Incidental Mutation 'R4180:Trbv4'
ID 319686
Institutional Source Beutler Lab
Gene Symbol Trbv4
Ensembl Gene ENSMUSG00000076464
Gene Name T cell receptor beta, variable 10
Synonyms Tcrb-V10
MMRRC Submission 041016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R4180 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 41036377-41036820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 41036646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 57 (D57A)
Ref Sequence ENSEMBL: ENSMUSP00000144909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103265] [ENSMUST00000103266]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000103265
AA Change: D57A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100081
Gene: ENSMUSG00000076464
AA Change: D57A

DomainStartEndE-ValueType
IG 27 113 3.54e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000103265
AA Change: D57A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144909
Gene: ENSMUSG00000107486
AA Change: D57A

DomainStartEndE-ValueType
IG 27 113 3.54e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103266
SMART Domains Protein: ENSMUSP00000100082
Gene: ENSMUSG00000076465

DomainStartEndE-ValueType
Pfam:V-set 20 113 5.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193357
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,331,590 (GRCm39) S1326P possibly damaging Het
Adam22 T G 5: 8,199,218 (GRCm39) D246A probably damaging Het
Bmf T C 2: 118,363,018 (GRCm39) probably benign Het
Cd300lf T C 11: 115,015,089 (GRCm39) Y160C possibly damaging Het
Chuk G A 19: 44,090,279 (GRCm39) A71V probably benign Het
Col19a1 C T 1: 24,309,473 (GRCm39) G1060E probably damaging Het
Dock7 A G 4: 98,904,973 (GRCm39) V634A probably benign Het
Dpm3 A G 3: 89,174,039 (GRCm39) probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fam184b T C 5: 45,697,106 (GRCm39) E686G probably benign Het
Fhad1 T A 4: 141,712,854 (GRCm39) D195V possibly damaging Het
Glis2 T C 16: 4,429,240 (GRCm39) S148P probably benign Het
Gm8587 C T 12: 88,056,516 (GRCm39) noncoding transcript Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Haus6 A T 4: 86,501,811 (GRCm39) W687R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Ints9 T C 14: 65,230,430 (GRCm39) L119P probably damaging Het
Itga9 T C 9: 118,436,146 (GRCm39) Y51H probably damaging Het
Klf17 T A 4: 117,616,383 (GRCm39) H316L probably benign Het
Klf4 C T 4: 55,530,884 (GRCm39) G26R possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lhcgr A G 17: 89,049,711 (GRCm39) V605A probably damaging Het
Mafa T C 15: 75,619,413 (GRCm39) Y120C possibly damaging Het
Map3k20 A G 2: 72,271,915 (GRCm39) Y681C probably damaging Het
Nub1 T C 5: 24,897,875 (GRCm39) I87T probably damaging Het
Or1ak2 T A 2: 36,827,242 (GRCm39) V37D probably damaging Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pdzrn4 T A 15: 92,299,898 (GRCm39) V256D possibly damaging Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkcd A G 14: 30,332,261 (GRCm39) probably benign Het
Rgcc T C 14: 79,538,155 (GRCm39) S79G probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Stxbp5l A T 16: 37,068,242 (GRCm39) C315S probably benign Het
Tc2n A G 12: 101,631,954 (GRCm39) L301P probably damaging Het
Tcerg1l T C 7: 137,878,405 (GRCm39) probably null Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tgm5 T C 2: 120,907,442 (GRCm39) I94V probably benign Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tuba4a T C 1: 75,192,426 (GRCm39) D396G probably benign Het
Txnrd2 C G 16: 18,245,175 (GRCm39) probably null Het
Zfp445 T C 9: 122,681,589 (GRCm39) N784S probably benign Het
Zfp459 G T 13: 67,556,562 (GRCm39) L174I probably benign Het
Other mutations in Trbv4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02825:Trbv4 APN 6 41,036,613 (GRCm39) missense probably damaging 1.00
R5034:Trbv4 UTSW 6 41,036,624 (GRCm39) missense probably benign 0.00
R5941:Trbv4 UTSW 6 41,036,563 (GRCm39) nonsense probably null
R6147:Trbv4 UTSW 6 41,036,637 (GRCm39) missense probably damaging 1.00
R7155:Trbv4 UTSW 6 41,036,787 (GRCm39) missense probably damaging 1.00
R9206:Trbv4 UTSW 6 41,036,624 (GRCm39) missense probably benign 0.00
R9287:Trbv4 UTSW 6 41,036,696 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CTGCCTCTTGGGAATAGGTG -3'
(R):5'- ACTGTGTCTTAGCTGCTGGC -3'

Sequencing Primer
(F):5'- GTTTGAGTCCTTTGAGAATGACTAC -3'
(R):5'- TGGCACAGAGATACACAGC -3'
Posted On 2015-06-10