Incidental Mutation 'R6043:Trav6n-5'
ID483684
Institutional Source Beutler Lab
Gene Symbol Trav6n-5
Ensembl Gene ENSMUSG00000076800
Gene NameT cell receptor alpha variable 6N-5
SynonymsENSMUSG00000072087, Gm10894
MMRRC Submission 044211-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R6043 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location53104871-53105344 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53105151 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 49 (Y49H)
Ref Sequence ENSEMBL: ENSMUSP00000100388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103611]
Predicted Effect probably benign
Transcript: ENSMUST00000103611
AA Change: Y49H

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100388
Gene: ENSMUSG00000076800
AA Change: Y49H

DomainStartEndE-ValueType
Pfam:V-set 20 112 7.2e-17 PFAM
Pfam:Ig_2 21 112 6.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185224
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 T C 1: 171,252,601 F44S probably damaging Het
Ap3b1 A T 13: 94,476,993 T667S probably benign Het
BC027072 T C 17: 71,750,042 D880G probably damaging Het
Camsap1 T C 2: 25,929,925 Y1516C probably benign Het
Ccl17 A G 8: 94,810,472 M1V probably null Het
Cfhr1 T A 1: 139,550,868 T255S probably benign Het
Clcn6 T C 4: 148,008,788 N812D probably damaging Het
Cyp2b10 T C 7: 25,917,339 F402L probably damaging Het
Dgkz A C 2: 91,935,889 S776A probably benign Het
Dnaaf2 A T 12: 69,197,348 L313Q probably damaging Het
Dnah10 G A 5: 124,801,860 G2728S probably damaging Het
Dnah7b T A 1: 46,139,789 M874K probably benign Het
Eef1akmt3 A T 10: 127,033,278 L109Q probably damaging Het
Egf A G 3: 129,736,785 S243P probably benign Het
Fbxw21 T C 9: 109,145,539 I304M possibly damaging Het
Fcgr4 T C 1: 171,020,130 V99A probably damaging Het
Fhdc1 T C 3: 84,448,886 E417G probably damaging Het
Flnc G T 6: 29,446,608 G939V probably damaging Het
Herc1 A G 9: 66,408,154 M1173V probably benign Het
Hspa2 C T 12: 76,406,322 H597Y probably damaging Het
Itgb4 C T 11: 115,979,386 T64I probably benign Het
Kif16b A G 2: 142,711,900 S993P probably damaging Het
Kitl T A 10: 100,064,085 V84E probably damaging Het
Klra17 A G 6: 129,872,187 probably null Het
Map2k3 A G 11: 60,946,746 D224G probably benign Het
Medag T G 5: 149,422,207 F4V probably benign Het
Mob3b C T 4: 34,985,993 V182I probably benign Het
Mvb12b G T 2: 33,874,390 T49K probably damaging Het
Naaladl2 A G 3: 24,058,214 V568A possibly damaging Het
Nbea T C 3: 55,786,475 E2174G probably benign Het
Nmd3 T C 3: 69,745,247 Y389H probably benign Het
Olfr1180 C T 2: 88,412,245 E138K probably benign Het
Olfr309 A G 7: 86,306,339 I258T probably damaging Het
Pcdh1 T A 18: 38,203,274 N103Y probably damaging Het
Pcm1 A G 8: 41,328,778 D1905G possibly damaging Het
Plcd1 A G 9: 119,072,599 F619S probably damaging Het
Ptdss1 T A 13: 66,963,369 D166E probably damaging Het
Rnf213 T C 11: 119,442,101 V2713A probably damaging Het
Sema4f T C 6: 82,919,653 N200D probably damaging Het
Tjp1 A T 7: 65,324,089 N472K probably damaging Het
Trbv2 A G 6: 41,047,970 T107A probably benign Het
Unc13c T C 9: 73,736,651 N1177S possibly damaging Het
Vmn1r212 A G 13: 22,884,088 V25A probably damaging Het
Zfhx4 T G 3: 5,403,427 S2882A probably benign Het
Zswim5 A C 4: 116,962,621 S408R probably benign Het
Other mutations in Trav6n-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4342:Trav6n-5 UTSW 14 53104912 small deletion probably benign
R0033:Trav6n-5 UTSW 14 53104911 missense probably benign 0.00
R3081:Trav6n-5 UTSW 14 53105284 missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GGTAAGTGGAACAACACATTCTG -3'
(R):5'- CGAGTCTGACTCTTGCACTG -3'

Sequencing Primer
(F):5'- GTGGAACAACACATTCTGTCTTG -3'
(R):5'- GCACTGAGGCTTTCTGCAAG -3'
Posted On2017-07-14