Incidental Mutation 'IGL02274:Parp9'
ID287276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp9
Ensembl Gene ENSMUSG00000022906
Gene Namepoly (ADP-ribose) polymerase family, member 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #IGL02274
Quality Score
Status
Chromosome16
Chromosomal Location35938470-35972605 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 35947947 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 166 (R166W)
Ref Sequence ENSEMBL: ENSMUSP00000110528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023622] [ENSMUST00000114877] [ENSMUST00000114878] [ENSMUST00000122870]
Predicted Effect probably benign
Transcript: ENSMUST00000023622
SMART Domains Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906

DomainStartEndE-ValueType
Pfam:Macro 74 182 1.5e-16 PFAM
PDB:3HKV|B 386 559 3e-9 PDB
SCOP:d1a26_2 403 521 1e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114877
SMART Domains Protein: ENSMUSP00000110527
Gene: ENSMUSG00000022906

DomainStartEndE-ValueType
A1pp 121 257 6.75e-33 SMART
A1pp 325 451 9.37e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114878
AA Change: R166W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: R166W

DomainStartEndE-ValueType
A1pp 85 221 6.75e-33 SMART
A1pp 289 415 9.37e-9 SMART
PDB:3HKV|B 619 792 4e-8 PDB
SCOP:d1a26_2 636 754 1e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153066
Predicted Effect probably benign
Transcript: ENSMUST00000159160
SMART Domains Protein: ENSMUSP00000124098
Gene: ENSMUSG00000022906

DomainStartEndE-ValueType
Pfam:Macro 29 100 8.3e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 A G 8: 14,947,205 D48G probably damaging Het
Asnsd1 T C 1: 53,347,575 I298V probably benign Het
Cacna2d3 G T 14: 28,956,870 probably null Het
Cbs T C 17: 31,625,948 probably null Het
Ccm2 C A 11: 6,590,808 T216K probably damaging Het
D430042O09Rik A G 7: 125,770,570 probably null Het
Galc C T 12: 98,254,214 W131* probably null Het
Gemin5 T C 11: 58,156,795 R318G possibly damaging Het
Gsta3 T G 1: 21,249,788 V6G possibly damaging Het
Hdlbp A T 1: 93,408,507 probably null Het
Igkv13-55-1 T G 6: 69,600,148 noncoding transcript Het
Il17rd A G 14: 27,099,910 Y387C probably damaging Het
Kmt2e C T 5: 23,500,760 T1344I probably benign Het
L3mbtl4 A C 17: 68,764,584 H502P probably benign Het
Lrig1 A T 6: 94,663,938 N95K possibly damaging Het
Neurl2 G T 2: 164,833,092 R117S probably damaging Het
Nos1 G A 5: 117,897,780 A449T probably damaging Het
Noxa1 A T 2: 25,085,755 V435E probably benign Het
Pdzd2 A G 15: 12,445,649 I158T probably damaging Het
Pip5k1c T C 10: 81,306,384 Y143H probably damaging Het
Qrfpr A G 3: 36,222,136 V35A probably damaging Het
Rab3gap1 T G 1: 127,939,080 S881A probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scai G A 2: 39,102,317 probably benign Het
Skiv2l T A 17: 34,845,863 I418F probably damaging Het
Tenm4 A C 7: 96,854,734 H1300P probably damaging Het
Tmppe A G 9: 114,405,431 H266R probably benign Het
Wdr11 A T 7: 129,631,172 probably null Het
Xirp2 A G 2: 67,508,651 E412G probably benign Het
Zan A G 5: 137,421,167 V2910A unknown Het
Other mutations in Parp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Parp9 APN 16 35947998 missense probably damaging 1.00
IGL01365:Parp9 APN 16 35947954 missense possibly damaging 0.71
IGL01628:Parp9 APN 16 35956915 missense possibly damaging 0.58
IGL02693:Parp9 APN 16 35956970 missense probably benign 0.01
R0109:Parp9 UTSW 16 35948341 missense probably damaging 0.97
R0109:Parp9 UTSW 16 35948341 missense probably damaging 0.97
R0559:Parp9 UTSW 16 35947992 missense probably benign 0.00
R1126:Parp9 UTSW 16 35947740 missense possibly damaging 0.53
R1346:Parp9 UTSW 16 35956897 missense probably benign 0.00
R1472:Parp9 UTSW 16 35953680 missense possibly damaging 0.78
R1642:Parp9 UTSW 16 35967697 missense probably benign 0.37
R1900:Parp9 UTSW 16 35972221 missense probably benign 0.00
R2055:Parp9 UTSW 16 35953614 missense probably damaging 0.97
R3177:Parp9 UTSW 16 35948208 missense probably damaging 0.99
R3277:Parp9 UTSW 16 35948208 missense probably damaging 0.99
R4039:Parp9 UTSW 16 35960047 missense probably damaging 1.00
R4869:Parp9 UTSW 16 35956904 missense probably damaging 0.99
R4950:Parp9 UTSW 16 35948007 missense probably damaging 1.00
R5112:Parp9 UTSW 16 35964313 missense probably damaging 1.00
R5117:Parp9 UTSW 16 35971832 splice site probably null
R5180:Parp9 UTSW 16 35953736 nonsense probably null
R5415:Parp9 UTSW 16 35943382 missense probably damaging 0.97
R5535:Parp9 UTSW 16 35956825 missense probably damaging 0.98
R5727:Parp9 UTSW 16 35964097 nonsense probably null
R5842:Parp9 UTSW 16 35943408 missense possibly damaging 0.46
R5942:Parp9 UTSW 16 35971889 missense possibly damaging 0.90
R6110:Parp9 UTSW 16 35953626 missense possibly damaging 0.86
R6193:Parp9 UTSW 16 35947551 missense possibly damaging 0.64
R6707:Parp9 UTSW 16 35947933 missense probably damaging 1.00
R6957:Parp9 UTSW 16 35948346 missense probably benign 0.00
Posted On2015-04-16