Incidental Mutation 'IGL02937:Parp12'
ID 364359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp12
Ensembl Gene ENSMUSG00000038507
Gene Name poly (ADP-ribose) polymerase family, member 12
Synonyms Zc3hdc1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02937
Quality Score
Status
Chromosome 6
Chromosomal Location 39086410-39118349 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39102581 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 332 (Y332N)
Ref Sequence ENSEMBL: ENSMUSP00000039704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038398]
AlphaFold Q8BZ20
Predicted Effect probably damaging
Transcript: ENSMUST00000038398
AA Change: Y332N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039704
Gene: ENSMUSG00000038507
AA Change: Y332N

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 17 32 N/A INTRINSIC
low complexity region 51 83 N/A INTRINSIC
ZnF_C3H1 99 127 2.79e1 SMART
ZnF_C3H1 186 210 1.36e-2 SMART
ZnF_C3H1 280 306 2.03e1 SMART
Pfam:WWE 385 468 1.3e-16 PFAM
Pfam:PARP 506 689 5.2e-48 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,294,753 C21Y probably damaging Het
4933427D06Rik T C 6: 89,108,145 noncoding transcript Het
5730480H06Rik A G 5: 48,379,441 I160V probably benign Het
Arhgap29 G A 3: 121,974,049 E47K probably damaging Het
Arhgef12 T A 9: 43,015,920 S303C probably damaging Het
Bap1 A G 14: 31,258,327 N644S probably benign Het
Cc2d1b A G 4: 108,631,894 E796G probably damaging Het
Cfh C A 1: 140,105,442 R788L probably benign Het
Cldn1 A G 16: 26,360,873 F148S probably damaging Het
Cryzl1 A G 16: 91,690,731 M292T possibly damaging Het
Cyp11b1 T C 15: 74,836,559 R385G possibly damaging Het
Cyp4f37 T C 17: 32,625,189 L89P probably benign Het
Dach1 A G 14: 97,915,795 probably null Het
Ddx58 C T 4: 40,229,661 C86Y probably benign Het
Dhtkd1 A G 2: 5,917,905 I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 D44E probably damaging Het
Dsg1a T A 18: 20,331,534 I362N possibly damaging Het
Ecm2 T A 13: 49,518,476 I151N probably damaging Het
Far1 T A 7: 113,540,648 I101N probably damaging Het
Gm21985 T C 2: 112,341,862 S384P probably benign Het
Gnb5 T C 9: 75,340,189 Y247H probably damaging Het
Golgb1 A G 16: 36,916,210 K1940E probably damaging Het
Gprc5b A G 7: 118,983,794 V284A probably benign Het
Idh2 T C 7: 80,098,913 Y179C probably damaging Het
Kalrn G A 16: 34,220,130 Q737* probably null Het
Kcnj13 T C 1: 87,386,453 D349G probably damaging Het
Lgsn A T 1: 31,204,237 T467S possibly damaging Het
Map9 T A 3: 82,363,512 S128T possibly damaging Het
Mroh5 A G 15: 73,789,978 C455R probably damaging Het
Nes A G 3: 87,979,879 H1771R probably benign Het
Nkain2 T C 10: 32,329,844 Y65C probably damaging Het
Olfr303 T C 7: 86,394,590 K303E possibly damaging Het
Olfr623 A T 7: 103,660,905 V115D probably damaging Het
Olfr644 T A 7: 104,068,849 M61L probably damaging Het
Pabpc4l A C 3: 46,446,290 D306E probably benign Het
Parvb A T 15: 84,308,953 K316M probably damaging Het
Pde8a T A 7: 81,295,771 probably benign Het
Polq A G 16: 37,013,109 T55A probably benign Het
Ppp2r5b T A 19: 6,230,986 K271M probably damaging Het
Ralgapb A G 2: 158,493,016 probably null Het
Skap2 T C 6: 51,909,371 N175D probably benign Het
Slc44a3 A G 3: 121,510,321 probably benign Het
Smurf2 G A 11: 106,846,047 H318Y probably damaging Het
Tbc1d23 T C 16: 57,184,415 T460A possibly damaging Het
Tcerg1 T C 18: 42,524,349 S299P unknown Het
Tll1 A C 8: 64,205,285 Y33* probably null Het
Tmem59 A T 4: 107,197,585 T196S probably damaging Het
Ttll4 C A 1: 74,679,503 A171D possibly damaging Het
Ttn T C 2: 76,811,169 T13528A possibly damaging Het
Ttn A G 2: 76,887,277 probably benign Het
Xpc C A 6: 91,500,137 G327W probably damaging Het
Zbtb7a A G 10: 81,144,298 S109G probably benign Het
Zfyve26 T C 12: 79,239,020 M2328V probably benign Het
Other mutations in Parp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Parp12 APN 6 39096590 missense probably benign 0.01
IGL03032:Parp12 APN 6 39087586 splice site probably null
IGL03149:Parp12 APN 6 39114231 missense probably benign 0.07
IGL03365:Parp12 APN 6 39102647 missense probably damaging 1.00
I1329:Parp12 UTSW 6 39087571 missense probably damaging 1.00
R1016:Parp12 UTSW 6 39111726 missense probably damaging 1.00
R1446:Parp12 UTSW 6 39102561 missense probably benign 0.00
R1640:Parp12 UTSW 6 39096640 missense probably benign 0.38
R1640:Parp12 UTSW 6 39111678 missense probably damaging 1.00
R4794:Parp12 UTSW 6 39117810 missense probably benign 0.02
R5324:Parp12 UTSW 6 39102612 missense probably damaging 0.99
R5411:Parp12 UTSW 6 39090208 missense probably damaging 1.00
R6862:Parp12 UTSW 6 39111736 missense probably benign 0.02
R6864:Parp12 UTSW 6 39111736 missense probably benign 0.02
R6865:Parp12 UTSW 6 39111736 missense probably benign 0.02
R7124:Parp12 UTSW 6 39111736 missense probably benign 0.02
R7126:Parp12 UTSW 6 39111736 missense probably benign 0.02
R7935:Parp12 UTSW 6 39102678 missense possibly damaging 0.70
R8050:Parp12 UTSW 6 39089104 missense probably damaging 1.00
R8403:Parp12 UTSW 6 39091345 missense probably benign 0.06
R8686:Parp12 UTSW 6 39117922 missense probably benign 0.00
R8792:Parp12 UTSW 6 39089050 missense probably benign 0.00
R8813:Parp12 UTSW 6 39096574 missense probably damaging 1.00
Posted On 2015-12-18