Incidental Mutation 'IGL01406:Trav5-1'
ID 79795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav5-1
Ensembl Gene ENSMUSG00000076761
Gene Name T cell receptor alpha variable 5-1
Synonyms Trav5-1 T-cell receptor alpha chain V region 5-1, Gm7124
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01406
Quality Score
Status
Chromosome 14
Chromosomal Location 52860023-52860539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52860444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 83 (L83P)
Ref Sequence ENSEMBL: ENSMUSP00000100347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103570]
AlphaFold A0A075B5Z7
Predicted Effect probably damaging
Transcript: ENSMUST00000103570
AA Change: L83P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100347
Gene: ENSMUSG00000076761
AA Change: L83P

DomainStartEndE-ValueType
IGv 39 113 4.63e-8 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,180,212 (GRCm39) Q558* probably null Het
Adam29 A T 8: 56,324,874 (GRCm39) Y527N probably damaging Het
Atm T C 9: 53,351,046 (GRCm39) *3067W probably null Het
B3galt2 A T 1: 143,522,844 (GRCm39) I327L possibly damaging Het
Cadm2 C A 16: 66,612,192 (GRCm39) probably null Het
Cd6 G T 19: 10,768,501 (GRCm39) A496E possibly damaging Het
Cdh16 A T 8: 105,345,044 (GRCm39) I415N possibly damaging Het
Ces1b T C 8: 93,798,622 (GRCm39) N188S probably damaging Het
Col4a1 T C 8: 11,268,898 (GRCm39) D980G probably damaging Het
Dmgdh G A 13: 93,823,539 (GRCm39) probably benign Het
Emb A T 13: 117,405,466 (GRCm39) D296V probably damaging Het
Fbln2 T C 6: 91,243,374 (GRCm39) S917P probably damaging Het
Fmnl1 T C 11: 103,085,516 (GRCm39) probably benign Het
Frem2 T C 3: 53,433,317 (GRCm39) Y2669C probably damaging Het
Gm3115 T A 14: 4,087,137 (GRCm38) probably benign Het
Hnf1b C T 11: 83,779,950 (GRCm39) P402S probably benign Het
Il7r T A 15: 9,508,300 (GRCm39) R341* probably null Het
Krt75 T C 15: 101,476,460 (GRCm39) Y435C probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Musk T C 4: 58,367,539 (GRCm39) Y578H probably damaging Het
Naa20 A G 2: 145,757,726 (GRCm39) probably null Het
Ncoa7 T C 10: 30,566,836 (GRCm39) D565G probably damaging Het
Pgap1 C T 1: 54,572,573 (GRCm39) probably null Het
Plekha5 G A 6: 140,518,676 (GRCm39) R172H probably damaging Het
Snx17 A G 5: 31,353,338 (GRCm39) Y77C probably damaging Het
Spdye4b C T 5: 143,188,166 (GRCm39) P220S probably benign Het
Tbx18 T A 9: 87,595,596 (GRCm39) D326V probably damaging Het
Tlr12 A T 4: 128,510,132 (GRCm39) L706* probably null Het
Tnfrsf21 T A 17: 43,348,837 (GRCm39) C150S probably damaging Het
Togaram1 A G 12: 65,042,352 (GRCm39) D1187G possibly damaging Het
Vmn2r75 T A 7: 85,812,500 (GRCm39) probably benign Het
Other mutations in Trav5-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03351:Trav5-1 APN 14 52,860,302 (GRCm39) missense probably damaging 0.99
R6749:Trav5-1 UTSW 14 52,860,402 (GRCm39) missense possibly damaging 0.75
R8555:Trav5-1 UTSW 14 52,860,276 (GRCm39) missense probably damaging 0.98
R9258:Trav5-1 UTSW 14 52,860,347 (GRCm39) missense probably benign 0.17
R9658:Trav5-1 UTSW 14 52,860,428 (GRCm39) missense probably benign 0.11
Posted On 2013-11-05