Incidental Mutation 'R0052:Trbv12-1'
ID15345
Institutional Source Beutler Lab
Gene Symbol Trbv12-1
Ensembl Gene ENSMUSG00000095574
Gene NameT cell receptor beta, variable 12-1
SynonymsGm16753, Tcrb-V5.2
MMRRC Submission 038346-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #R0052 (G1)
Quality Score
Status Validated
Chromosome6
Chromosomal Location41113550-41114067 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41113916 bp
ZygosityHeterozygous
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]
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 0.062 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: 23,915,951 S438P possibly damaging Het
Atp2a1 A G 7: 126,457,897 probably benign Het
Bicd2 T A 13: 49,375,314 L184Q probably damaging Het
Bub1 G A 2: 127,809,039 T618I probably benign Het
Dsp A G 13: 38,197,364 D2096G possibly damaging Het
Eno4 A G 19: 58,968,553 D357G probably damaging Het
Fam214a A G 9: 75,018,983 probably benign Het
Fcrls A T 3: 87,256,778 I348N possibly damaging Het
Fgl2 A T 5: 21,375,349 S230C probably damaging Het
Ginm1 T A 10: 7,779,306 E57D possibly damaging Het
Itga9 T A 9: 118,636,549 I157N probably damaging Het
Kif21a T C 15: 90,970,857 E700G probably damaging Het
Mmd C T 11: 90,259,998 probably benign Het
Morn3 T C 5: 123,046,663 Y38C probably damaging Het
Prex2 T A 1: 11,160,156 L802Q probably damaging Het
Psd3 A G 8: 67,882,979 probably null Het
Ralgds T A 2: 28,544,388 probably null Het
Rmdn2 A G 17: 79,650,331 E16G probably damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc4a4 A C 5: 89,156,336 H502P possibly damaging Het
Slco3a1 A T 7: 74,504,326 I166N probably benign Het
Snx5 A T 2: 144,259,192 probably null Het
Srgap1 T C 10: 121,800,827 D741G possibly damaging Het
St8sia2 G T 7: 73,943,290 Y339* probably null Het
Tdo2 T A 3: 81,967,025 N210I probably benign Het
Thada A T 17: 84,455,158 N104K probably damaging Het
Timm8b A T 9: 50,605,030 D61V possibly damaging Het
Tshz1 G A 18: 84,014,945 T446I possibly damaging Het
Ubap2l T C 3: 90,038,928 N123S possibly damaging Het
Usp12 A G 5: 146,739,104 V336A possibly damaging Het
Xrn2 T A 2: 147,040,965 probably benign Het
Zfp14 G T 7: 30,038,328 Q411K probably damaging Het
Other mutations in Trbv12-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02026:Trbv12-1 APN 6 41113994 missense probably damaging 1.00
IGL02331:Trbv12-1 APN 6 41114038 missense probably damaging 1.00
R2987:Trbv12-1 UTSW 6 41113906 missense probably benign 0.11
R5345:Trbv12-1 UTSW 6 41113847 missense probably benign 0.11
R6019:Trbv12-1 UTSW 6 41113846 missense probably benign 0.00
Posted On2012-12-17