Incidental Mutation 'IGL03161:Trbv20'
ID 411420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trbv20
Ensembl Gene ENSMUSG00000076476
Gene Name T cell receptor beta, variable 20
Synonyms Gm16911, Tcrb-V15
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03161
Quality Score
Status
Chromosome 6
Chromosomal Location 41165207-41165911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41165757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 61 (I61L)
Ref Sequence ENSEMBL: ENSMUSP00000100093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103277]
AlphaFold A0A0B4J1H5
Predicted Effect probably benign
Transcript: ENSMUST00000103277
AA Change: I61L

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100093
Gene: ENSMUSG00000076476
AA Change: I61L

DomainStartEndE-ValueType
Pfam:V-set 15 111 8e-11 PFAM
Pfam:I-set 17 111 1.8e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik T C 3: 79,536,493 (GRCm39) probably benign Het
Abtb2 G T 2: 103,397,799 (GRCm39) R243L probably benign Het
Adamts12 A G 15: 11,292,168 (GRCm39) E871G possibly damaging Het
Ascc3 A T 10: 50,494,168 (GRCm39) N201I probably damaging Het
Aste1 A T 9: 105,273,871 (GRCm39) H37L probably damaging Het
Atp1a2 T A 1: 172,106,429 (GRCm39) probably benign Het
Cand2 C A 6: 115,769,698 (GRCm39) T836K probably benign Het
Dnah7c G A 1: 46,506,456 (GRCm39) A178T probably benign Het
Dnm2 A G 9: 21,397,020 (GRCm39) probably benign Het
Dock3 T C 9: 106,900,987 (GRCm39) D326G probably damaging Het
Fignl1 A C 11: 11,752,680 (GRCm39) M125R probably benign Het
Gabarapl2 T A 8: 112,669,168 (GRCm39) V42D probably benign Het
Hivep2 T C 10: 14,019,100 (GRCm39) V1957A probably damaging Het
Hps1 T C 19: 42,755,710 (GRCm39) E172G probably damaging Het
Il16 T C 7: 83,371,707 (GRCm39) D33G probably damaging Het
Lamb1 A G 12: 31,376,255 (GRCm39) N1542D probably benign Het
Mllt6 T C 11: 97,557,977 (GRCm39) Y179H probably benign Het
Muc4 T C 16: 32,570,766 (GRCm39) S609P possibly damaging Het
Nacad G A 11: 6,550,378 (GRCm39) Q938* probably null Het
Odad3 A G 9: 21,913,611 (GRCm39) S54P probably benign Het
Or4k45 T C 2: 111,395,676 (GRCm39) I38V possibly damaging Het
Or4p22 G A 2: 88,317,792 (GRCm39) A239T probably benign Het
Pik3c3 C T 18: 30,426,760 (GRCm39) T292I probably benign Het
Prss3b A T 6: 41,011,240 (GRCm39) H47Q probably damaging Het
Slit3 T C 11: 35,591,241 (GRCm39) V1351A probably benign Het
Spg7 T C 8: 123,814,070 (GRCm39) M443T probably damaging Het
Spmip9 T C 6: 70,890,519 (GRCm39) E91G probably benign Het
Tcof1 A G 18: 60,966,560 (GRCm39) S344P possibly damaging Het
Tm4sf5 T A 11: 70,401,098 (GRCm39) S105T probably benign Het
Tmem119 A G 5: 113,932,961 (GRCm39) V280A possibly damaging Het
Trip12 T C 1: 84,738,853 (GRCm39) probably benign Het
Vmn1r32 T A 6: 66,530,204 (GRCm39) M191L possibly damaging Het
Vta1 A T 10: 14,543,716 (GRCm39) H219Q possibly damaging Het
Other mutations in Trbv20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Trbv20 APN 6 41,165,241 (GRCm39) splice site probably benign
IGL02451:Trbv20 APN 6 41,165,210 (GRCm39) missense unknown
R4060:Trbv20 UTSW 6 41,165,195 (GRCm39) unclassified probably benign
R5789:Trbv20 UTSW 6 41,165,725 (GRCm39) missense probably damaging 1.00
R6245:Trbv20 UTSW 6 41,165,840 (GRCm39) missense possibly damaging 0.87
R7556:Trbv20 UTSW 6 41,165,715 (GRCm39) missense probably benign 0.10
R8284:Trbv20 UTSW 6 41,165,782 (GRCm39) missense probably damaging 0.97
R8440:Trbv20 UTSW 6 41,165,892 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02