Incidental Mutation 'R0052:Trbv12-1'
ID 15345
Institutional Source Beutler Lab
Gene Symbol Trbv12-1
Ensembl Gene ENSMUSG00000095574
Gene Name T cell receptor beta, variable 12-1
Synonyms Gm16753, Tcrb-V5.2
MMRRC Submission 038346-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0052 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 41090501-41091001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41090850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 74 (F74S)
Ref Sequence ENSEMBL: ENSMUSP00000100083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103267] [ENSMUST00000103268] [ENSMUST00000103269] [ENSMUST00000194399]
AlphaFold A0A0B4J1H0
Predicted Effect possibly damaging
Transcript: ENSMUST00000103267
AA Change: F74S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100083
Gene: ENSMUSG00000095574
AA Change: F74S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:V-set 30 124 9.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103268
SMART Domains Protein: ENSMUSP00000100084
Gene: ENSMUSG00000076467

DomainStartEndE-ValueType
IGv 34 109 2.13e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103269
SMART Domains Protein: ENSMUSP00000100085
Gene: ENSMUSG00000094525

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:V-set 30 124 4.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194399
SMART Domains Protein: ENSMUSP00000142225
Gene: ENSMUSG00000076467

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 35 110 8.9e-10 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 78.2%
  • 10x: 46.7%
  • 20x: 12.5%
Validation Efficiency 90% (62/69)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,893,315 (GRCm39) S438P possibly damaging Het
Atosa A G 9: 74,926,265 (GRCm39) probably benign Het
Atp2a1 A G 7: 126,057,069 (GRCm39) probably benign Het
Bicd2 T A 13: 49,528,790 (GRCm39) L184Q probably damaging Het
Bub1 G A 2: 127,650,959 (GRCm39) T618I probably benign Het
Dsp A G 13: 38,381,340 (GRCm39) D2096G possibly damaging Het
Eno4 A G 19: 58,956,985 (GRCm39) D357G probably damaging Het
Fcrl2 A T 3: 87,164,085 (GRCm39) I348N possibly damaging Het
Fgl2 A T 5: 21,580,347 (GRCm39) S230C probably damaging Het
Ginm1 T A 10: 7,655,070 (GRCm39) E57D possibly damaging Het
Itga9 T A 9: 118,465,617 (GRCm39) I157N probably damaging Het
Kif21a T C 15: 90,855,060 (GRCm39) E700G probably damaging Het
Mmd C T 11: 90,150,824 (GRCm39) probably benign Het
Morn3 T C 5: 123,184,726 (GRCm39) Y38C probably damaging Het
Prex2 T A 1: 11,230,380 (GRCm39) L802Q probably damaging Het
Psd3 A G 8: 68,335,631 (GRCm39) probably null Het
Ralgds T A 2: 28,434,400 (GRCm39) probably null Het
Rmdn2 A G 17: 79,957,760 (GRCm39) E16G probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slco3a1 A T 7: 74,154,074 (GRCm39) I166N probably benign Het
Snx5 A T 2: 144,101,112 (GRCm39) probably null Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
St8sia2 G T 7: 73,593,038 (GRCm39) Y339* probably null Het
Tdo2 T A 3: 81,874,332 (GRCm39) N210I probably benign Het
Thada A T 17: 84,762,586 (GRCm39) N104K probably damaging Het
Timm8b A T 9: 50,516,330 (GRCm39) D61V possibly damaging Het
Tshz1 G A 18: 84,033,070 (GRCm39) T446I possibly damaging Het
Ubap2l T C 3: 89,946,235 (GRCm39) N123S possibly damaging Het
Usp12 A G 5: 146,675,914 (GRCm39) V336A possibly damaging Het
Xrn2 T A 2: 146,882,885 (GRCm39) probably benign Het
Zfp14 G T 7: 29,737,753 (GRCm39) Q411K probably damaging Het
Other mutations in Trbv12-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02026:Trbv12-1 APN 6 41,090,928 (GRCm39) missense probably damaging 1.00
IGL02331:Trbv12-1 APN 6 41,090,972 (GRCm39) missense probably damaging 1.00
R2987:Trbv12-1 UTSW 6 41,090,840 (GRCm39) missense probably benign 0.11
R5345:Trbv12-1 UTSW 6 41,090,781 (GRCm39) missense probably benign 0.11
R6019:Trbv12-1 UTSW 6 41,090,780 (GRCm39) missense probably benign 0.00
R9502:Trbv12-1 UTSW 6 41,090,921 (GRCm39) missense probably damaging 0.98
Z1176:Trbv12-1 UTSW 6 41,090,509 (GRCm39) missense probably benign 0.11
Posted On 2012-12-17