Incidental Mutation 'IGL02693:Parp9'
ID303836
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: 0.169) question?
Stock #IGL02693
Quality Score
Status
Chromosome16
Chromosomal Location35938470-35972605 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35956970 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 428 (E428G)
Ref Sequence ENSEMBL: ENSMUSP00000110528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023622] [ENSMUST00000114877] [ENSMUST00000114878]
Predicted Effect probably benign
Transcript: ENSMUST00000023622
AA Change: E195G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906
AA Change: E195G

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 benign
Transcript: ENSMUST00000114878
AA Change: E428G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: E428G

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: 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,285,258 I3973V probably benign Het
A830018L16Rik A G 1: 11,596,282 D271G probably damaging Het
Agl A T 3: 116,746,428 V1478E possibly damaging Het
Ckap5 C T 2: 91,570,211 P636L probably damaging Het
Cnot1 A G 8: 95,773,485 V127A probably damaging Het
Cs A G 10: 128,349,809 probably benign Het
Fbln1 G A 15: 85,229,574 E170K probably benign Het
Gm5866 A T 5: 52,583,216 noncoding transcript Het
Lpin3 T C 2: 160,905,055 V794A probably damaging Het
Ly86 T G 13: 37,375,029 I68S probably damaging Het
Mrps34 A G 17: 24,895,198 I11V probably benign Het
Nsmce4a A G 7: 130,542,808 S122P probably damaging Het
Olfm1 A G 2: 28,212,650 E112G probably damaging Het
Olfr1153 T G 2: 87,896,533 C111W probably damaging Het
Phkb T G 8: 85,942,234 F297V probably damaging Het
Pianp T G 6: 125,001,635 F268V possibly damaging Het
Polr1a T C 6: 71,963,846 probably benign Het
Prune2 G A 19: 17,124,491 G2453E probably benign Het
Ptpn4 T C 1: 119,715,969 N350D probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfc4 A G 16: 23,114,210 S326P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc35f1 A T 10: 52,933,128 L70F probably damaging Het
Slc5a7 T C 17: 54,276,919 T448A probably benign Het
Stoml1 T A 9: 58,257,076 I149N probably damaging Het
Sytl1 A T 4: 133,257,746 C180S probably benign Het
Tex37 C A 6: 70,913,504 R101S possibly damaging Het
Traf6 T C 2: 101,688,505 L113P possibly damaging Het
Trappc9 A G 15: 72,963,693 probably benign Het
Tubg2 T C 11: 101,160,899 Y317H probably damaging Het
Zfp334 T C 2: 165,380,513 T537A possibly damaging 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
IGL02274:Parp9 APN 16 35947947 missense probably damaging 1.00
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
R7014:Parp9 UTSW 16 35960063 critical splice donor site probably null
R7064:Parp9 UTSW 16 35953672 missense probably benign 0.07
R7205:Parp9 UTSW 16 35956990 missense probably benign 0.00
R7221:Parp9 UTSW 16 35953701 missense probably benign 0.00
R7693:Parp9 UTSW 16 35956912 missense possibly damaging 0.67
Posted On2015-04-16