Incidental Mutation 'R8183:Art1'
ID 634730
Institutional Source Beutler Lab
Gene Symbol Art1
Ensembl Gene ENSMUSG00000030996
Gene Name ADP-ribosyltransferase 1
Synonyms Yac-1, ADPRT
MMRRC Submission 067781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8183 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101750950-101763140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101756633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 275 (I275F)
Ref Sequence ENSEMBL: ENSMUSP00000033300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084830] [ENSMUST00000094128] [ENSMUST00000209809] [ENSMUST00000210211]
AlphaFold Q60935
Predicted Effect probably damaging
Transcript: ENSMUST00000033300
AA Change: I275F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996
AA Change: I275F

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: I275F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000210211
AA Change: I51F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T A 15: 72,991,337 (GRCm39) K534* probably null Het
Atp1a2 T C 1: 172,116,918 (GRCm39) N233S probably damaging Het
B3gnt2 T A 11: 22,786,373 (GRCm39) I272L probably benign Het
Bpifa1 A G 2: 153,988,039 (GRCm39) Q194R possibly damaging Het
Cand2 A G 6: 115,768,879 (GRCm39) E563G probably benign Het
Clns1a A G 7: 97,354,888 (GRCm39) Y78C probably damaging Het
Col20a1 T C 2: 180,640,207 (GRCm39) V483A Het
Col3a1 C G 1: 45,373,970 (GRCm39) P621R unknown Het
Cst9 G A 2: 148,678,634 (GRCm39) R88H possibly damaging Het
Cxxc1 T C 18: 74,353,428 (GRCm39) Y513H probably damaging Het
Dcdc2a T C 13: 25,291,633 (GRCm39) F206S possibly damaging Het
Dgkz C A 2: 91,769,937 (GRCm39) G576C probably damaging Het
Dpy19l3 A G 7: 35,394,814 (GRCm39) F575L probably damaging Het
Ftcd T A 10: 76,411,541 (GRCm39) M1K probably null Het
Gtf2ird1 T C 5: 134,386,689 (GRCm39) D1044G unknown Het
Gzmc A T 14: 56,470,164 (GRCm39) M111K probably damaging Het
Hpse T A 5: 100,832,984 (GRCm39) Y437F probably damaging Het
Ifi203 A G 1: 173,756,266 (GRCm39) S506P unknown Het
Igsf10 A T 3: 59,238,036 (GRCm39) I715K probably benign Het
Ints9 T C 14: 65,273,902 (GRCm39) V569A probably damaging Het
Itih3 A G 14: 30,631,433 (GRCm39) F821S probably benign Het
Kcnh7 T C 2: 62,533,321 (GRCm39) H1186R probably damaging Het
Krt33a A G 11: 99,905,575 (GRCm39) probably null Het
Lonrf1 A T 8: 36,689,819 (GRCm39) M718K possibly damaging Het
Mefv C T 16: 3,526,446 (GRCm39) R756K possibly damaging Het
Metap1d T A 2: 71,337,207 (GRCm39) F40Y possibly damaging Het
Myh1 A T 11: 67,092,832 (GRCm39) D42V possibly damaging Het
Myo15b T G 11: 115,773,843 (GRCm39) probably null Het
Nsd1 T C 13: 55,460,186 (GRCm39) S2241P probably damaging Het
Or10q12 T A 19: 13,746,086 (GRCm39) Y127N probably damaging Het
Osbpl3 C A 6: 50,280,089 (GRCm39) R710L probably benign Het
Osbpl6 C T 2: 76,415,404 (GRCm39) R589C probably damaging Het
Pam T C 1: 97,762,199 (GRCm39) T795A probably benign Het
Patj A C 4: 98,562,466 (GRCm39) E1534D probably damaging Het
Plscr5 A G 9: 92,080,655 (GRCm39) Q47R probably benign Het
Ppil1 A T 17: 29,481,053 (GRCm39) probably null Het
Sec23b G T 2: 144,401,189 (GRCm39) V17L probably benign Het
Serpina3j C A 12: 104,284,754 (GRCm39) Y310* probably null Het
Slc6a7 T C 18: 61,140,448 (GRCm39) S195G probably null Het
Snrpn A G 7: 59,634,830 (GRCm39) Y168H probably damaging Het
Tmprss15 T C 16: 78,884,400 (GRCm39) D94G probably benign Het
Tnpo3 A T 6: 29,558,758 (GRCm39) M724K probably damaging Het
Trappc11 T G 8: 47,982,391 (GRCm39) E116A possibly damaging Het
Trpc6 T C 9: 8,653,150 (GRCm39) F652S possibly damaging Het
Trrap T G 5: 144,765,343 (GRCm39) S2501A probably benign Het
Ubr4 T G 4: 139,209,782 (GRCm39) S5005A unknown Het
Urah A T 7: 140,416,707 (GRCm39) Q60L probably benign Het
Vmn2r28 A T 7: 5,491,147 (GRCm39) C367S probably damaging Het
Zmym1 T C 4: 126,952,649 (GRCm39) D44G probably benign 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
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
Z1186:Art1 UTSW 7 101,756,066 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGCGAGGACACCTTCTTC -3'
(R):5'- GAATCAAGAGTAGCCTCAGCCTG -3'

Sequencing Primer
(F):5'- GAGGACACCTTCTTCGGTATCTG -3'
(R):5'- TAGCCTCAGCCTGGGATTACAG -3'
Posted On 2020-07-13