Incidental Mutation 'IGL03169:Parp6'
ID411764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp6
Ensembl Gene ENSMUSG00000025237
Gene Namepoly (ADP-ribose) polymerase family, member 6
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.432) question?
Stock #IGL03169
Quality Score
Status
Chromosome9
Chromosomal Location59617284-59650285 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 59650017 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 131 (Y131*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026267] [ENSMUST00000050483] [ENSMUST00000167091] [ENSMUST00000216351]
Predicted Effect probably null
Transcript: ENSMUST00000026267
AA Change: Y628*
SMART Domains Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: Y628*

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
Pfam:PARP 450 580 5.6e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000050483
AA Change: Y608*
SMART Domains Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: Y608*

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 303 315 N/A INTRINSIC
SCOP:d1a26_2 409 475 4e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167091
SMART Domains Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
SCOP:d1a26_2 429 473 4e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000214956
AA Change: Y131*
Predicted Effect probably benign
Transcript: ENSMUST00000216351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217284
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 83,931,995 I548F probably damaging Het
Adgrv1 T A 13: 81,503,900 Q2995L probably damaging Het
Capn9 T C 8: 124,605,877 I485T probably damaging Het
Ccdc17 T A 4: 116,597,760 I197N probably damaging Het
Chl1 T A 6: 103,665,967 L222Q probably damaging Het
Ctla4 T C 1: 60,914,605 probably benign Het
Cyp2d12 T C 15: 82,559,291 S485P probably benign Het
Ddx50 A T 10: 62,621,387 probably null Het
Dlgap4 C A 2: 156,711,018 probably null Het
Dpysl4 G A 7: 139,099,910 probably null Het
Erbin T C 13: 103,841,232 M606V possibly damaging Het
Fat4 T G 3: 38,957,398 S2216A probably benign Het
Frem2 T C 3: 53,522,292 N2779S probably benign Het
Fut1 T C 7: 45,619,033 V82A probably benign Het
Gnb1l C T 16: 18,540,455 A2V probably damaging Het
Hdac1 C T 4: 129,518,831 E327K probably null Het
Hdlbp A G 1: 93,416,587 V819A possibly damaging Het
Ift122 T C 6: 115,905,961 probably benign Het
Iqgap2 T C 13: 95,731,277 probably null Het
Kntc1 T C 5: 123,775,821 V613A possibly damaging Het
Lamb1 T C 12: 31,323,646 V1458A probably damaging Het
Lef1 A G 3: 131,194,663 K265R probably damaging Het
Lrp2 T C 2: 69,523,194 D574G probably damaging Het
Mterf2 C T 10: 85,120,460 R100H probably benign Het
Nr1d2 C T 14: 18,216,703 R155Q probably damaging Het
Obscn T C 11: 59,073,296 T3304A probably damaging Het
Olfr1251 A G 2: 89,667,487 I133T possibly damaging Het
Olfr137 G T 17: 38,305,101 S120Y probably damaging Het
Os9 G A 10: 127,098,594 T391M probably benign Het
Plxdc1 T C 11: 97,932,320 E358G possibly damaging Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Ptprc A T 1: 138,113,619 S167R probably benign Het
Rad54l2 T C 9: 106,719,064 D225G probably benign Het
Rgs7 T C 1: 175,270,835 I53V possibly damaging Het
Rpa1 T C 11: 75,301,357 D607G probably damaging Het
Shisa5 T A 9: 109,056,492 H213Q probably damaging Het
Syncrip A G 9: 88,456,443 probably benign Het
Taf4b T G 18: 14,821,535 V556G probably damaging Het
Tgif1 A C 17: 70,844,841 S258R possibly damaging Het
Tmem106a T C 11: 101,590,458 probably benign Het
Vmn1r113 A T 7: 20,788,087 H268L probably benign Het
Vmn1r40 A T 6: 89,715,023 Q274L probably damaging Het
Wdr70 A C 15: 7,884,340 I609M possibly damaging Het
Wdr91 G A 6: 34,905,491 S241L possibly damaging Het
Zfyve9 T C 4: 108,695,825 Y713C probably damaging Het
Other mutations in Parp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Parp6 APN 9 59632959 missense probably damaging 1.00
IGL01366:Parp6 APN 9 59636713 missense possibly damaging 0.75
IGL01385:Parp6 APN 9 59630612 splice site probably benign
IGL02000:Parp6 APN 9 59648892 missense probably benign 0.00
IGL02001:Parp6 APN 9 59649961 missense possibly damaging 0.90
IGL02315:Parp6 APN 9 59641738 intron probably benign
IGL02719:Parp6 APN 9 59630738 missense probably benign 0.26
IGL02928:Parp6 APN 9 59641063 missense possibly damaging 0.70
IGL03398:Parp6 APN 9 59641053 missense probably damaging 0.97
R0165:Parp6 UTSW 9 59632925 missense probably damaging 1.00
R0602:Parp6 UTSW 9 59649365 splice site probably benign
R0781:Parp6 UTSW 9 59649564 missense probably damaging 0.99
R1110:Parp6 UTSW 9 59649564 missense probably damaging 0.99
R1730:Parp6 UTSW 9 59633538 nonsense probably null
R1783:Parp6 UTSW 9 59633538 nonsense probably null
R2264:Parp6 UTSW 9 59624005 missense probably damaging 1.00
R4323:Parp6 UTSW 9 59630686 missense possibly damaging 0.84
R4654:Parp6 UTSW 9 59641100 splice site probably null
R4672:Parp6 UTSW 9 59640110 missense probably damaging 1.00
R4673:Parp6 UTSW 9 59640110 missense probably damaging 1.00
R4708:Parp6 UTSW 9 59641769 missense probably damaging 0.98
R4709:Parp6 UTSW 9 59641769 missense probably damaging 0.98
R4763:Parp6 UTSW 9 59631365 missense probably damaging 1.00
R4782:Parp6 UTSW 9 59634984 splice site probably null
R4825:Parp6 UTSW 9 59624362 splice site probably null
R5563:Parp6 UTSW 9 59628673 splice site probably null
R5700:Parp6 UTSW 9 59624727 missense probably damaging 1.00
R6235:Parp6 UTSW 9 59630815 missense probably benign 0.34
R6269:Parp6 UTSW 9 59650012 missense probably benign
R6383:Parp6 UTSW 9 59623939 missense probably damaging 0.99
X0061:Parp6 UTSW 9 59630765 missense probably benign 0.25
Posted On2016-08-02