Incidental Mutation 'IGL01366:Parp6'
ID75950
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 essential (E-score: 0.503) question?
Stock #IGL01366
Quality Score
Status
Chromosome9
Chromosomal Location59617284-59650285 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59636713 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 390 (M390K)
Ref Sequence ENSEMBL: ENSMUSP00000129456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026267] [ENSMUST00000050483] [ENSMUST00000167091] [ENSMUST00000216351]
Predicted Effect probably benign
Transcript: ENSMUST00000026267
AA Change: M390K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: M390K

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 benign
Transcript: ENSMUST00000050483
AA Change: M370K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: M370K

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 possibly damaging
Transcript: ENSMUST00000167091
AA Change: M390K

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237
AA Change: M390K

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 benign
Transcript: ENSMUST00000214956
Predicted Effect probably benign
Transcript: ENSMUST00000216351
AA Change: M370K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216482
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,950,700 probably benign Het
Adamts2 T C 11: 50,796,468 Y1041H probably damaging Het
Adck5 A C 15: 76,595,616 *568C probably null Het
AK157302 T A 13: 21,495,301 probably benign Het
Bmpr2 G T 1: 59,813,677 G56W probably damaging Het
Capn11 A C 17: 45,653,200 I146S probably damaging Het
Ccdc162 A T 10: 41,580,306 D1613E possibly damaging Het
Ccdc167 T C 17: 29,705,312 E50G probably damaging Het
Col5a2 G T 1: 45,391,888 P864Q possibly damaging Het
Col7a1 C T 9: 108,977,119 probably benign Het
Crebbp T A 16: 4,126,506 H556L probably damaging Het
Dcpp1 T A 17: 23,882,736 I153N possibly damaging Het
Dgke C T 11: 89,055,386 R196H probably benign Het
Efr3a T A 15: 65,851,150 I459K probably benign Het
Espl1 T A 15: 102,319,836 C1682S probably benign Het
Exosc3 C T 4: 45,317,747 R185H probably damaging Het
Fam160b2 G A 14: 70,585,373 R688C probably damaging Het
Fgd6 T C 10: 94,043,476 V64A possibly damaging Het
Gata3 A G 2: 9,877,465 L42P probably damaging Het
Ggta1 C A 2: 35,402,450 E282* probably null Het
Ghr T C 15: 3,320,187 D503G probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Gm2058 A G 7: 39,589,234 noncoding transcript Het
Grb7 T C 11: 98,452,274 probably benign Het
Ifngr1 A T 10: 19,609,600 H449L probably damaging Het
Ighg2b T G 12: 113,307,036 D158A possibly damaging Het
Nphs2 T C 1: 156,311,035 V83A probably benign Het
Pask T C 1: 93,310,852 K1304E probably benign Het
Scai A G 2: 39,106,961 S274P probably benign Het
Sik2 A G 9: 50,907,463 S404P probably damaging Het
Slc7a8 A T 14: 54,781,188 I47N probably damaging Het
Tas2r113 A T 6: 132,893,797 I263F probably benign Het
Tdrd1 T A 19: 56,855,302 D737E probably benign Het
Trio T C 15: 27,732,868 T2976A possibly damaging Het
Ttc28 T C 5: 111,085,171 probably null Het
Vmn1r21 A G 6: 57,843,814 I215T probably benign Het
Other mutations in Parp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Parp6 APN 9 59632959 missense probably damaging 1.00
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
IGL03169:Parp6 APN 9 59650017 nonsense probably null
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 On2013-10-07