Incidental Mutation 'IGL03238:Art1'
ID 414168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Art1
Ensembl Gene ENSMUSG00000030996
Gene Name ADP-ribosyltransferase 1
Synonyms Yac-1, ADPRT
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03238
Quality Score
Status
Chromosome 7
Chromosomal Location 101750950-101763140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101759956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 85 (V85A)
Ref Sequence ENSEMBL: ENSMUSP00000148204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084830] [ENSMUST00000209809] [ENSMUST00000210211] [ENSMUST00000211408]
AlphaFold Q60935
Predicted Effect probably benign
Transcript: ENSMUST00000033300
AA Change: V309A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996
AA Change: V309A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ART 39 269 2e-99 PFAM
low complexity region 288 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084830
SMART Domains Protein: ENSMUSP00000081891
Gene: ENSMUSG00000066279

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:Neur_chan_LBD 30 236 1.5e-67 PFAM
Pfam:Neur_chan_memb 243 384 9.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209809
AA Change: V309A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210211
AA Change: V85A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000211408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211553
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,339 (GRCm39) T285P probably benign Het
Abcf1 T C 17: 36,274,215 (GRCm39) K186E probably damaging Het
Adam3 T C 8: 25,177,981 (GRCm39) probably null Het
Ccdc110 A G 8: 46,394,859 (GRCm39) H250R probably benign Het
Cyp3a13 T A 5: 137,897,151 (GRCm39) I388F probably damaging Het
Dnah11 C T 12: 118,073,633 (GRCm39) V1425M probably damaging Het
Donson G A 16: 91,478,134 (GRCm39) Q22* probably null Het
Eif2b2 A G 12: 85,270,173 (GRCm39) T238A probably benign Het
Emc2 T A 15: 43,371,249 (GRCm39) probably null Het
Fkbp4 A T 6: 128,411,720 (GRCm39) V123E probably damaging Het
Frem2 A T 3: 53,563,682 (GRCm39) M275K possibly damaging Het
Gcat T A 15: 78,920,210 (GRCm39) probably benign Het
Gemin2 G A 12: 59,063,748 (GRCm39) probably benign Het
Ilf3 T A 9: 21,303,646 (GRCm39) V169E probably damaging Het
Klra17 T C 6: 129,845,773 (GRCm39) H147R probably benign Het
Lama5 A G 2: 179,830,367 (GRCm39) I1880T probably benign Het
Lzts1 T C 8: 69,591,446 (GRCm39) D234G probably damaging Het
Map3k4 G A 17: 12,490,045 (GRCm39) P462L probably benign Het
Marchf6 C A 15: 31,462,087 (GRCm39) probably benign Het
Mcm6 A T 1: 128,283,257 (GRCm39) F83I probably benign Het
Mtpn A G 6: 35,499,708 (GRCm39) L32P probably damaging Het
Mybpc3 A T 2: 90,962,004 (GRCm39) I841F probably damaging Het
Ndst2 G T 14: 20,778,572 (GRCm39) H399N probably damaging Het
Npat G T 9: 53,481,726 (GRCm39) V1145F probably damaging Het
Or51b6 G A 7: 103,555,717 (GRCm39) A21T probably benign Het
P2ry1 T A 3: 60,911,916 (GRCm39) S352T probably damaging Het
Plaa T C 4: 94,472,133 (GRCm39) T326A probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Prb1b T A 6: 132,289,308 (GRCm39) Q172L unknown Het
Setd1a C T 7: 127,384,718 (GRCm39) T523I possibly damaging Het
Sgcz C T 8: 38,030,294 (GRCm39) probably null Het
Slc12a2 T C 18: 58,047,306 (GRCm39) Y740H possibly damaging Het
Stab2 A G 10: 86,690,985 (GRCm39) C745R probably damaging Het
Tmem101 A T 11: 102,046,611 (GRCm39) L86Q probably damaging Het
Tmtc3 A C 10: 100,313,702 (GRCm39) F57V probably damaging Het
Vps50 A G 6: 3,594,771 (GRCm39) K778R possibly damaging Het
Washc5 G A 15: 59,218,691 (GRCm39) T692M probably damaging Het
Zc3hav1 A T 6: 38,309,685 (GRCm39) V379D probably damaging Het
Zfp142 G T 1: 74,615,437 (GRCm39) R459S probably benign Het
Zfp512b A G 2: 181,231,553 (GRCm39) V199A probably damaging Het
Other mutations in Art1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:Art1 APN 7 101,759,955 (GRCm39) missense probably damaging 0.97
R0885:Art1 UTSW 7 101,756,541 (GRCm39) missense probably damaging 1.00
R1343:Art1 UTSW 7 101,756,160 (GRCm39) missense probably damaging 1.00
R1348:Art1 UTSW 7 101,756,579 (GRCm39) missense possibly damaging 0.55
R2167:Art1 UTSW 7 101,756,031 (GRCm39) missense probably damaging 0.99
R4637:Art1 UTSW 7 101,755,544 (GRCm39) missense probably damaging 0.96
R4821:Art1 UTSW 7 101,756,385 (GRCm39) missense probably damaging 1.00
R5629:Art1 UTSW 7 101,756,286 (GRCm39) missense probably benign 0.07
R6150:Art1 UTSW 7 101,756,294 (GRCm39) missense probably benign
R6936:Art1 UTSW 7 101,755,977 (GRCm39) missense possibly damaging 0.58
R7304:Art1 UTSW 7 101,755,531 (GRCm39) missense possibly damaging 0.56
R8039:Art1 UTSW 7 101,756,052 (GRCm39) missense probably benign 0.00
R8100:Art1 UTSW 7 101,756,405 (GRCm39) missense probably damaging 1.00
R8183:Art1 UTSW 7 101,756,633 (GRCm39) missense probably damaging 0.96
Z1186:Art1 UTSW 7 101,756,066 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02