Incidental Mutation 'IGL00790:Art4'
ID9070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Art4
Ensembl Gene ENSMUSG00000030217
Gene NameADP-ribosyltransferase 4
SynonymsDO, 4432404K01Rik, DOK1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00790
Quality Score
Status
Chromosome6
Chromosomal Location136848451-136857733 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 136854495 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 216 (Q216L)
Ref Sequence ENSEMBL: ENSMUSP00000032341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032341]
Predicted Effect probably damaging
Transcript: ENSMUST00000032341
AA Change: Q216L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032341
Gene: ENSMUSG00000030217
AA Change: Q216L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ART 34 256 8.7e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik A G 17: 33,067,387 V147A probably damaging Het
AC139131.1 T G 7: 12,494,232 M702R probably damaging Het
Ankrd12 A T 17: 65,984,180 N1419K probably benign Het
Arhgef18 A G 8: 3,429,553 E79G probably damaging Het
Bbs4 T C 9: 59,324,065 D407G probably benign Het
Cherp A G 8: 72,468,246 I277T probably damaging Het
Cnot2 A G 10: 116,507,071 M119T probably benign Het
Disp2 T A 2: 118,786,278 C73S probably damaging Het
Dock4 T C 12: 40,834,391 S1686P probably damaging Het
Dsc1 C T 18: 20,094,896 G468S probably damaging Het
Duox2 T A 2: 122,292,300 D551V possibly damaging Het
Gmip T A 8: 69,817,011 Y585* probably null Het
Gnal A G 18: 67,134,289 probably null Het
Idh1 T G 1: 65,166,122 Q228P possibly damaging Het
Igsf10 A T 3: 59,319,517 I2245N probably damaging Het
Mrgpra4 A T 7: 47,981,304 M183K possibly damaging Het
Npr2 T A 4: 43,641,612 V472D possibly damaging Het
Pcdh7 A T 5: 57,721,464 N787I probably damaging Het
Ppp1r10 A T 17: 35,924,859 N111I probably damaging Het
Ppp3ca A G 3: 136,935,181 N508D probably benign Het
Rgs17 A G 10: 5,862,624 Q25P possibly damaging Het
Slco6d1 T A 1: 98,421,200 probably benign Het
Tab3 T A X: 85,621,604 N591K probably damaging Het
Tfcp2 T C 15: 100,513,178 probably benign Het
Them5 A T 3: 94,343,409 D93V probably damaging Het
Thoc5 T G 11: 4,918,147 V275G probably damaging Het
Trmt1l T C 1: 151,442,712 probably null Het
Zdbf2 G T 1: 63,306,514 V1351F possibly damaging Het
Zfp14 G T 7: 30,038,887 Y224* probably null Het
Other mutations in Art4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Art4 APN 6 136854820 missense possibly damaging 0.67
R1330:Art4 UTSW 6 136854341 splice site probably benign
R4591:Art4 UTSW 6 136854757 missense probably damaging 1.00
R6114:Art4 UTSW 6 136857213 missense unknown
R6265:Art4 UTSW 6 136854888 missense probably damaging 0.96
R7176:Art4 UTSW 6 136857168 missense probably benign 0.41
R7201:Art4 UTSW 6 136854549 missense probably benign 0.00
R7466:Art4 UTSW 6 136854850 missense probably damaging 1.00
R7514:Art4 UTSW 6 136854741 missense probably benign 0.15
R7567:Art4 UTSW 6 136854430 missense possibly damaging 0.83
Z1177:Art4 UTSW 6 136849583 missense probably damaging 1.00
Posted On2012-12-06