Incidental Mutation 'R0011:Art3'
ID8138
Institutional Source Beutler Lab
Gene Symbol Art3
Ensembl Gene ENSMUSG00000034842
Gene NameADP-ribosyltransferase 3
Synonyms4930569O04Rik
MMRRC Submission 038306-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #R0011 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location92331827-92414628 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92403612 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 17 (Y17N)
Ref Sequence ENSEMBL: ENSMUSP00000114826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113083] [ENSMUST00000117108] [ENSMUST00000118106] [ENSMUST00000119587] [ENSMUST00000120193] [ENSMUST00000120416] [ENSMUST00000121096] [ENSMUST00000152041]
Predicted Effect probably benign
Transcript: ENSMUST00000113083
AA Change: Y277N

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842
AA Change: Y277N

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 4.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117108
AA Change: Y277N

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842
AA Change: Y277N

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 1.9e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118106
AA Change: Y277N

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842
AA Change: Y277N

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 probably benign
Transcript: ENSMUST00000119587
SMART Domains Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 4e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120193
AA Change: Y277N

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842
AA Change: Y277N

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 probably benign
Transcript: ENSMUST00000120416
AA Change: Y277N

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
AA Change: Y277N

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 benign
Transcript: ENSMUST00000121096
AA Change: Y277N

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842
AA Change: Y277N

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ART 29 251 1.8e-65 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000126281
AA Change: Y215N
SMART Domains Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842
AA Change: Y215N

DomainStartEndE-ValueType
Pfam:ART 1 190 3e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129222
Predicted Effect unknown
Transcript: ENSMUST00000138003
AA Change: Y57N
Predicted Effect probably damaging
Transcript: ENSMUST00000152041
AA Change: Y17N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.3359 question?
Coding Region Coverage
  • 1x: 78.3%
  • 3x: 67.8%
  • 10x: 41.6%
  • 20x: 22.3%
Validation Efficiency 92% (85/92)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,229,993 L389Q probably damaging Het
Ank3 A G 10: 69,979,451 probably benign Het
Asic3 C T 5: 24,417,492 probably benign Het
Brip1 C A 11: 86,186,998 K201N possibly damaging Het
Casc1 T A 6: 145,179,055 M515L probably damaging Het
Ccdc88a T C 11: 29,374,364 F6S probably damaging Het
Cfap54 A T 10: 93,065,225 C156S probably damaging Het
Chia1 A G 3: 106,130,974 probably benign Het
Cops4 C A 5: 100,527,981 Q28K probably benign Het
Epha7 G A 4: 28,962,564 D961N probably benign Het
Grin2c T C 11: 115,255,750 Y476C probably damaging Het
Igf2bp1 T C 11: 96,005,584 D17G probably damaging Het
Kidins220 T A 12: 24,999,352 V322E probably damaging Het
Krt35 T A 11: 100,093,676 Q331L probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mrc1 T C 2: 14,261,337 probably null Het
Msh2 T C 17: 87,680,093 probably benign Het
Ncoa1 A C 12: 4,322,896 F57L possibly damaging Het
Npy4r C T 14: 34,146,723 V203M probably damaging Het
Pcdhgb8 T C 18: 37,764,282 S802P probably benign Het
Ralgapa1 A G 12: 55,786,263 S152P probably damaging Het
Rasgef1b T C 5: 99,232,354 Y344C probably damaging Het
Rdh19 T A 10: 127,856,911 L149Q probably damaging Het
Shtn1 A G 19: 59,032,218 S191P possibly damaging Het
Tmem202 T A 9: 59,524,801 N81I probably benign Het
Trim58 A T 11: 58,643,120 T167S probably benign Het
Trp53i11 A T 2: 93,199,353 probably benign Het
Ttc30a2 T A 2: 75,976,217 R650S probably damaging Het
Ttn T C 2: 76,810,355 H5356R probably damaging Het
Tyrp1 C T 4: 80,840,793 T301I probably damaging Het
Wdr17 A T 8: 54,672,501 I448K possibly damaging Het
Wscd1 T C 11: 71,788,828 V509A probably damaging Het
Zfp251 A G 15: 76,854,554 V108A probably benign Het
Other mutations in Art3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01526:Art3 APN 5 92414340 missense probably damaging 0.99
IGL01674:Art3 APN 5 92403614 nonsense probably null
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
Z1177:Art3 UTSW 5 92412206 missense not run
Posted On2012-11-20