Incidental Mutation 'IGL02142:Art5'
ID281621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Art5
Ensembl Gene ENSMUSG00000070424
Gene NameADP-ribosyltransferase 5
SynonymsYac-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02142
Quality Score
Status
Chromosome7
Chromosomal Location102096879-102109489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 102097916 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 121 (E121K)
Ref Sequence ENSEMBL: ENSMUSP00000102547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084843] [ENSMUST00000094128] [ENSMUST00000106934] [ENSMUST00000106935] [ENSMUST00000106937] [ENSMUST00000123372] [ENSMUST00000124189] [ENSMUST00000139104] [ENSMUST00000209809] [ENSMUST00000210211]
Predicted Effect probably benign
Transcript: ENSMUST00000033300
SMART Domains Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ART 39 269 2e-99 PFAM
low complexity region 288 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084843
SMART Domains Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 150 1.4e-54 PFAM
low complexity region 254 267 N/A INTRINSIC
low complexity region 275 280 N/A INTRINSIC
low complexity region 297 311 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
low complexity region 403 415 N/A INTRINSIC
low complexity region 416 428 N/A INTRINSIC
ANK 439 469 1.58e3 SMART
low complexity region 484 496 N/A INTRINSIC
ANK 522 551 1.74e0 SMART
Pfam:TRP_2 557 619 1e-24 PFAM
Pfam:Ion_trans 716 1024 1.7e-24 PFAM
Pfam:PKD_channel 774 1019 2.4e-12 PFAM
low complexity region 1070 1081 N/A INTRINSIC
low complexity region 1093 1104 N/A INTRINSIC
coiled coil region 1122 1162 N/A INTRINSIC
low complexity region 1220 1236 N/A INTRINSIC
low complexity region 1247 1263 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094128
AA Change: E219K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: E219K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ART 29 255 3.6e-96 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106934
AA Change: E121K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424
AA Change: E121K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ART 29 117 3.7e-29 PFAM
Pfam:ART 114 157 6.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106935
SMART Domains Protein: ENSMUSP00000102548
Gene: ENSMUSG00000070424

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ART 29 146 2.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106937
AA Change: E219K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: E219K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ART 29 255 1.9e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123372
SMART Domains Protein: ENSMUSP00000121068
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 152 5.2e-29 PFAM
low complexity region 254 267 N/A INTRINSIC
low complexity region 275 280 N/A INTRINSIC
low complexity region 297 311 N/A INTRINSIC
internal_repeat_1 324 345 2.69e-6 PROSPERO
low complexity region 346 379 N/A INTRINSIC
internal_repeat_1 380 401 2.69e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000124189
SMART Domains Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254

DomainStartEndE-ValueType
low complexity region 29 41 N/A INTRINSIC
low complexity region 42 54 N/A INTRINSIC
ANK 65 95 1.58e3 SMART
low complexity region 110 122 N/A INTRINSIC
ANK 148 177 1.74e0 SMART
Pfam:TRP_2 183 245 9.1e-29 PFAM
transmembrane domain 345 367 N/A INTRINSIC
Pfam:PKD_channel 398 645 1.4e-12 PFAM
Pfam:Ion_trans 422 638 1e-31 PFAM
low complexity region 696 707 N/A INTRINSIC
low complexity region 719 730 N/A INTRINSIC
coiled coil region 748 788 N/A INTRINSIC
low complexity region 846 862 N/A INTRINSIC
low complexity region 873 889 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139104
SMART Domains Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 62 3.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155078
SMART Domains Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 62 4.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209809
Predicted Effect probably benign
Transcript: ENSMUST00000210211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211553
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik G A 19: 11,110,331 Q79* probably null Het
Abca4 T C 3: 122,169,926 S2060P probably benign Het
Abcg4 A G 9: 44,277,717 F426S probably benign Het
Actn1 C T 12: 80,176,155 probably null Het
Adgrd1 T A 5: 129,131,584 H251Q probably benign Het
Adgrg3 C T 8: 95,039,855 P385S probably damaging Het
Ampd2 G T 3: 108,080,344 probably benign Het
Arhgap42 A G 9: 9,155,359 S86P probably damaging Het
Armc4 C A 18: 7,214,601 W733C probably damaging Het
Atad5 G A 11: 80,094,197 E37K probably benign Het
Atp13a5 A G 16: 29,234,563 V1084A probably benign Het
Cfap44 T C 16: 44,421,144 I626T probably benign Het
Col16a1 T A 4: 130,051,647 probably null Het
Defa22 T G 8: 21,163,114 C81G possibly damaging Het
Dnm2 A G 9: 21,500,353 Y622C probably damaging Het
Efna5 T A 17: 62,607,345 L201F unknown Het
Elac1 T C 18: 73,738,920 R335G probably benign Het
Enpp5 T C 17: 44,085,577 V460A probably benign Het
Esr2 A G 12: 76,123,195 V453A probably benign Het
Fam210b T A 2: 172,352,577 probably benign Het
Fcgr1 T C 3: 96,284,577 Y305C probably benign Het
Fcrlb A G 1: 170,908,679 V176A probably damaging Het
Gabrq T A X: 72,836,177 V256E possibly damaging Het
Gba T C 3: 89,205,841 L193P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Helq A G 5: 100,783,094 F597L probably benign Het
Hrh1 A T 6: 114,480,243 I162L probably damaging Het
Jph1 A T 1: 17,091,660 F259L probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Kdm4c T A 4: 74,307,016 probably null Het
Kif13a T C 13: 46,771,535 T308A probably benign Het
Lars C T 18: 42,227,280 V704M probably benign Het
Lcmt2 A G 2: 121,138,913 L343P possibly damaging Het
Lhfpl1 A G X: 145,340,737 F125L probably benign Het
Lmbrd2 C A 15: 9,186,685 D582E probably damaging Het
Lrrn2 T A 1: 132,939,245 S683T possibly damaging Het
Macf1 T C 4: 123,472,049 D1408G probably benign Het
Magi3 T C 3: 104,015,903 K1166R probably benign Het
March5 T C 19: 37,220,493 probably benign Het
Naa25 A G 5: 121,426,762 Q555R possibly damaging Het
Npat A G 9: 53,569,907 T1005A probably benign Het
Nt5c3 G A 6: 56,886,685 A108V probably damaging Het
Ocrl T A X: 47,936,118 M322K probably damaging Het
Olfr229 A G 9: 39,910,639 T279A possibly damaging Het
Psg23 A T 7: 18,610,420 V370E probably benign Het
Rassf2 A T 2: 131,996,433 M311K possibly damaging Het
Rhobtb3 A G 13: 75,877,495 Y501H probably damaging Het
Rpl4 A G 9: 64,176,206 D179G possibly damaging Het
Scn2a T A 2: 65,715,838 I915N probably damaging Het
Scn3a T A 2: 65,526,621 T160S possibly damaging Het
Slx4ip T G 2: 137,068,022 N242K possibly damaging Het
Spidr T A 16: 16,048,081 Q288L probably benign Het
Sun1 A T 5: 139,231,163 H255L possibly damaging Het
Tacc1 C T 8: 25,175,217 G51S probably damaging Het
Tet2 T A 3: 133,480,139 N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,062,592 Y349C probably damaging Het
Tnrc6a T C 7: 123,152,191 probably benign Het
Trim32 T C 4: 65,614,499 L431P probably damaging Het
Vmn1r35 A G 6: 66,679,350 L112S probably damaging Het
Vmn2r100 A C 17: 19,522,321 H319P probably damaging Het
Wdr20rt A G 12: 65,227,265 T328A probably benign Het
Zbtb17 T C 4: 141,464,982 Y413H probably benign Het
Other mutations in Art5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02507:Art5 APN 7 102099492 start codon destroyed probably null 0.83
IGL03143:Art5 APN 7 102097897 missense probably damaging 1.00
R0632:Art5 UTSW 7 102097957 missense probably damaging 1.00
R1215:Art5 UTSW 7 102097909 missense probably damaging 0.99
R2151:Art5 UTSW 7 102098200 missense possibly damaging 0.71
R2152:Art5 UTSW 7 102098200 missense possibly damaging 0.71
R2153:Art5 UTSW 7 102098200 missense possibly damaging 0.71
R4533:Art5 UTSW 7 102098338 missense probably benign
R4719:Art5 UTSW 7 102098494 unclassified probably null
R5042:Art5 UTSW 7 102099465 missense probably damaging 0.99
R5098:Art5 UTSW 7 102097970 missense probably damaging 0.98
R5341:Art5 UTSW 7 102098099 missense probably benign 0.01
R6037:Art5 UTSW 7 102098384 missense probably benign 0.01
R6037:Art5 UTSW 7 102098384 missense probably benign 0.01
R6262:Art5 UTSW 7 102098131 missense probably benign 0.00
R6850:Art5 UTSW 7 102098095 missense possibly damaging 0.60
R7186:Art5 UTSW 7 102097329 missense probably benign
R7270:Art5 UTSW 7 102097873 missense probably damaging 1.00
R7381:Art5 UTSW 7 102098170 missense probably damaging 1.00
R7729:Art5 UTSW 7 102098504 missense possibly damaging 0.51
X0061:Art5 UTSW 7 102098380 missense probably benign 0.21
Posted On2015-04-16