Incidental Mutation 'R5168:Trav6-5'
ID 397408
Institutional Source Beutler Lab
Gene Symbol Trav6-5
Ensembl Gene ENSMUSG00000096149
Gene Name T cell receptor alpha variable 6-5
Synonyms
MMRRC Submission 042748-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R5168 (G1)
Quality Score 88
Status Validated
Chromosome 14
Chromosomal Location 53728609-53729079 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53728973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 78 (N78Y)
Ref Sequence ENSEMBL: ENSMUSP00000137814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103581] [ENSMUST00000181210] [ENSMUST00000183488]
AlphaFold A0A075B6D4
Predicted Effect probably benign
Transcript: ENSMUST00000103581
SMART Domains Protein: ENSMUSP00000100358
Gene: ENSMUSG00000096900

DomainStartEndE-ValueType
IGv 36 111 1.61e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181210
AA Change: N78Y

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000137814
Gene: ENSMUSG00000096149
AA Change: N78Y

DomainStartEndE-ValueType
IG 27 112 4.04e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183488
AA Change: N77Y

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139176
Gene: ENSMUSG00000096149
AA Change: N77Y

DomainStartEndE-ValueType
IG 26 111 4.04e0 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,086,070 (GRCm39) N478D probably benign Het
Acsl1 T A 8: 46,966,303 (GRCm39) probably benign Het
Aox1 T A 1: 58,088,561 (GRCm39) C116S probably damaging Het
Bag6 T C 17: 35,363,671 (GRCm39) L785P probably damaging Het
Calcr T C 6: 3,708,610 (GRCm39) N192S probably benign Het
Cntrl T A 2: 35,047,667 (GRCm39) L1414H probably damaging Het
Cntrob T A 11: 69,190,816 (GRCm39) I849F possibly damaging Het
Col6a3 C T 1: 90,701,361 (GRCm39) W2518* probably null Het
Cxcl15 T A 5: 90,943,142 (GRCm39) I48K probably damaging Het
Dab2 T C 15: 6,365,924 (GRCm39) probably benign Het
Ddx54 A G 5: 120,755,097 (GRCm39) E82G probably benign Het
Dock1 T C 7: 134,720,637 (GRCm39) W1249R probably damaging Het
Fras1 A C 5: 96,856,616 (GRCm39) M2000L probably benign Het
Gpr31b A T 17: 13,270,326 (GRCm39) I281N probably damaging Het
Gvin3 T C 7: 106,196,054 (GRCm39) noncoding transcript Het
Haus5 T C 7: 30,357,136 (GRCm39) T432A possibly damaging Het
Hecw2 A G 1: 53,952,459 (GRCm39) S925P probably damaging Het
Katnal1 A G 5: 148,858,132 (GRCm39) M26T possibly damaging Het
Mccc1 C T 3: 36,044,929 (GRCm39) W71* probably null Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Nrbp1 T A 5: 31,407,481 (GRCm39) V397D probably damaging Het
Nt5dc1 T A 10: 34,273,236 (GRCm39) E187D probably benign Het
Or1e19 T A 11: 73,316,669 (GRCm39) I47F probably benign Het
Or51f23 C T 7: 102,453,528 (GRCm39) A281V probably benign Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Pramel27 T C 4: 143,579,768 (GRCm39) V451A probably benign Het
Ralgapa1 A G 12: 55,804,817 (GRCm39) V493A probably benign Het
Ryr2 T C 13: 11,767,207 (GRCm39) T1228A probably benign Het
Slc26a3 G A 12: 31,518,553 (GRCm39) V674I possibly damaging Het
Spata31f1a C T 4: 42,851,488 (GRCm39) V223I probably damaging Het
Srp68 C A 11: 116,156,300 (GRCm39) E147D probably damaging Het
Tacr3 T C 3: 134,535,320 (GRCm39) I96T probably damaging Het
Tmem236 T C 2: 14,197,139 (GRCm39) probably null Het
Tmem62 T A 2: 120,824,088 (GRCm39) N254K probably benign Het
Tmem79 A T 3: 88,240,651 (GRCm39) L99Q probably damaging Het
Trim33 C T 3: 103,248,997 (GRCm39) Q807* probably null Het
Ugt1a10 A G 1: 87,983,531 (GRCm39) T110A probably benign Het
Vcl C T 14: 21,060,170 (GRCm39) T603I probably damaging Het
Vps8 A T 16: 21,276,195 (GRCm39) T243S probably damaging Het
Vps8 A C 16: 21,351,849 (GRCm39) I323L probably benign Het
Zfp746 G C 6: 48,041,329 (GRCm39) Q465E possibly damaging Het
Other mutations in Trav6-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3942:Trav6-5 UTSW 14 53,728,838 (GRCm39) missense probably benign 0.01
R4704:Trav6-5 UTSW 14 53,728,883 (GRCm39) nonsense probably null
R4745:Trav6-5 UTSW 14 53,728,960 (GRCm39) missense probably benign 0.00
R5229:Trav6-5 UTSW 14 53,729,045 (GRCm39) missense probably damaging 0.98
R6234:Trav6-5 UTSW 14 53,728,832 (GRCm39) missense probably benign 0.01
R7729:Trav6-5 UTSW 14 53,728,964 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCAGTGACTCAGACAGAAGGC -3'
(R):5'- ATGTGTGGTATCAACAAGAGCAGAC -3'

Sequencing Primer
(F):5'- CCCAGTGACACTGTCTGAAG -3'
(R):5'- CTCGTGGTCCCTAAATGAGTGATC -3'
Posted On 2016-07-06