Incidental Mutation 'IGL01406:Trav5-1'
ID79795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav5-1
Ensembl Gene ENSMUSG00000076761
Gene NameT cell receptor alpha variable 5-1
SynonymsTrav5-1 T-cell receptor alpha chain V region 5-1, Gm7124
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01406
Quality Score
Status
Chromosome14
Chromosomal Location52622566-52623082 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52622987 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 83 (L83P)
Ref Sequence ENSEMBL: ENSMUSP00000100347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103570]
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: 8,130,212 Q558* probably null Het
Adam29 A T 8: 55,871,839 Y527N probably damaging Het
Atm T C 9: 53,439,746 *3067W probably null Het
B3galt2 A T 1: 143,647,106 I327L possibly damaging Het
Cadm2 C A 16: 66,815,304 probably null Het
Cd6 G T 19: 10,791,137 A496E possibly damaging Het
Cdh16 A T 8: 104,618,412 I415N possibly damaging Het
Ces1b T C 8: 93,071,994 N188S probably damaging Het
Col4a1 T C 8: 11,218,898 D980G probably damaging Het
Dmgdh G A 13: 93,687,031 probably benign Het
Emb A T 13: 117,268,930 D296V probably damaging Het
Fbln2 T C 6: 91,266,392 S917P probably damaging Het
Fmnl1 T C 11: 103,194,690 probably benign Het
Frem2 T C 3: 53,525,896 Y2669C probably damaging Het
Gm3115 T A 14: 4,087,137 probably benign Het
Hnf1b C T 11: 83,889,124 P402S probably benign Het
Il7r T A 15: 9,508,214 R341* probably null Het
Krt75 T C 15: 101,568,025 Y435C probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Musk T C 4: 58,367,539 Y578H probably damaging Het
Naa20 A G 2: 145,915,806 probably null Het
Ncoa7 T C 10: 30,690,840 D565G probably damaging Het
Pgap1 C T 1: 54,533,414 probably null Het
Plekha5 G A 6: 140,572,950 R172H probably damaging Het
Snx17 A G 5: 31,195,994 Y77C probably damaging Het
Spdye4b C T 5: 143,202,411 P220S probably benign Het
Tbx18 T A 9: 87,713,543 D326V probably damaging Het
Tlr12 A T 4: 128,616,339 L706* probably null Het
Tnfrsf21 T A 17: 43,037,946 C150S probably damaging Het
Togaram1 A G 12: 64,995,578 D1187G possibly damaging Het
Vmn2r75 T A 7: 86,163,292 probably benign Het
Other mutations in Trav5-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03351:Trav5-1 APN 14 52622845 missense probably damaging 0.99
R6749:Trav5-1 UTSW 14 52622945 missense possibly damaging 0.75
Posted On2013-11-05