Incidental Mutation 'IGL01298:Trbv19'
ID73205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trbv19
Ensembl Gene ENSMUSG00000076475
Gene NameT cell receptor beta, variable 19
SynonymsTcrb-V6, Gm16780
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01298
Quality Score
Status
Chromosome6
Chromosomal Location41178375-41179048 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41178904 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 70 (Y70H)
Ref Sequence ENSEMBL: ENSMUSP00000100092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103276]
Predicted Effect probably damaging
Transcript: ENSMUST00000103276
AA Change: Y70H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100092
Gene: ENSMUSG00000076475
AA Change: Y70H

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 30 101 2.71e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194256
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,333,492 W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 N186T probably benign Het
Ank2 A G 3: 126,959,720 V304A possibly damaging Het
Atg3 T C 16: 45,171,673 M88T possibly damaging Het
Baz1a G T 12: 54,954,809 P142Q probably damaging Het
Btbd1 G T 7: 81,794,307 probably null Het
Cacnb3 T C 15: 98,639,853 Y70H probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 W19R probably damaging Het
Dock10 T A 1: 80,531,245 I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 D58Y unknown Het
Gm7168 A T 17: 13,949,858 T496S probably benign Het
Gpc5 A G 14: 115,399,188 S428G probably benign Het
Haus8 T C 8: 71,253,113 E309G probably damaging Het
Ice1 A G 13: 70,604,904 L1021P possibly damaging Het
Krtap14 A T 16: 88,825,727 H121Q probably benign Het
Nwd1 T C 8: 72,662,331 V170A probably benign Het
Olfr338 T A 2: 36,377,448 M224K probably benign Het
Olfr803 T C 10: 129,692,029 Y4C probably damaging Het
Olfr938 G A 9: 39,078,724 T7I possibly damaging Het
Pfpl T C 19: 12,428,673 M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 probably benign Het
Proc T C 18: 32,123,552 N354S probably benign Het
Prss40 T G 1: 34,560,766 I47L probably benign Het
Tmprss7 T C 16: 45,664,175 R541G probably benign Het
Togaram2 T C 17: 71,716,513 V788A possibly damaging Het
Ttk C T 9: 83,865,142 S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Other mutations in Trbv19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4961:Trbv19 UTSW 6 41178772 missense probably damaging 1.00
R5772:Trbv19 UTSW 6 41178860 missense possibly damaging 0.93
R6050:Trbv19 UTSW 6 41179010 missense probably benign 0.00
R6324:Trbv19 UTSW 6 41178758 missense probably damaging 1.00
R6519:Trbv19 UTSW 6 41178639 critical splice donor site probably benign
R7707:Trbv19 UTSW 6 41178613 missense possibly damaging 0.95
Posted On2013-10-07