Incidental Mutation 'R4162:Trav3-1'
ID 321580
Institutional Source Beutler Lab
Gene Symbol Trav3-1
Ensembl Gene ENSMUSG00000076760
Gene Name T cell receptor alpha variable 3-1
Synonyms
MMRRC Submission 041005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4162 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52818219-52818670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52818496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 57 (Y57H)
Ref Sequence ENSEMBL: ENSMUSP00000100346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103569]
AlphaFold Q5R1I8
Predicted Effect probably damaging
Transcript: ENSMUST00000103569
AA Change: Y57H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100346
Gene: ENSMUSG00000076760
AA Change: Y57H

DomainStartEndE-ValueType
IGv 39 113 6.02e-7 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 93% (38/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T A 10: 83,342,518 (GRCm39) I431F possibly damaging Het
Atrn A G 2: 130,836,148 (GRCm39) probably benign Het
Cep57 C T 9: 13,723,929 (GRCm39) probably null Het
Cgas G A 9: 78,341,686 (GRCm39) R364C probably damaging Het
Cybc1 T C 11: 121,115,492 (GRCm39) D109G probably damaging Het
Defb41 C T 1: 18,330,821 (GRCm39) C42Y probably damaging Het
Dnah3 C T 7: 119,522,061 (GRCm39) G4033D probably damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Gli3 G T 13: 15,899,700 (GRCm39) S1029I possibly damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5592 A G 7: 40,867,202 (GRCm39) probably benign Het
Grin2d T C 7: 45,507,042 (GRCm39) K478E probably damaging Het
Il18 T C 9: 50,490,712 (GRCm39) S116P probably damaging Het
Itsn1 C A 16: 91,649,790 (GRCm39) P155T probably benign Het
Kdm5b C T 1: 134,552,899 (GRCm39) P1292S probably benign Het
Mef2b T C 8: 70,618,961 (GRCm39) F181S probably damaging Het
Mfn1 T C 3: 32,617,147 (GRCm39) probably benign Het
Mfsd12 A G 10: 81,196,931 (GRCm39) probably null Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Nrxn2 G A 19: 6,582,173 (GRCm39) V660I probably damaging Het
Nsun4 G T 4: 115,891,391 (GRCm39) Y329* probably null Het
Pank4 T C 4: 155,064,051 (GRCm39) probably null Het
Plcb2 T A 2: 118,540,068 (GRCm39) E1075V probably damaging Het
Prep G T 10: 44,943,458 (GRCm39) R11L possibly damaging Het
Prkcd A G 14: 30,323,154 (GRCm39) F461L probably damaging Het
Saxo5 C T 8: 3,529,067 (GRCm39) P214L probably damaging Het
Snx21 T C 2: 164,628,770 (GRCm39) Y138H probably damaging Het
Spout1 C T 2: 30,067,589 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,586 (GRCm39) S2378P probably damaging Het
Thap12 C T 7: 98,359,285 (GRCm39) probably benign Het
Ttc39c A G 18: 12,857,994 (GRCm39) probably null Het
Tubgcp3 C T 8: 12,689,547 (GRCm39) R573Q possibly damaging Het
Ush2a A C 1: 188,475,877 (GRCm39) K2938T probably benign Het
Vasp A T 7: 18,993,397 (GRCm39) probably null Het
Zfhx3 C A 8: 109,683,619 (GRCm39) T3686K unknown Het
Other mutations in Trav3-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01682:Trav3-1 APN 14 52,818,649 (GRCm39) missense probably benign 0.09
IGL02628:Trav3-1 APN 14 52,818,551 (GRCm39) missense probably benign 0.01
R2857:Trav3-1 UTSW 14 52,818,515 (GRCm39) missense probably benign 0.07
R4674:Trav3-1 UTSW 14 52,818,460 (GRCm39) missense possibly damaging 0.66
R5475:Trav3-1 UTSW 14 52,818,494 (GRCm39) missense probably damaging 1.00
R5944:Trav3-1 UTSW 14 52,818,449 (GRCm39) missense probably benign 0.00
R6472:Trav3-1 UTSW 14 52,818,507 (GRCm39) missense possibly damaging 0.50
R6851:Trav3-1 UTSW 14 52,818,428 (GRCm39) missense probably damaging 1.00
R7788:Trav3-1 UTSW 14 52,818,581 (GRCm39) missense probably damaging 1.00
R7895:Trav3-1 UTSW 14 52,818,550 (GRCm39) missense probably benign 0.02
R8550:Trav3-1 UTSW 14 52,818,390 (GRCm39) missense probably benign 0.04
R8773:Trav3-1 UTSW 14 52,818,428 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGAGATAATCAGACTGGACTTC -3'
(R):5'- CTGACTGCGCAGAAGTACAC -3'

Sequencing Primer
(F):5'- CTAGATTGCCTGAAATCACTGTAGGG -3'
(R):5'- CAGAAGTACACGGCTGAGTCC -3'
Posted On 2015-06-12