Incidental Mutation 'R7176:Art4'
ID 558617
Institutional Source Beutler Lab
Gene Symbol Art4
Ensembl Gene ENSMUSG00000030217
Gene Name ADP-ribosyltransferase 4
Synonyms 4432404K01Rik, DO, DOK1
MMRRC Submission 045267-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7176 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 136825449-136834598 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 136834166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 26 (T26P)
Ref Sequence ENSEMBL: ENSMUSP00000032341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032341]
AlphaFold Q9CRA0
Predicted Effect probably benign
Transcript: ENSMUST00000032341
AA Change: T26P

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032341
Gene: ENSMUSG00000030217
AA Change: T26P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ART 34 256 8.7e-51 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G T 17: 46,635,203 (GRCm39) H267N probably benign Het
Abtb2 A G 2: 103,539,720 (GRCm39) D695G probably benign Het
Adam21 C T 12: 81,607,022 (GRCm39) D247N possibly damaging Het
Adnp T C 2: 168,024,578 (GRCm39) N906D probably benign Het
Ankrd17 A T 5: 90,416,594 (GRCm39) H1079Q probably damaging Het
Aqp3 T A 4: 41,095,202 (GRCm39) N60Y probably damaging Het
Arvcf T C 16: 18,218,477 (GRCm39) L553P probably damaging Het
Asxl1 T A 2: 153,243,908 (GRCm39) I1487N probably damaging Het
Capn3 A T 2: 120,334,973 (GRCm39) Y820F possibly damaging Het
Catip A G 1: 74,401,941 (GRCm39) T39A probably damaging Het
Ccdc168 A T 1: 44,099,506 (GRCm39) S531T probably benign Het
Ccdc18 T A 5: 108,315,972 (GRCm39) C481S probably benign Het
Ccnf A G 17: 24,468,376 (GRCm39) I7T possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdkl4 A T 17: 80,851,221 (GRCm39) Y160* probably null Het
Celsr3 C T 9: 108,722,961 (GRCm39) P2783S probably benign Het
Cisd3 A T 11: 97,576,959 (GRCm39) D11V probably benign Het
Daxx A T 17: 34,132,292 (GRCm39) H512L unknown Het
Dip2b A G 15: 100,067,199 (GRCm39) H567R probably damaging Het
Dnah7c C A 1: 46,469,969 (GRCm39) A18E probably benign Het
Eif3d A T 15: 77,847,434 (GRCm39) V268D probably damaging Het
Eif4g3 T A 4: 137,898,497 (GRCm39) H1089Q probably damaging Het
Fmnl2 A G 2: 53,004,162 (GRCm39) M625V unknown Het
Foxn1 T C 11: 78,251,693 (GRCm39) R513G possibly damaging Het
Gemin5 C T 11: 58,056,828 (GRCm39) V134I probably benign Het
Gtf2h3 A G 5: 124,728,433 (GRCm39) R161G probably damaging Het
Ice1 A G 13: 70,772,525 (GRCm39) probably null Het
Il1rl1 T C 1: 40,485,766 (GRCm39) Y306H probably damaging Het
Kbtbd7 A T 14: 79,665,194 (GRCm39) E342V possibly damaging Het
Kyat3 A T 3: 142,443,600 (GRCm39) K404N possibly damaging Het
Lins1 T C 7: 66,363,553 (GRCm39) W483R probably benign Het
Lipo2 A G 19: 33,723,207 (GRCm39) I194T possibly damaging Het
Mcm8 G T 2: 132,661,992 (GRCm39) A137S probably benign Het
Mdm1 C A 10: 117,978,770 (GRCm39) Q12K probably damaging Het
Mrgprb5 C A 7: 47,818,059 (GRCm39) L225F possibly damaging Het
Myh11 T A 16: 14,033,690 (GRCm39) H1068L Het
Ngef A T 1: 87,408,417 (GRCm39) V550E possibly damaging Het
Nrg1 G A 8: 32,458,064 (GRCm39) Q84* probably null Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Ocln C A 13: 100,651,590 (GRCm39) G327C probably damaging Het
Ocln A C 13: 100,651,591 (GRCm39) N326K probably benign Het
Or10ag55-ps1 C T 2: 87,115,378 (GRCm39) A248V probably damaging Het
Otogl T C 10: 107,614,772 (GRCm39) D1960G probably damaging Het
Pik3c2a T C 7: 115,987,331 (GRCm39) D530G possibly damaging Het
Plod1 A T 4: 147,997,744 (GRCm39) M655K probably benign Het
Ppp4r3b A G 11: 29,148,904 (GRCm39) N449D probably damaging Het
Ppp6r3 G T 19: 3,521,989 (GRCm39) T563K probably damaging Het
Prepl T A 17: 85,376,454 (GRCm39) L533F probably benign Het
Rbl1 G A 2: 157,030,245 (GRCm39) R421W probably damaging Het
Rrp15 G A 1: 186,453,730 (GRCm39) S239L probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 A G 5: 124,530,944 (GRCm39) S815P probably benign Het
Scn7a G A 2: 66,506,632 (GRCm39) T1419I probably damaging Het
Setdb1 A G 3: 95,244,458 (GRCm39) probably null Het
Shpk A G 11: 73,113,814 (GRCm39) H409R probably benign Het
Slamf6 A C 1: 171,761,858 (GRCm39) N93T probably benign Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc35g1 T A 19: 38,391,771 (GRCm39) V351E probably damaging Het
Smcr8 A T 11: 60,669,772 (GRCm39) I307F probably damaging Het
Spats2l T C 1: 57,977,077 (GRCm39) I305T possibly damaging Het
Speer4c1 T C 5: 15,916,536 (GRCm39) T144A probably benign Het
Tbl3 G A 17: 24,919,732 (GRCm39) T774I probably benign Het
Ush2a A G 1: 188,269,925 (GRCm39) H1724R probably benign Het
Vcan A G 13: 89,837,055 (GRCm39) S2830P probably benign Het
Vmn2r27 T A 6: 124,168,995 (GRCm39) I712F probably benign Het
Wdr59 T G 8: 112,219,388 (GRCm39) Q223P Het
Zfp28 T A 7: 6,386,456 (GRCm39) C22S possibly damaging Het
Zfp536 T G 7: 37,180,276 (GRCm39) probably null Het
Other mutations in Art4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Art4 APN 6 136,831,493 (GRCm39) missense probably damaging 0.99
IGL00952:Art4 APN 6 136,831,818 (GRCm39) missense possibly damaging 0.67
R1330:Art4 UTSW 6 136,831,339 (GRCm39) splice site probably benign
R4591:Art4 UTSW 6 136,831,755 (GRCm39) missense probably damaging 1.00
R6114:Art4 UTSW 6 136,834,211 (GRCm39) missense unknown
R6265:Art4 UTSW 6 136,831,886 (GRCm39) missense probably damaging 0.96
R7201:Art4 UTSW 6 136,831,547 (GRCm39) missense probably benign 0.00
R7466:Art4 UTSW 6 136,831,848 (GRCm39) missense probably damaging 1.00
R7514:Art4 UTSW 6 136,831,739 (GRCm39) missense probably benign 0.15
R7567:Art4 UTSW 6 136,831,428 (GRCm39) missense possibly damaging 0.83
R8519:Art4 UTSW 6 136,831,349 (GRCm39) critical splice donor site probably null
R9095:Art4 UTSW 6 136,834,269 (GRCm39) start gained probably benign
R9226:Art4 UTSW 6 136,831,365 (GRCm39) missense probably damaging 1.00
R9511:Art4 UTSW 6 136,831,613 (GRCm39) missense possibly damaging 0.87
Z1177:Art4 UTSW 6 136,826,581 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGGCACTCACATCAATTATGCC -3'
(R):5'- CTAGAGCGTATTCTGGGACG -3'

Sequencing Primer
(F):5'- CACATCAATTATGCCAGATTTATGAC -3'
(R):5'- CTGGGACGAGGCTTTCAG -3'
Posted On 2019-06-26