G T 13: 91,790,490 (GRCm39) V118L possibly damaging Het
Sugp1 T A 8: 70,512,512 (GRCm39) probably benign Het
Taar5 C A 10: 23,846,883 (GRCm39) R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 (GRCm39) A353S probably benign Het
Trp53bp2 T C 1: 182,259,160 (GRCm39) V71A probably benign Het
Vmn2r50 T C 7: 9,784,252 (GRCm39) Y74C probably damaging Het
Wars1 A T 12: 108,841,706 (GRCm39) M147K probably damaging Het
Other mutations in Trav1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0049:Trav1 UTSW 14 52,666,155 (GRCm39) missense probably damaging 0.98
Z1177:Trav1 UTSW 14 52,666,158 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18