Incidental Mutation 'R4637:Art1'
ID 350761
Institutional Source Beutler Lab
Gene Symbol Art1
Ensembl Gene ENSMUSG00000030996
Gene Name ADP-ribosyltransferase 1
Synonyms Yac-1, ADPRT
MMRRC Submission 042010-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4637 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101750950-101763140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101755544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 12 (V12E)
Ref Sequence ENSEMBL: ENSMUSP00000147911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084830] [ENSMUST00000094128] [ENSMUST00000209809] [ENSMUST00000210211]
AlphaFold Q60935
Predicted Effect probably damaging
Transcript: ENSMUST00000033300
AA Change: V12E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996
AA Change: V12E

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: ENSMUST00000094128
SMART Domains Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ART 29 255 3.6e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209809
AA Change: V12E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect unknown
Transcript: ENSMUST00000210211
AA Change: V12E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211553
Meta Mutation Damage Score 0.2713 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (27/28)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc121 G A 5: 31,645,435 (GRCm39) R396Q probably benign Het
Ccdc180 A G 4: 45,914,443 (GRCm39) S653G probably benign Het
Clic6 T C 16: 92,293,949 (GRCm39) probably benign Het
Fras1 T A 5: 96,925,947 (GRCm39) L3717Q probably damaging Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Gtf2f1 G T 17: 57,311,534 (GRCm39) P292H probably benign Het
Hcn1 A T 13: 118,112,249 (GRCm39) T738S unknown Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmbs A G 9: 44,250,834 (GRCm39) S130P probably damaging Het
Kif1b A T 4: 149,283,768 (GRCm39) I1299N probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc17 A T 5: 137,175,502 (GRCm39) L56Q probably damaging Het
Myd88 G A 9: 119,167,175 (GRCm39) probably null Het
Nol6 G A 4: 41,121,788 (GRCm39) R249W probably damaging Het
Or4g17 C T 2: 111,209,927 (GRCm39) T194I probably benign Het
Pcdhb1 T C 18: 37,398,802 (GRCm39) V251A possibly damaging Het
Prkcd A G 14: 30,320,722 (GRCm39) S633P probably benign Het
Rarb T C 14: 16,574,875 (GRCm38) H47R possibly damaging Het
Slc16a14 A G 1: 84,885,003 (GRCm39) V512A possibly damaging Het
Slc34a3 C T 2: 25,119,473 (GRCm39) V466M possibly damaging Het
Stat3 A G 11: 100,784,056 (GRCm39) S623P probably damaging Het
Vmn2r16 T G 5: 109,478,280 (GRCm39) S12A probably benign Het
Zfhx4 C G 3: 5,468,464 (GRCm39) P2874R probably damaging Het
Zfp3 T C 11: 70,662,181 (GRCm39) S47P probably benign Het
Zfp791 T C 8: 85,836,514 (GRCm39) E450G possibly damaging Het
Other mutations in Art1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:Art1 APN 7 101,759,955 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- CAGAAGCTGTAGTTCCTCCATCC -3'
(R):5'- CCCCAAATACATCTGGAGGG -3'

Sequencing Primer
(F):5'- CCTTTGTCCACATGGCAGATGG -3'
(R):5'- TGCAAGCTCCCCAAGACTGG -3'
Posted On 2015-10-08