Incidental Mutation 'IGL01365:Parp9'
ID 75904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp9
Ensembl Gene ENSMUSG00000022906
Gene Name poly (ADP-ribose) polymerase family, member 9
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL01365
Quality Score
Status
Chromosome 16
Chromosomal Location 35759360-35792975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35768324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 168 (T168I)
Ref Sequence ENSEMBL: ENSMUSP00000110528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023622] [ENSMUST00000114877] [ENSMUST00000114878] [ENSMUST00000122870]
AlphaFold no structure available at present
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 possibly damaging
Transcript: ENSMUST00000114878
AA Change: T168I

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: T168I

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T C 10: 85,469,680 (GRCm39) V867A possibly damaging Het
Adgre5 G T 8: 84,450,518 (GRCm39) probably null Het
Agtr1a A G 13: 30,565,811 (GRCm39) Y292C probably damaging Het
CK137956 A G 4: 127,845,135 (GRCm39) S203P probably benign Het
Cnbd1 C T 4: 18,860,576 (GRCm39) G390D probably damaging Het
Cttnbp2nl T C 3: 104,912,346 (GRCm39) T513A probably damaging Het
Dppa2 A G 16: 48,134,276 (GRCm39) K67R possibly damaging Het
Kif3a A G 11: 53,484,350 (GRCm39) K486E possibly damaging Het
Lmnb2 G T 10: 80,740,818 (GRCm39) Q151K probably benign Het
Lmtk3 T A 7: 45,440,331 (GRCm39) L223Q probably damaging Het
Lrrk1 A G 7: 65,937,449 (GRCm39) I901T probably damaging Het
Macf1 T C 4: 123,284,962 (GRCm39) Y3624C probably damaging Het
Mios T A 6: 8,216,089 (GRCm39) Y428* probably null Het
Myb A G 10: 21,028,401 (GRCm39) I154T probably benign Het
Or14a256 T C 7: 86,265,205 (GRCm39) Y216C probably damaging Het
Pramel7 T C 2: 87,321,757 (GRCm39) probably benign Het
Ptar1 T A 19: 23,683,165 (GRCm39) W140R probably damaging Het
Sec14l2 G T 11: 4,048,317 (GRCm39) D400E probably benign Het
Setd3 A T 12: 108,124,165 (GRCm39) Y175N probably damaging Het
Slc5a8 C T 10: 88,727,959 (GRCm39) probably benign Het
Slc8a3 A G 12: 81,362,150 (GRCm39) V223A probably damaging Het
Srsf1 G T 11: 87,940,007 (GRCm39) R173L possibly damaging Het
Svep1 T A 4: 58,100,878 (GRCm39) probably null Het
Tead2 T A 7: 44,866,675 (GRCm39) D11E probably damaging Het
Trappc12 T A 12: 28,797,401 (GRCm39) I44F probably damaging Het
Ttll9 T C 2: 152,842,054 (GRCm39) Y303H possibly damaging Het
Vmn1r28 T A 6: 58,242,176 (GRCm39) N6K possibly damaging Het
Other mutations in Parp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Parp9 APN 16 35,768,368 (GRCm39) missense probably damaging 1.00
IGL01628:Parp9 APN 16 35,777,285 (GRCm39) missense possibly damaging 0.58
IGL02274:Parp9 APN 16 35,768,317 (GRCm39) missense probably damaging 1.00
IGL02693:Parp9 APN 16 35,777,340 (GRCm39) missense probably benign 0.01
R0109:Parp9 UTSW 16 35,768,711 (GRCm39) missense probably damaging 0.97
R0109:Parp9 UTSW 16 35,768,711 (GRCm39) missense probably damaging 0.97
R0559:Parp9 UTSW 16 35,768,362 (GRCm39) missense probably benign 0.00
R1126:Parp9 UTSW 16 35,768,110 (GRCm39) missense possibly damaging 0.53
R1346:Parp9 UTSW 16 35,777,267 (GRCm39) missense probably benign 0.00
R1472:Parp9 UTSW 16 35,774,050 (GRCm39) missense possibly damaging 0.78
R1642:Parp9 UTSW 16 35,788,067 (GRCm39) missense probably benign 0.37
R1900:Parp9 UTSW 16 35,792,591 (GRCm39) missense probably benign 0.00
R2055:Parp9 UTSW 16 35,773,984 (GRCm39) missense probably damaging 0.97
R3177:Parp9 UTSW 16 35,768,578 (GRCm39) missense probably damaging 0.99
R3277:Parp9 UTSW 16 35,768,578 (GRCm39) missense probably damaging 0.99
R4039:Parp9 UTSW 16 35,780,417 (GRCm39) missense probably damaging 1.00
R4869:Parp9 UTSW 16 35,777,274 (GRCm39) missense probably damaging 0.99
R4950:Parp9 UTSW 16 35,768,377 (GRCm39) missense probably damaging 1.00
R5112:Parp9 UTSW 16 35,784,683 (GRCm39) missense probably damaging 1.00
R5117:Parp9 UTSW 16 35,792,202 (GRCm39) splice site probably null
R5180:Parp9 UTSW 16 35,774,106 (GRCm39) nonsense probably null
R5415:Parp9 UTSW 16 35,763,752 (GRCm39) missense probably damaging 0.97
R5535:Parp9 UTSW 16 35,777,195 (GRCm39) missense probably damaging 0.98
R5727:Parp9 UTSW 16 35,784,467 (GRCm39) nonsense probably null
R5842:Parp9 UTSW 16 35,763,778 (GRCm39) missense possibly damaging 0.46
R5942:Parp9 UTSW 16 35,792,259 (GRCm39) missense possibly damaging 0.90
R6110:Parp9 UTSW 16 35,773,996 (GRCm39) missense possibly damaging 0.86
R6193:Parp9 UTSW 16 35,767,921 (GRCm39) missense possibly damaging 0.64
R6707:Parp9 UTSW 16 35,768,303 (GRCm39) missense probably damaging 1.00
R6957:Parp9 UTSW 16 35,768,716 (GRCm39) missense probably benign 0.00
R7014:Parp9 UTSW 16 35,780,433 (GRCm39) critical splice donor site probably null
R7064:Parp9 UTSW 16 35,774,042 (GRCm39) missense probably benign 0.07
R7205:Parp9 UTSW 16 35,777,360 (GRCm39) missense probably benign 0.00
R7221:Parp9 UTSW 16 35,774,071 (GRCm39) missense probably benign 0.00
R7693:Parp9 UTSW 16 35,777,282 (GRCm39) missense possibly damaging 0.67
R8810:Parp9 UTSW 16 35,773,981 (GRCm39) nonsense probably null
R9154:Parp9 UTSW 16 35,768,543 (GRCm39) missense probably damaging 0.99
R9449:Parp9 UTSW 16 35,777,234 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07