Incidental Mutation 'IGL00916:Parp8'
ID 28841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp8
Ensembl Gene ENSMUSG00000021725
Gene Name poly (ADP-ribose) polymerase family, member 8
Synonyms D13Ertd275e, 2810430O08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00916
Quality Score
Status
Chromosome 13
Chromosomal Location 116991356-117162073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117063859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 85 (I85F)
Ref Sequence ENSEMBL: ENSMUSP00000152911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000225344] [ENSMUST00000225974] [ENSMUST00000226107]
AlphaFold Q3UD82
Predicted Effect probably damaging
Transcript: ENSMUST00000022239
AA Change: I124F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: I124F

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: I85F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224157
Predicted Effect probably benign
Transcript: ENSMUST00000225344
Predicted Effect probably benign
Transcript: ENSMUST00000225974
Predicted Effect probably damaging
Transcript: ENSMUST00000226107
AA Change: I85F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,851 (GRCm39) Q762L probably benign Het
Aldh1a1 T C 19: 20,597,361 (GRCm39) V114A probably benign Het
Ano4 T C 10: 88,833,960 (GRCm39) I459V probably benign Het
Atad5 C T 11: 80,009,826 (GRCm39) P1199S probably damaging Het
Bmp10 T C 6: 87,406,142 (GRCm39) F43S possibly damaging Het
Cd96 T C 16: 45,861,675 (GRCm39) E505G probably benign Het
Eapp T C 12: 54,739,593 (GRCm39) T75A possibly damaging Het
Emilin1 T C 5: 31,071,246 (GRCm39) Y10H probably damaging Het
Ercc6 A G 14: 32,284,612 (GRCm39) probably benign Het
Gucy2e T C 11: 69,113,923 (GRCm39) I1089V possibly damaging Het
H6pd C A 4: 150,078,925 (GRCm39) probably null Het
Igsf10 A T 3: 59,238,548 (GRCm39) F544L probably damaging Het
Il23r T C 6: 67,450,915 (GRCm39) Y188C probably damaging Het
Ilrun A G 17: 27,986,893 (GRCm39) Y278H probably damaging Het
Inpp5j T C 11: 3,452,389 (GRCm39) E287G probably damaging Het
Lrp6 T C 6: 134,461,252 (GRCm39) D735G probably damaging Het
Mast2 A T 4: 116,184,830 (GRCm39) M240K possibly damaging Het
Mreg T A 1: 72,203,291 (GRCm39) T96S probably benign Het
Mta2 A T 19: 8,924,465 (GRCm39) M220L probably benign Het
Mycbp2 A G 14: 103,528,719 (GRCm39) probably benign Het
Naip2 T A 13: 100,297,939 (GRCm39) N699I probably damaging Het
Ncapg T G 5: 45,828,534 (GRCm39) I95S probably benign Het
Ndufa13 A G 8: 70,347,069 (GRCm39) probably benign Het
Nol10 T A 12: 17,411,130 (GRCm39) probably benign Het
Rgs2 T A 1: 143,877,967 (GRCm39) I78F probably damaging Het
Rpia C T 6: 70,752,086 (GRCm39) probably benign Het
Sec63 T C 10: 42,688,453 (GRCm39) S488P possibly damaging Het
Tfcp2 T G 15: 100,418,559 (GRCm39) H201P probably damaging Het
Tnfaip2 T G 12: 111,419,983 (GRCm39) I705R probably damaging Het
Ttf1 A G 2: 28,960,054 (GRCm39) N554S probably benign Het
Ulk1 A G 5: 110,940,877 (GRCm39) S351P probably damaging Het
Zp2 T A 7: 119,737,397 (GRCm39) N264Y probably damaging Het
Other mutations in Parp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Parp8 APN 13 117,031,600 (GRCm39) missense possibly damaging 0.72
IGL01793:Parp8 APN 13 117,047,415 (GRCm39) missense probably damaging 1.00
IGL01926:Parp8 APN 13 116,998,838 (GRCm39) splice site probably benign
IGL01958:Parp8 APN 13 117,013,108 (GRCm39) missense probably benign 0.14
IGL02131:Parp8 APN 13 117,047,409 (GRCm39) missense probably benign 0.08
IGL02398:Parp8 APN 13 117,047,399 (GRCm39) critical splice donor site probably null
IGL02496:Parp8 APN 13 116,998,838 (GRCm39) splice site probably benign
IGL03135:Parp8 APN 13 117,047,478 (GRCm39) missense probably benign 0.41
IGL03143:Parp8 APN 13 117,047,497 (GRCm39) splice site probably benign
IGL03201:Parp8 APN 13 116,999,605 (GRCm39) splice site probably benign
blondi UTSW 13 117,029,577 (GRCm39) missense possibly damaging 0.77
Heidi UTSW 13 116,998,740 (GRCm39) splice site probably null
R0362:Parp8 UTSW 13 117,061,504 (GRCm39) nonsense probably null
R0699:Parp8 UTSW 13 117,059,120 (GRCm39) missense probably benign 0.01
R1445:Parp8 UTSW 13 117,161,886 (GRCm39) splice site probably null
R1676:Parp8 UTSW 13 117,014,064 (GRCm39) missense probably damaging 0.99
R1977:Parp8 UTSW 13 117,047,449 (GRCm39) missense probably damaging 0.96
R2019:Parp8 UTSW 13 117,004,968 (GRCm39) splice site probably benign
R2049:Parp8 UTSW 13 117,031,422 (GRCm39) missense probably benign 0.20
R2142:Parp8 UTSW 13 117,031,422 (GRCm39) missense probably benign 0.20
R2474:Parp8 UTSW 13 117,029,577 (GRCm39) missense possibly damaging 0.77
R2566:Parp8 UTSW 13 117,032,223 (GRCm39) missense possibly damaging 0.78
R3863:Parp8 UTSW 13 117,031,303 (GRCm39) missense probably benign 0.01
R4126:Parp8 UTSW 13 117,005,005 (GRCm39) missense possibly damaging 0.94
R4518:Parp8 UTSW 13 117,032,209 (GRCm39) missense possibly damaging 0.62
R4519:Parp8 UTSW 13 117,032,209 (GRCm39) missense possibly damaging 0.62
R4767:Parp8 UTSW 13 117,005,072 (GRCm39) missense probably damaging 0.99
R5355:Parp8 UTSW 13 116,998,740 (GRCm39) splice site probably null
R5633:Parp8 UTSW 13 117,013,116 (GRCm39) missense probably damaging 1.00
R5942:Parp8 UTSW 13 117,005,969 (GRCm39) missense probably benign 0.12
R5978:Parp8 UTSW 13 117,032,268 (GRCm39) missense probably benign 0.01
R6039:Parp8 UTSW 13 117,014,134 (GRCm39) missense probably damaging 1.00
R6039:Parp8 UTSW 13 117,014,134 (GRCm39) missense probably damaging 1.00
R6753:Parp8 UTSW 13 117,031,651 (GRCm39) missense possibly damaging 0.91
R7016:Parp8 UTSW 13 117,031,627 (GRCm39) missense probably damaging 1.00
R7139:Parp8 UTSW 13 117,161,802 (GRCm39) missense probably benign 0.21
R7305:Parp8 UTSW 13 117,031,461 (GRCm39) missense possibly damaging 0.95
R7314:Parp8 UTSW 13 117,004,996 (GRCm39) missense probably benign 0.01
R7360:Parp8 UTSW 13 117,032,307 (GRCm39) missense probably benign 0.02
R7526:Parp8 UTSW 13 117,031,341 (GRCm39) missense probably damaging 1.00
R8078:Parp8 UTSW 13 117,061,519 (GRCm39) missense probably damaging 1.00
R8108:Parp8 UTSW 13 117,003,609 (GRCm39) nonsense probably null
R8372:Parp8 UTSW 13 116,991,786 (GRCm39) missense probably damaging 1.00
R9005:Parp8 UTSW 13 117,013,126 (GRCm39) missense probably benign
R9072:Parp8 UTSW 13 117,047,951 (GRCm39) missense probably damaging 1.00
R9073:Parp8 UTSW 13 117,047,951 (GRCm39) missense probably damaging 1.00
R9351:Parp8 UTSW 13 117,000,781 (GRCm39) missense probably damaging 0.99
R9441:Parp8 UTSW 13 117,029,562 (GRCm39) missense probably damaging 1.00
R9448:Parp8 UTSW 13 117,039,360 (GRCm39) nonsense probably null
R9470:Parp8 UTSW 13 117,031,292 (GRCm39) missense probably benign 0.02
R9562:Parp8 UTSW 13 117,029,631 (GRCm39) missense probably benign 0.16
Posted On 2013-04-17