Incidental Mutation 'IGL03161:Trbv20'
ID411420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trbv20
Ensembl Gene ENSMUSG00000076476
Gene NameT cell receptor beta, variable 20
SynonymsTcrb-V15, Gm16911
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03161
Quality Score
Status
Chromosome6
Chromosomal Location41188273-41188977 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41188823 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 61 (I61L)
Ref Sequence ENSEMBL: ENSMUSP00000100093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103277]
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
2210010C04Rik A T 6: 41,034,306 H47Q probably damaging Het
4930579G24Rik T C 3: 79,629,186 probably benign Het
Abtb2 G T 2: 103,567,454 R243L probably benign Het
Adamts12 A G 15: 11,292,082 E871G possibly damaging Het
Ascc3 A T 10: 50,618,072 N201I probably damaging Het
Aste1 A T 9: 105,396,672 H37L probably damaging Het
Atp1a2 T A 1: 172,278,862 probably benign Het
Cand2 C A 6: 115,792,737 T836K probably benign Het
Ccdc151 A G 9: 22,002,315 S54P probably benign Het
Dnah7c G A 1: 46,467,296 A178T probably benign Het
Dnm2 A G 9: 21,485,724 probably benign Het
Dock3 T C 9: 107,023,788 D326G probably damaging Het
Fignl1 A C 11: 11,802,680 M125R probably benign Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Hivep2 T C 10: 14,143,356 V1957A probably damaging Het
Hps1 T C 19: 42,767,271 E172G probably damaging Het
Il16 T C 7: 83,722,499 D33G probably damaging Het
Lamb1 A G 12: 31,326,256 N1542D probably benign Het
Mllt6 T C 11: 97,667,151 Y179H probably benign Het
Muc4 T C 16: 32,751,948 S609P possibly damaging Het
Nacad G A 11: 6,600,378 Q938* probably null Het
Olfr1184 G A 2: 88,487,448 A239T probably benign Het
Olfr1295 T C 2: 111,565,331 I38V possibly damaging Het
Pik3c3 C T 18: 30,293,707 T292I probably benign Het
Slit3 T C 11: 35,700,414 V1351A probably benign Het
Spg7 T C 8: 123,087,331 M443T probably damaging Het
Tcof1 A G 18: 60,833,488 S344P possibly damaging Het
Tex37 T C 6: 70,913,535 E91G probably benign Het
Tm4sf5 T A 11: 70,510,272 S105T probably benign Het
Tmem119 A G 5: 113,794,900 V280A possibly damaging Het
Trip12 T C 1: 84,761,132 probably benign Het
Vmn1r32 T A 6: 66,553,220 M191L possibly damaging Het
Vta1 A T 10: 14,667,972 H219Q possibly damaging Het
Other mutations in Trbv20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Trbv20 APN 6 41188307 splice site probably benign
IGL02451:Trbv20 APN 6 41188276 missense unknown
R4060:Trbv20 UTSW 6 41188261 unclassified probably benign
R5789:Trbv20 UTSW 6 41188791 missense probably damaging 1.00
R6245:Trbv20 UTSW 6 41188906 missense possibly damaging 0.87
R7556:Trbv20 UTSW 6 41188781 missense probably benign 0.10
R8284:Trbv20 UTSW 6 41188848 missense probably damaging 0.97
Posted On2016-08-02