Incidental Mutation 'IGL02726:Art1'
ID305199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Art1
Ensembl Gene ENSMUSG00000030996
Gene NameADP-ribosyltransferase 1
SynonymsADPRT, Yac-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02726
Quality Score
Status
Chromosome7
Chromosomal Location102101743-102113933 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 102110748 bp
ZygosityHeterozygous
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]
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
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Art1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03238:Art1 APN 7 102110749 missense possibly damaging 0.46
R0885:Art1 UTSW 7 102107334 missense probably damaging 1.00
R1343:Art1 UTSW 7 102106953 missense probably damaging 1.00
R1348:Art1 UTSW 7 102107372 missense possibly damaging 0.55
R2167:Art1 UTSW 7 102106824 missense probably damaging 0.99
R4637:Art1 UTSW 7 102106337 missense probably damaging 0.96
R4821:Art1 UTSW 7 102107178 missense probably damaging 1.00
R5629:Art1 UTSW 7 102107079 missense probably benign 0.07
R6150:Art1 UTSW 7 102107087 missense probably benign
R6936:Art1 UTSW 7 102106770 missense possibly damaging 0.58
R7304:Art1 UTSW 7 102106324 missense possibly damaging 0.56
Posted On2015-04-16