Incidental Mutation 'R6543:Trav6-3'
ID 520966
Institutional Source Beutler Lab
Gene Symbol Trav6-3
Ensembl Gene ENSMUSG00000094220
Gene Name T cell receptor alpha variable 6-3
Synonyms
MMRRC Submission 044669-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6543 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 53666218-53667834 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 53666219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000137964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180549] [ENSMUST00000183604]
AlphaFold Q5R1E6
Predicted Effect probably null
Transcript: ENSMUST00000180549
AA Change: M1T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137964
Gene: ENSMUSG00000094220
AA Change: M1T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:V-set 21 112 7.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183604
SMART Domains Protein: ENSMUSP00000138968
Gene: ENSMUSG00000094220

DomainStartEndE-ValueType
Pfam:V-set 10 101 4.6e-13 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T C 2: 126,908,525 (GRCm39) V1091A probably benign Het
Arhgef11 A G 3: 87,640,715 (GRCm39) N1320D probably benign Het
Atl3 T A 19: 7,487,463 (GRCm39) F126Y probably damaging Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Cplane2 T G 4: 140,944,599 (GRCm39) V50G probably benign Het
Creld2 A G 15: 88,709,481 (GRCm39) T331A probably benign Het
Cuzd1 A G 7: 130,911,497 (GRCm39) V494A probably damaging Het
Dclk1 C T 3: 55,407,552 (GRCm39) P244S probably damaging Het
Esyt3 T C 9: 99,220,825 (GRCm39) N126S possibly damaging Het
Focad T C 4: 88,197,493 (GRCm39) S629P unknown Het
Grip1 T C 10: 119,821,499 (GRCm39) L389P probably benign Het
Igkv4-91 A T 6: 68,745,582 (GRCm39) D105E probably damaging Het
Il20ra G A 10: 19,625,071 (GRCm39) A117T probably damaging Het
Il6ra A G 3: 89,784,170 (GRCm39) V367A probably damaging Het
Itga8 C T 2: 12,306,455 (GRCm39) V47M probably damaging Het
Limk2 T C 11: 3,300,682 (GRCm39) Y220C probably damaging Het
Lims1 T A 10: 58,248,273 (GRCm39) C243* probably null Het
Man1a C A 10: 53,811,077 (GRCm39) G435* probably null Het
Msantd5f4 A G 4: 73,557,215 (GRCm39) E16G probably damaging Het
Mtor T A 4: 148,630,053 (GRCm39) I2250N probably damaging Het
N4bp1 G A 8: 87,588,534 (GRCm39) Q135* probably null Het
Nbeal2 A T 9: 110,473,526 (GRCm39) D76E probably benign Het
Nbn T C 4: 15,986,605 (GRCm39) S669P probably benign Het
Nfrkb C T 9: 31,312,281 (GRCm39) Q456* probably null Het
Or6c3b C A 10: 129,527,859 (GRCm39) G17V probably benign Het
Pcnx3 C T 19: 5,715,275 (GRCm39) A1557T probably benign Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Prokr2 T A 2: 132,215,819 (GRCm39) Q53L probably benign Het
Pxmp4 C A 2: 154,429,979 (GRCm39) A137S possibly damaging Het
Rasef C T 4: 73,698,756 (GRCm39) probably benign Het
Scpppq1 T C 5: 104,222,741 (GRCm39) probably benign Het
Scrt2 C T 2: 151,935,063 (GRCm39) A72V probably benign Het
Sipa1l2 T C 8: 126,177,101 (GRCm39) E1171G possibly damaging Het
Slc26a8 T C 17: 28,857,375 (GRCm39) T923A possibly damaging Het
Slco1a6 T C 6: 142,078,872 (GRCm39) K141R probably benign Het
Slfn5 T A 11: 82,849,492 (GRCm39) probably null Het
Sympk A T 7: 18,770,755 (GRCm39) H282L probably damaging Het
Tnr A G 1: 159,751,677 (GRCm39) Y1324C probably damaging Het
Topaz1 A G 9: 122,577,600 (GRCm39) N170S possibly damaging Het
Trim66 A G 7: 109,075,086 (GRCm39) S392P probably benign Het
Ttn T C 2: 76,599,155 (GRCm39) T10958A probably damaging Het
Ubr7 A G 12: 102,734,494 (GRCm39) K256R probably benign Het
Other mutations in Trav6-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Trav6-3 APN 14 53,667,800 (GRCm39) missense probably benign 0.01
R4079:Trav6-3 UTSW 14 53,667,537 (GRCm39) missense possibly damaging 0.89
R4513:Trav6-3 UTSW 14 53,667,548 (GRCm39) missense probably benign 0.01
R5851:Trav6-3 UTSW 14 53,667,572 (GRCm39) missense probably benign 0.03
R5864:Trav6-3 UTSW 14 53,667,628 (GRCm39) nonsense probably null
R9609:Trav6-3 UTSW 14 53,667,618 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- TGGAAGGTGTTACAATAGACCCTAG -3'
(R):5'- GCTTAAATCCCACTTAGAATGGG -3'

Sequencing Primer
(F):5'- AGTTTAGTTTCTGTCCACCAGG -3'
(R):5'- CCCACTTAGAATGGGGAATAAAATAG -3'
Posted On 2018-06-06