Incidental Mutation 'R7466:Art4'
ID 578769
Institutional Source Beutler Lab
Gene Symbol Art4
Ensembl Gene ENSMUSG00000030217
Gene Name ADP-ribosyltransferase 4
Synonyms DO, 4432404K01Rik, DOK1
MMRRC Submission 045540-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7466 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 136848451-136857733 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 136854850 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 98 (H98N)
Ref Sequence ENSEMBL: ENSMUSP00000032341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032341]
AlphaFold Q9CRA0
Predicted Effect probably damaging
Transcript: ENSMUST00000032341
AA Change: H98N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032341
Gene: ENSMUSG00000030217
AA Change: H98N

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: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T A 2: 35,088,741 (GRCm38) K203* probably null Het
Akr1c13 T C 13: 4,192,437 (GRCm38) probably benign Het
Amer3 A G 1: 34,587,993 (GRCm38) S438G probably damaging Het
Aqp9 T A 9: 71,163,261 (GRCm38) probably null Het
Bdh1 T C 16: 31,447,604 (GRCm38) S70P probably benign Het
Ccdc61 A C 7: 18,891,105 (GRCm38) Y503D probably damaging Het
Cd180 A T 13: 102,704,995 (GRCm38) N183I probably damaging Het
Cd200r2 C T 16: 44,909,174 (GRCm38) A64V probably damaging Het
Ceacam9 A C 7: 16,723,855 (GRCm38) K98Q probably benign Het
Cep44 AACGC A 8: 56,540,983 (GRCm38) probably null Het
Cfap77 G T 2: 28,955,613 (GRCm38) D247E probably benign Het
Cftr T C 6: 18,227,973 (GRCm38) M388T probably benign Het
Chrnb1 G A 11: 69,784,650 (GRCm38) H493Y probably damaging Het
Ckap2 A C 8: 22,177,386 (GRCm38) M153R probably benign Het
Cnot6l A G 5: 96,131,128 (GRCm38) V77A probably benign Het
Col12a1 C T 9: 79,655,407 (GRCm38) E1798K possibly damaging Het
Cth T A 3: 157,924,885 (GRCm38) D49V probably benign Het
Ctnnb1 T C 9: 120,955,416 (GRCm38) S425P probably damaging Het
Ctnnd1 T C 2: 84,610,785 (GRCm38) N690S probably benign Het
Dennd4c A G 4: 86,774,331 (GRCm38) D26G probably damaging Het
Dlg5 G A 14: 24,245,212 (GRCm38) P80L probably damaging Het
Dnai3 T C 3: 146,055,618 (GRCm38) D661G probably benign Het
Eef2k A G 7: 120,903,484 (GRCm38) probably null Het
Ephb2 C T 4: 136,659,065 (GRCm38) R791H probably damaging Het
Erh T C 12: 80,640,983 (GRCm38) Y22C probably benign Het
F5 C T 1: 164,193,328 (GRCm38) T1124I possibly damaging Het
Fam220a T A 5: 143,563,471 (GRCm38) C213S possibly damaging Het
Fat2 G T 11: 55,310,432 (GRCm38) N605K probably damaging Het
Ganab C A 19: 8,914,569 (GRCm38) S780* probably null Het
Gbgt1 C T 2: 28,502,207 (GRCm38) P67S probably damaging Het
Gm17190 G T 13: 96,082,779 (GRCm38) G208* probably null Het
Grhl2 A G 15: 37,291,616 (GRCm38) Y316C probably damaging Het
H2-T10 T C 17: 36,120,849 (GRCm38) T38A probably benign Het
Ins1 A G 19: 52,264,420 (GRCm38) probably benign Het
Ippk T C 13: 49,432,467 (GRCm38) probably null Het
Klc4 T A 17: 46,639,910 (GRCm38) I258F probably benign Het
Manba C A 3: 135,542,393 (GRCm38) L348I probably benign Het
Mgam A G 6: 40,744,789 (GRCm38) N347S probably benign Het
Myo18b T C 5: 112,723,892 (GRCm38) T2108A probably benign Het
Naip5 A T 13: 100,221,986 (GRCm38) L914* probably null Het
Nsa2 C T 13: 97,131,220 (GRCm38) A242T probably benign Het
Nsd2 G A 5: 33,882,147 (GRCm38) W834* probably null Het
Or10q3 T A 19: 11,870,316 (GRCm38) D300V possibly damaging Het
Or5p50 A T 7: 107,822,922 (GRCm38) C182* probably null Het
Or5w1 T C 2: 87,656,396 (GRCm38) N175S possibly damaging Het
Or8s16 T C 15: 98,313,380 (GRCm38) M57V probably damaging Het
Pam A T 1: 97,842,247 (GRCm38) D599E probably damaging Het
Phf20l1 A G 15: 66,636,884 (GRCm38) K864R probably damaging Het
Pip4p2 T A 4: 14,912,477 (GRCm38) Y195* probably null Het
Plcl2 A G 17: 50,608,468 (GRCm38) D835G probably damaging Het
Ppm1m C A 9: 106,196,157 (GRCm38) A329S probably damaging Het
Prep T C 10: 45,150,438 (GRCm38) V486A probably benign Het
Prkcb A T 7: 122,516,844 (GRCm38) N182I probably damaging Het
Prkcz A G 4: 155,271,602 (GRCm38) F355S probably damaging Het
Psg20 C T 7: 18,684,467 (GRCm38) S125N probably benign Het
Psmd12 A G 11: 107,492,057 (GRCm38) D234G probably benign Het
Pvrig A T 5: 138,342,008 (GRCm38) M14L probably benign Het
Rabgap1l C T 1: 160,226,484 (GRCm38) probably null Het
Rfc1 A T 5: 65,275,426 (GRCm38) C764S probably damaging Het
Ryr3 T C 2: 112,926,957 (GRCm38) D351G probably benign Het
Scart1 T C 7: 140,220,706 (GRCm38) probably null Het
Serpinb9g T C 13: 33,495,167 (GRCm38) F340S probably benign Het
Sirpb1c C A 3: 15,832,266 (GRCm38) L315F probably damaging Het
Slc24a1 C G 9: 64,928,404 (GRCm38) E814Q unknown Het
Slc26a11 A T 11: 119,374,502 (GRCm38) Q355L probably damaging Het
Sp100 C T 1: 85,707,239 (GRCm38) L483F possibly damaging Het
St5 A G 7: 109,525,346 (GRCm38) L1096P probably damaging Het
Ston1 T A 17: 88,635,901 (GRCm38) M245K probably benign Het
Swap70 T A 7: 110,274,772 (GRCm38) D442E probably benign Het
Syne2 T A 12: 76,046,186 (GRCm38) V450D possibly damaging Het
Tbck T A 3: 132,752,563 (GRCm38) N651K probably damaging Het
Timd4 A T 11: 46,817,758 (GRCm38) T204S probably benign Het
Tmem102 A G 11: 69,804,885 (GRCm38) L87P probably damaging Het
Tmprss11e T A 5: 86,709,480 (GRCm38) T325S probably benign Het
Trpm1 G A 7: 64,240,582 (GRCm38) V978M probably damaging Het
Wdr12 A T 1: 60,094,511 (GRCm38) D19E probably benign Het
Wdr35 G A 12: 9,005,773 (GRCm38) V482I probably benign Het
Zer1 T C 2: 30,101,484 (GRCm38) probably null Het
Zfp503 T C 14: 21,986,011 (GRCm38) D279G probably benign Het
Zfp870 A T 17: 32,883,762 (GRCm38) C198S possibly damaging Het
Zftraf1 C T 15: 76,648,186 (GRCm38) D241N probably benign Het
Zfyve26 C T 12: 79,287,807 (GRCm38) E146K probably benign Het
Zkscan6 T C 11: 65,828,531 (GRCm38) V459A probably damaging Het
Other mutations in Art4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Art4 APN 6 136,854,495 (GRCm38) missense probably damaging 0.99
IGL00952:Art4 APN 6 136,854,820 (GRCm38) missense possibly damaging 0.67
R1330:Art4 UTSW 6 136,854,341 (GRCm38) splice site probably benign
R4591:Art4 UTSW 6 136,854,757 (GRCm38) missense probably damaging 1.00
R6114:Art4 UTSW 6 136,857,213 (GRCm38) missense unknown
R6265:Art4 UTSW 6 136,854,888 (GRCm38) missense probably damaging 0.96
R7176:Art4 UTSW 6 136,857,168 (GRCm38) missense probably benign 0.41
R7201:Art4 UTSW 6 136,854,549 (GRCm38) missense probably benign 0.00
R7514:Art4 UTSW 6 136,854,741 (GRCm38) missense probably benign 0.15
R7567:Art4 UTSW 6 136,854,430 (GRCm38) missense possibly damaging 0.83
R8519:Art4 UTSW 6 136,854,351 (GRCm38) critical splice donor site probably null
R9095:Art4 UTSW 6 136,857,271 (GRCm38) start gained probably benign
R9226:Art4 UTSW 6 136,854,367 (GRCm38) missense probably damaging 1.00
R9511:Art4 UTSW 6 136,854,615 (GRCm38) missense possibly damaging 0.87
Z1177:Art4 UTSW 6 136,849,583 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-07