Incidental Mutation 'IGL03002:Trbv13-1'
ID407383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trbv13-1
Ensembl Gene ENSMUSG00000076467
Gene NameT cell receptor beta, variable 13-1
SynonymsTcrb-V8.3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL03002
Quality Score
Status
Chromosome6
Chromosomal Location41116007-41116468 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41116235 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 34 (N34S)
Ref Sequence ENSEMBL: ENSMUSP00000100084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103267] [ENSMUST00000103268] [ENSMUST00000103269] [ENSMUST00000194399]
Predicted Effect probably benign
Transcript: ENSMUST00000103267
SMART Domains Protein: ENSMUSP00000100083
Gene: ENSMUSG00000095574

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:V-set 30 124 9.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103268
AA Change: N34S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000100084
Gene: ENSMUSG00000076467
AA Change: N34S

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
AA Change: N35S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000142225
Gene: ENSMUSG00000076467
AA Change: N35S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 35 110 8.9e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,836,969 I398V probably benign Het
Adcy4 A T 14: 55,773,556 C635S probably benign Het
Asic4 C A 1: 75,451,323 D164E possibly damaging Het
C8g T A 2: 25,498,811 *203L probably null Het
Cad T C 5: 31,054,986 V11A probably benign Het
Cckar T C 5: 53,702,905 N194S probably damaging Het
Cdc123 T C 2: 5,798,355 probably benign Het
Chrm5 T C 2: 112,480,361 T137A probably damaging Het
Cyp1a1 A G 9: 57,702,441 probably benign Het
Dapk3 G T 10: 81,190,603 E187* probably null Het
Dmtf1 T C 5: 9,140,474 E80G probably damaging Het
Dusp19 T A 2: 80,630,935 N189K probably damaging Het
Gfral A G 9: 76,197,238 V164A possibly damaging Het
Hk1 A T 10: 62,271,799 V799E probably damaging Het
Iars2 C T 1: 185,322,816 probably null Het
Jcad T A 18: 4,675,153 Y972N probably benign Het
Lrp1 A T 10: 127,589,636 D708E probably damaging Het
Mbtd1 T A 11: 93,924,490 H301Q probably benign Het
Med12 A G X: 101,295,855 T2004A probably benign Het
Mib1 T C 18: 10,798,356 I739T possibly damaging Het
Mthfsd C T 8: 121,108,279 probably benign Het
Mybpc3 T G 2: 91,123,889 F369C probably damaging Het
Nfatc2 C T 2: 168,534,984 V329M probably damaging Het
Ngef A T 1: 87,509,392 probably null Het
Nlrp1b T C 11: 71,168,859 E759G probably benign Het
Olfr432 C A 1: 174,050,625 T84N probably benign Het
Prdm4 T C 10: 85,893,152 E790G probably benign Het
Psmd12 A G 11: 107,485,781 D81G probably benign Het
Rnf144b A G 13: 47,242,883 H232R probably damaging Het
Sec63 C T 10: 42,810,909 T475M possibly damaging Het
Slc16a4 A T 3: 107,300,786 N204I probably benign Het
Socs1 T C 16: 10,784,540 N111S probably damaging Het
Srpr A G 9: 35,214,721 N432D probably damaging Het
Srrm2 A G 17: 23,815,734 probably benign Het
Svs1 A G 6: 48,987,118 H20R probably benign Het
Tgoln1 A G 6: 72,616,072 S142P possibly damaging Het
Vmn2r26 T C 6: 124,039,795 V406A possibly damaging Het
Vsig1 G T X: 140,926,339 G79V probably damaging Het
Other mutations in Trbv13-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Trbv13-1 APN 6 41116312 missense probably damaging 1.00
IGL03008:Trbv13-1 APN 6 41116295 missense probably damaging 1.00
R2698:Trbv13-1 UTSW 6 41116438 missense probably damaging 0.98
R2970:Trbv13-1 UTSW 6 41116376 missense possibly damaging 0.68
R3878:Trbv13-1 UTSW 6 41116388 missense probably benign 0.16
R5013:Trbv13-1 UTSW 6 41116255 nonsense probably null
R6113:Trbv13-1 UTSW 6 41116379 missense probably benign 0.10
R7239:Trbv13-1 UTSW 6 41116391 missense probably benign 0.00
Posted On2016-08-02