Incidental Mutation 'IGL01793:Parp8'
ID155268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp8
Ensembl Gene ENSMUSG00000021725
Gene Namepoly (ADP-ribose) polymerase family, member 8
SynonymsD13Ertd275e, 2810430O08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01793
Quality Score
Status
Chromosome13
Chromosomal Location116854820-117025537 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116910879 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 219 (Y219F)
Ref Sequence ENSEMBL: ENSMUSP00000152911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000225344] [ENSMUST00000226107]
Predicted Effect probably damaging
Transcript: ENSMUST00000022239
AA Change: Y258F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: Y258F

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
low complexity region 163 174 N/A INTRINSIC
low complexity region 217 228 N/A INTRINSIC
internal_repeat_1 332 410 4.61e-10 PROSPERO
internal_repeat_1 404 476 4.61e-10 PROSPERO
low complexity region 497 514 N/A INTRINSIC
Pfam:PARP 712 839 2e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223949
AA Change: Y219F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225344
Predicted Effect probably damaging
Transcript: ENSMUST00000226107
AA Change: Y219F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,336,624 I871V possibly damaging Het
Bbs7 A T 3: 36,605,682 probably null Het
D930020B18Rik T C 10: 121,671,831 I158T probably damaging Het
Drc7 T C 8: 95,071,277 I441T probably benign Het
Etl4 T C 2: 20,743,898 I147T possibly damaging Het
Fat1 G A 8: 44,989,112 M1150I probably benign Het
Fbn1 T C 2: 125,387,293 S523G possibly damaging Het
Gramd1a C T 7: 31,134,413 probably null Het
Hc A G 2: 35,028,190 Y694H probably damaging Het
Kif6 T A 17: 49,624,493 I73N probably damaging Het
Large1 A G 8: 72,859,181 probably benign Het
Luzp2 G T 7: 55,172,249 L171F probably damaging Het
Naaladl1 C A 19: 6,109,631 probably null Het
Otop1 G A 5: 38,299,871 A325T possibly damaging Het
Pkp3 A G 7: 141,088,904 I660V probably benign Het
Plin3 T C 17: 56,281,540 N238S probably benign Het
Ppef2 A T 5: 92,246,756 D186E probably damaging Het
Rab40c G A 17: 25,884,622 L156F probably damaging Het
Scnn1a T C 6: 125,343,703 V547A probably benign Het
Spag6l A G 16: 16,781,857 V247A probably damaging Het
Syne1 T C 10: 5,352,191 E853G possibly damaging Het
Synj2 T A 17: 6,038,046 H1457Q probably benign Het
Synj2 C T 17: 6,027,225 R460* probably null Het
Syt1 T C 10: 108,583,975 D275G possibly damaging Het
Tmx1 A G 12: 70,458,787 D108G probably benign Het
Vmn1r180 T C 7: 23,953,243 V277A probably benign Het
Vmn1r83 C T 7: 12,321,577 M184I probably benign Het
Zfp750 G T 11: 121,513,984 P22T probably damaging Het
Zscan2 A G 7: 80,874,944 I138V probably null Het
Other mutations in Parp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Parp8 APN 13 116927323 missense probably damaging 1.00
IGL01346:Parp8 APN 13 116895064 missense possibly damaging 0.72
IGL01926:Parp8 APN 13 116862302 splice site probably benign
IGL01958:Parp8 APN 13 116876572 missense probably benign 0.14
IGL02131:Parp8 APN 13 116910873 missense probably benign 0.08
IGL02398:Parp8 APN 13 116910863 critical splice donor site probably null
IGL02496:Parp8 APN 13 116862302 splice site probably benign
IGL03135:Parp8 APN 13 116910942 missense probably benign 0.41
IGL03143:Parp8 APN 13 116910961 splice site probably benign
IGL03201:Parp8 APN 13 116863069 splice site probably benign
blondi UTSW 13 116893041 missense possibly damaging 0.77
Heidi UTSW 13 116862204 splice site probably null
R0362:Parp8 UTSW 13 116924968 nonsense probably null
R0699:Parp8 UTSW 13 116922584 missense probably benign 0.01
R1445:Parp8 UTSW 13 117025350 splice site probably null
R1676:Parp8 UTSW 13 116877528 missense probably damaging 0.99
R1977:Parp8 UTSW 13 116910913 missense probably damaging 0.96
R2019:Parp8 UTSW 13 116868432 splice site probably benign
R2049:Parp8 UTSW 13 116894886 missense probably benign 0.20
R2142:Parp8 UTSW 13 116894886 missense probably benign 0.20
R2474:Parp8 UTSW 13 116893041 missense possibly damaging 0.77
R2566:Parp8 UTSW 13 116895687 missense possibly damaging 0.78
R3863:Parp8 UTSW 13 116894767 missense probably benign 0.01
R4126:Parp8 UTSW 13 116868469 missense possibly damaging 0.94
R4518:Parp8 UTSW 13 116895673 missense possibly damaging 0.62
R4519:Parp8 UTSW 13 116895673 missense possibly damaging 0.62
R4767:Parp8 UTSW 13 116868536 missense probably damaging 0.99
R5355:Parp8 UTSW 13 116862204 splice site probably null
R5633:Parp8 UTSW 13 116876580 missense probably damaging 1.00
R5942:Parp8 UTSW 13 116869433 missense probably benign 0.12
R5978:Parp8 UTSW 13 116895732 missense probably benign 0.01
R6039:Parp8 UTSW 13 116877598 missense probably damaging 1.00
R6039:Parp8 UTSW 13 116877598 missense probably damaging 1.00
R6753:Parp8 UTSW 13 116895115 missense possibly damaging 0.91
R7016:Parp8 UTSW 13 116895091 missense probably damaging 1.00
R7139:Parp8 UTSW 13 117025266 missense probably benign 0.21
R7305:Parp8 UTSW 13 116894925 missense possibly damaging 0.95
R7314:Parp8 UTSW 13 116868460 missense probably benign 0.01
R7360:Parp8 UTSW 13 116895771 missense probably benign 0.02
R7526:Parp8 UTSW 13 116894805 missense probably damaging 1.00
R8078:Parp8 UTSW 13 116924983 missense probably damaging 1.00
R8108:Parp8 UTSW 13 116867073 nonsense probably null
R8372:Parp8 UTSW 13 116855250 missense probably damaging 1.00
Posted On2014-02-04