Incidental Mutation 'IGL00551:Art2b'
ID5196
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Art2b
Ensembl Gene ENSMUSG00000030651
Gene NameADP-ribosyltransferase 2b
SynonymsRt6, Rt-6, Rt6-2, ART2.2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL00551
Quality Score
Status
Chromosome7
Chromosomal Location101576970-101585600 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101580569 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 41 (C41Y)
Ref Sequence ENSEMBL: ENSMUSP00000147267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063920] [ENSMUST00000209526]
Predicted Effect probably damaging
Transcript: ENSMUST00000063920
AA Change: C41Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065658
Gene: ENSMUSG00000030651
AA Change: C41Y

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ART 27 242 3.2e-87 PFAM
low complexity region 269 289 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000209526
AA Change: C41Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btk A G X: 134,573,934 Y42H probably damaging Het
Cacna1e T C 1: 154,403,683 D1720G probably damaging Het
Ccr5 T C 9: 124,124,588 I76T probably damaging Het
Chd3 A G 11: 69,346,629 V1913A probably damaging Het
Dmxl2 A G 9: 54,450,838 Y526H probably damaging Het
Dnah8 A T 17: 30,663,478 K675* probably null Het
Eif2b1 A G 5: 124,576,869 F115L probably damaging Het
Erlin1 T C 19: 44,059,146 D112G probably damaging Het
Fabp12 A G 3: 10,246,055 probably benign Het
Fam47c A G X: 78,738,454 E214G probably damaging Het
Fkbp5 G T 17: 28,401,046 probably benign Het
Hist1h1c C A 13: 23,738,845 probably benign Het
Kidins220 G T 12: 25,038,560 probably benign Het
Limd2 T C 11: 106,159,205 E15G probably benign Het
Mga T A 2: 119,919,814 C696S possibly damaging Het
Naa16 A G 14: 79,355,729 F468L probably damaging Het
Ndufaf1 A G 2: 119,660,469 S37P probably damaging Het
Phrf1 A G 7: 141,258,877 probably benign Het
Prr14 A G 7: 127,474,647 T228A probably benign Het
Rfc1 A T 5: 65,296,009 F265L probably benign Het
Selenos A G 7: 66,087,194 E137G probably benign Het
Tars T C 15: 11,388,221 probably null Het
Tpcn1 A G 5: 120,560,325 I44T probably benign Het
Usp26 A G X: 51,757,305 V31A probably benign Het
Other mutations in Art2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:Art2b APN 7 101580578 missense probably damaging 1.00
R1488:Art2b UTSW 7 101580207 missense probably damaging 1.00
R1813:Art2b UTSW 7 101580029 missense probably benign 0.38
R1896:Art2b UTSW 7 101580029 missense probably benign 0.38
R1941:Art2b UTSW 7 101580317 missense probably damaging 1.00
R1944:Art2b UTSW 7 101579946 missense probably benign 0.00
R1967:Art2b UTSW 7 101580207 missense probably damaging 1.00
R2019:Art2b UTSW 7 101579987 missense probably benign 0.02
R3605:Art2b UTSW 7 101579945 missense probably benign 0.00
R4424:Art2b UTSW 7 101579922 missense probably benign 0.23
R4960:Art2b UTSW 7 101580230 missense probably damaging 1.00
R5658:Art2b UTSW 7 101580362 missense probably damaging 0.99
R6024:Art2b UTSW 7 101580380 missense probably benign 0.03
R6223:Art2b UTSW 7 101579951 missense possibly damaging 0.88
R6980:Art2b UTSW 7 101580473 missense probably benign 0.01
R7184:Art2b UTSW 7 101580451 missense probably benign 0.17
Z1176:Art2b UTSW 7 101578882 missense not run
Posted On2012-04-20