Incidental Mutation 'R2445:Trav6d-3'
ID 476386
Institutional Source Beutler Lab
Gene Symbol Trav6d-3
Ensembl Gene ENSMUSG00000096600
Gene Name T cell receptor alpha variable 6D-3
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock # R2445 (G1)
Quality Score 179
Status Not validated
Chromosome 14
Chromosomal Location 52725299-52726917 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52726828 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 83 (A83T)
Ref Sequence ENSEMBL: ENSMUSP00000137760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000181483] [ENSMUST00000184883]
AlphaFold A0A075B6D3
Predicted Effect probably damaging
Transcript: ENSMUST00000181483
AA Change: A83T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137760
Gene: ENSMUSG00000096600
AA Change: A83T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:V-set 21 112 2.9e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184883
AA Change: A73T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139137
Gene: ENSMUSG00000096600
AA Change: A73T

DomainStartEndE-ValueType
Pfam:V-set 11 102 3.8e-13 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
4930562C15Rik T A 16: 4,864,397 probably null Het
Akr1b3 G T 6: 34,310,934 D163E probably benign Het
D130043K22Rik A G 13: 24,857,036 D147G probably benign Het
F5 T C 1: 164,190,226 F624S probably damaging Het
Gpr182 T C 10: 127,750,627 T152A probably benign Het
Ifna13 A T 4: 88,643,896 W164R probably damaging Het
Lsg1 C A 16: 30,564,695 R569L probably benign Het
Mmp27 T C 9: 7,581,181 S456P probably benign Het
Naip6 A G 13: 100,300,668 V449A probably damaging Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr1130 T C 2: 87,607,958 I190T probably damaging Het
Ptpn23 G T 9: 110,387,632 P1052Q possibly damaging Het
Sacs A G 14: 61,205,206 H1567R probably damaging Het
Slc30a7 A T 3: 115,978,653 I280K probably damaging Het
Slc6a18 A T 13: 73,666,752 C15* probably null Het
Tnrc18 T A 5: 142,772,115 I884F unknown Het
Zgpat C A 2: 181,366,160 C163* probably null Het
Other mutations in Trav6d-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
teed_off UTSW 14 52725342 missense probably damaging 1.00
R4173:Trav6d-3 UTSW 14 52725349 missense probably benign 0.00
R7215:Trav6d-3 UTSW 14 52725342 missense probably damaging 1.00
R9132:Trav6d-3 UTSW 14 52726753 missense possibly damaging 0.64
R9599:Trav6d-3 UTSW 14 52726687 missense probably benign 0.35
Predicted Primers
Posted On 2017-05-11