Incidental Mutation 'IGL01526:Art3'
ID89553
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Art3
Ensembl Gene ENSMUSG00000034842
Gene NameADP-ribosyltransferase 3
Synonyms4930569O04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01526
Quality Score
Status
Chromosome5
Chromosomal Location92331827-92414628 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92414340 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 354 (S354P)
Ref Sequence ENSEMBL: ENSMUSP00000108706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038514] [ENSMUST00000113083] [ENSMUST00000117108] [ENSMUST00000118106] [ENSMUST00000119587] [ENSMUST00000120193] [ENSMUST00000120416] [ENSMUST00000121096] [ENSMUST00000152041]
Predicted Effect probably benign
Transcript: ENSMUST00000038514
SMART Domains Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826

DomainStartEndE-ValueType
low complexity region 5 109 N/A INTRINSIC
Pfam:Nup54 303 441 4.8e-49 PFAM
PDB:3T98|C 445 494 2e-26 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000113083
AA Change: S354P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842
AA Change: S354P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 4.4e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117108
AA Change: S376P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842
AA Change: S376P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 1.9e-65 PFAM
Predicted Effect silent
Transcript: ENSMUST00000118106
SMART Domains Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 9e-66 PFAM
low complexity region 298 309 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119587
AA Change: S343P

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842
AA Change: S343P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 4e-65 PFAM
Predicted Effect silent
Transcript: ENSMUST00000120193
SMART Domains Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 8.4e-66 PFAM
low complexity region 298 309 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000120416
AA Change: F399S
SMART Domains Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
AA Change: F399S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 3.1e-65 PFAM
low complexity region 298 309 N/A INTRINSIC
low complexity region 366 373 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121096
AA Change: S366P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842
AA Change: S366P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 1.8e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123694
Predicted Effect unknown
Transcript: ENSMUST00000126281
AA Change: S302P
SMART Domains Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842
AA Change: S302P

DomainStartEndE-ValueType
Pfam:ART 1 190 3e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129222
Predicted Effect unknown
Transcript: ENSMUST00000138003
AA Change: S134P
Predicted Effect probably benign
Transcript: ENSMUST00000152041
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 an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Art3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Art3 APN 5 92403614 nonsense probably null
R0011:Art3 UTSW 5 92403612 missense probably damaging 0.99
R0011:Art3 UTSW 5 92403612 missense probably damaging 0.99
R1861:Art3 UTSW 5 92412235 intron probably benign
R4131:Art3 UTSW 5 92392562 missense probably benign 0.01
R4726:Art3 UTSW 5 92411143 missense probably benign 0.10
R4810:Art3 UTSW 5 92414249 missense possibly damaging 0.84
R4959:Art3 UTSW 5 92403619 missense probably damaging 1.00
R4973:Art3 UTSW 5 92403619 missense probably damaging 1.00
R5592:Art3 UTSW 5 92392820 missense probably damaging 1.00
R5678:Art3 UTSW 5 92392550 missense probably damaging 0.99
R5813:Art3 UTSW 5 92412241 utr 3 prime probably benign
R5924:Art3 UTSW 5 92412232 intron probably benign
R6480:Art3 UTSW 5 92392817 missense probably damaging 1.00
R7452:Art3 UTSW 5 92392680 missense probably damaging 1.00
R7549:Art3 UTSW 5 92403655 missense probably benign 0.01
R7772:Art3 UTSW 5 92403613 missense probably damaging 0.99
R7947:Art3 UTSW 5 92392500 missense possibly damaging 0.88
Z1177:Art3 UTSW 5 92412206 missense unknown
Posted On2013-12-03