Incidental Mutation 'IGL01916:Trbv13-1'
ID179934
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: 0.044) question?
Stock #IGL01916
Quality Score
Status
Chromosome6
Chromosomal Location41116007-41116468 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41116312 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 60 (R60G)
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 damaging
Transcript: ENSMUST00000103268
AA Change: R60G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100084
Gene: ENSMUSG00000076467
AA Change: R60G

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 possibly damaging
Transcript: ENSMUST00000194399
AA Change: R61G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142225
Gene: ENSMUSG00000076467
AA Change: R61G

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,794,111 T187A probably damaging Het
A430005L14Rik C A 4: 153,961,540 F214L possibly damaging Het
A830018L16Rik C A 1: 11,748,107 probably benign Het
Adgrd1 T C 5: 129,132,838 S342P probably benign Het
Aldh4a1 A G 4: 139,644,146 Y457C probably damaging Het
Ankrd7 A T 6: 18,868,251 E124V possibly damaging Het
Atad5 T A 11: 80,112,839 probably null Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Card14 T C 11: 119,343,145 Y854H probably benign Het
Ccdc85c T C 12: 108,207,844 H355R probably damaging Het
Ccr3 T A 9: 124,029,552 V308D probably damaging Het
Cep170 T C 1: 176,739,910 probably benign Het
Cmtr2 C A 8: 110,221,948 Q297K probably benign Het
Col19a1 A C 1: 24,534,241 L150R unknown Het
Cwf19l2 T C 9: 3,477,869 I858T possibly damaging Het
Cyp39a1 C T 17: 43,731,050 P383S probably damaging Het
Ddi2 C T 4: 141,695,398 probably benign Het
Dnah17 T G 11: 118,125,288 I342L probably benign Het
Efhc1 T C 1: 20,978,749 I462T probably damaging Het
Ephx4 A T 5: 107,406,030 probably null Het
Fam193b A G 13: 55,550,218 probably benign Het
Fbn1 T C 2: 125,315,446 N2306D possibly damaging Het
Folr1 A T 7: 101,858,740 H164Q probably benign Het
Fut10 T C 8: 31,235,706 V163A probably benign Het
Gal3st4 G A 5: 138,270,935 R83C probably damaging Het
Galnt16 T C 12: 80,592,490 probably null Het
Gata5 G A 2: 180,326,941 S380F possibly damaging Het
Gm1966 T G 7: 106,601,826 H737P probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4787 A T 12: 81,377,444 L647M probably benign Het
Hcfc2 A G 10: 82,734,383 K523E possibly damaging Het
Igkv6-15 A T 6: 70,406,474 Y114* probably null Het
Il10ra A T 9: 45,256,146 L369Q probably damaging Het
Il6st A G 13: 112,480,072 K51R possibly damaging Het
Kif26a C T 12: 112,176,894 P1194L possibly damaging Het
Kntc1 T G 5: 123,801,913 L1590R probably damaging Het
Lipo1 G T 19: 33,784,782 A105E probably damaging Het
Macf1 T A 4: 123,441,630 S4382C probably damaging Het
Macf1 C T 4: 123,476,037 E79K probably damaging Het
Nmnat2 T C 1: 153,094,046 I195T probably damaging Het
Olfr741 A G 14: 50,485,493 T12A probably benign Het
Pcdhb13 A G 18: 37,443,861 T431A possibly damaging Het
Pcgf3 G A 5: 108,486,179 G101D probably benign Het
Phip T C 9: 82,890,469 D1070G possibly damaging Het
Ren1 A G 1: 133,358,412 H231R probably benign Het
Sox9 C A 11: 112,784,674 Q230K probably benign Het
Stard9 T A 2: 120,668,016 Y154N probably damaging Het
Thnsl1 A T 2: 21,212,665 N410I possibly damaging Het
Tnfrsf21 A T 17: 43,039,803 E286V probably benign Het
Ttc30a1 C A 2: 75,980,879 V287L probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wrn T A 8: 33,257,224 I1110F possibly damaging Het
Zfp777 G T 6: 48,025,342 R649S probably damaging Het
Zmym6 T A 4: 127,123,756 I1110N probably damaging Het
Other mutations in Trbv13-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03002:Trbv13-1 APN 6 41116235 missense probably benign 0.06
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
Posted On2014-05-07