Incidental Mutation 'IGL02726:Art1'
ID 305199
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 # IGL02726
Quality Score
Status
Chromosome 7
Chromosomal Location 101750950-101763140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101759955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 85 (V85M)
Ref Sequence ENSEMBL: ENSMUSP00000148204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084830] [ENSMUST00000209809] [ENSMUST00000210211] [ENSMUST00000211408]
AlphaFold Q60935
Predicted Effect possibly damaging
Transcript: ENSMUST00000033300
AA Change: V309M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996
AA Change: V309M

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 possibly damaging
Transcript: ENSMUST00000209809
AA Change: V309M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000210211
AA Change: V85M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A T 2: 128,501,705 (GRCm39) M779K probably benign Het
Atad2b G T 12: 5,024,003 (GRCm39) E43* probably null Het
Clec4a4 A T 6: 122,967,338 (GRCm39) I5F probably damaging Het
Cr1l A T 1: 194,812,188 (GRCm39) I45N probably damaging Het
Dmbt1 T A 7: 130,676,140 (GRCm39) probably benign Het
Dnajb3 A T 1: 88,133,372 (GRCm39) V10E probably damaging Het
Dnajc22 A T 15: 98,998,881 (GRCm39) H22L probably damaging Het
Dnal4 A G 15: 79,647,745 (GRCm39) V40A probably damaging Het
Dsg1b G A 18: 20,532,542 (GRCm39) V529I probably benign Het
Elp1 T A 4: 56,767,878 (GRCm39) probably null Het
Fam131c T A 4: 141,110,113 (GRCm39) D170E probably benign Het
Got1 G A 19: 43,488,851 (GRCm39) probably null Het
Herc1 T A 9: 66,349,270 (GRCm39) V2043E probably benign Het
Hmcn1 A T 1: 150,532,445 (GRCm39) Y3147* probably null Het
Ifi44 T C 3: 151,455,233 (GRCm39) probably benign Het
Il1b A T 2: 129,209,242 (GRCm39) D129E probably damaging Het
Ino80 A T 2: 119,272,964 (GRCm39) I504N probably damaging Het
Itpr2 A G 6: 146,277,419 (GRCm39) I655T probably benign Het
Kcnk4 A G 19: 6,904,457 (GRCm39) probably null Het
Mrgprb2 T A 7: 48,202,618 (GRCm39) R36W probably damaging Het
Mslnl T C 17: 25,963,077 (GRCm39) probably null Het
Or10ak14 T A 4: 118,610,961 (GRCm39) Y260F probably benign Het
Or1e33 T C 11: 73,738,691 (GRCm39) S87G probably benign Het
Or2ag1b A C 7: 106,288,577 (GRCm39) Y120* probably null Het
Or8k16 G T 2: 85,520,554 (GRCm39) L260F possibly damaging Het
Pcnx4 G T 12: 72,620,986 (GRCm39) M935I probably benign Het
Pdgfra C T 5: 75,355,618 (GRCm39) Q1043* probably null Het
Pf4 T C 5: 90,920,523 (GRCm39) V28A probably benign Het
Piezo1 A G 8: 123,213,894 (GRCm39) L1689P probably damaging Het
Ppa2 A G 3: 133,076,222 (GRCm39) S284G possibly damaging Het
Pramel22 G T 4: 143,381,955 (GRCm39) P247H probably damaging Het
Psd2 T C 18: 36,120,355 (GRCm39) probably null Het
Rbm25 G T 12: 83,719,626 (GRCm39) G549W probably damaging Het
Ryr2 T C 13: 11,753,206 (GRCm39) D1705G probably damaging Het
Shf A T 2: 122,189,969 (GRCm39) D96E probably damaging Het
Slc1a1 G A 19: 28,889,169 (GRCm39) V481M probably benign Het
Slc4a9 T C 18: 36,672,670 (GRCm39) V807A probably benign Het
Syne2 T A 12: 76,062,356 (GRCm39) I4226N probably damaging Het
Tex56 A G 13: 35,136,943 (GRCm39) probably benign Het
Tkfc A T 19: 10,573,576 (GRCm39) V254E possibly damaging Het
Ubr2 A C 17: 47,283,847 (GRCm39) Y601D probably damaging Het
Ubr5 A C 15: 38,000,806 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,854 (GRCm39) I50K possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Art1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03238:Art1 APN 7 101,759,956 (GRCm39) missense possibly damaging 0.46
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 2015-04-16