Incidental Mutation 'IGL02026:Trbv12-1'
ID184150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trbv12-1
Ensembl Gene ENSMUSG00000095574
Gene NameT cell receptor beta, variable 12-1
SynonymsGm16753, Tcrb-V5.2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02026
Quality Score
Status
Chromosome6
Chromosomal Location41113550-41114067 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41113994 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 100 (D100G)
Ref Sequence ENSEMBL: ENSMUSP00000100083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103267] [ENSMUST00000103268] [ENSMUST00000103269] [ENSMUST00000194399]
Predicted Effect probably damaging
Transcript: ENSMUST00000103267
AA Change: D100G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100083
Gene: ENSMUSG00000095574
AA Change: D100G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,571,802 V237E possibly damaging Het
Amh T C 10: 80,805,408 L54P probably damaging Het
Aoc3 T C 11: 101,337,595 S743P probably benign Het
Arhgap23 T A 11: 97,451,581 W19R probably damaging Het
Atm C T 9: 53,442,417 probably null Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Ccdc47 T C 11: 106,205,027 E281G probably damaging Het
Col7a1 A C 9: 108,968,029 K1650N probably damaging Het
Evi2b T C 11: 79,515,787 S321G probably damaging Het
Fancm T G 12: 65,105,734 V988G probably benign Het
Gbp2 A G 3: 142,633,480 Y431C probably damaging Het
Gclc T C 9: 77,792,060 V530A probably benign Het
Gm4985 T G X: 23,957,994 H314P probably damaging Het
Gm5885 T C 6: 133,531,328 noncoding transcript Het
Hlcs A T 16: 94,134,705 I576N probably damaging Het
Hnrnpul1 A T 7: 25,745,162 F240L probably damaging Het
Itgb6 C A 2: 60,628,066 V448F possibly damaging Het
Lama1 A G 17: 67,809,292 T2385A possibly damaging Het
Lamc2 C T 1: 153,144,736 probably benign Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Lrrtm3 T C 10: 64,088,452 N312S probably damaging Het
Ltbp4 G A 7: 27,327,417 R468* probably null Het
Man1a T C 10: 54,014,473 E373G probably damaging Het
Myo1h A T 5: 114,323,444 Q250L probably null Het
Myo9a T C 9: 59,905,962 V2077A probably damaging Het
Olfr114 A G 17: 37,589,407 probably benign Het
Otud5 C T X: 7,871,993 probably benign Het
Pcsk1 A G 13: 75,112,653 S332G probably benign Het
Pde8b A G 13: 95,034,361 V549A probably damaging Het
Pgap1 A T 1: 54,494,819 M645K probably benign Het
Pm20d1 A T 1: 131,801,759 R175* probably null Het
Polr2b A G 5: 77,332,252 N585S probably benign Het
Recql T A 6: 142,366,668 K41* probably null Het
Sccpdh A T 1: 179,678,069 H138L possibly damaging Het
Sec31a A T 5: 100,369,626 S951T probably benign Het
Slc44a4 A T 17: 34,921,856 probably benign Het
Tchhl1 G T 3: 93,470,555 A189S probably damaging Het
Tdrd12 G A 7: 35,504,233 probably benign Het
Ttll13 T A 7: 80,260,379 S757T probably benign Het
Vipas39 T A 12: 87,251,709 probably benign Het
Vmn1r64 G A 7: 5,883,650 P298L possibly damaging Het
Vmn1r81 A G 7: 12,260,505 S59P probably damaging Het
Vsx1 A T 2: 150,688,527 V145D probably benign Het
Wdfy4 T A 14: 33,093,300 N1586I probably damaging Het
Zan T A 5: 137,405,464 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zzef1 T A 11: 72,881,338 M1707K probably benign Het
Other mutations in Trbv12-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02331:Trbv12-1 APN 6 41114038 missense probably damaging 1.00
R0052:Trbv12-1 UTSW 6 41113916 missense possibly damaging 0.95
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
Z1176:Trbv12-1 UTSW 6 41113575 missense probably benign 0.11
Posted On2014-05-07