Incidental Mutation 'IGL02222:Parpbp'
ID285191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parpbp
Ensembl Gene ENSMUSG00000035365
Gene NamePARP1 binding protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02222
Quality Score
Status
Chromosome10
Chromosomal Location88091432-88146941 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 88140085 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 55 (E55D)
Ref Sequence ENSEMBL: ENSMUSP00000038375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048518] [ENSMUST00000164121] [ENSMUST00000164803] [ENSMUST00000168163]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048518
AA Change: E55D

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365
AA Change: E55D

DomainStartEndE-ValueType
SCOP:d1pjr_2 154 268 8e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000164121
AA Change: E55D

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130777
Gene: ENSMUSG00000035365
AA Change: E55D

DomainStartEndE-ValueType
SCOP:d1pjr_2 154 202 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164803
AA Change: E55D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
Predicted Effect possibly damaging
Transcript: ENSMUST00000168163
AA Change: E55D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218993
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,282,886 R1682W probably benign Het
Angptl6 A T 9: 20,873,907 M450K probably damaging Het
Armc12 C A 17: 28,538,720 N275K probably damaging Het
Cd27 T C 6: 125,234,532 H144R probably damaging Het
Cenpf T C 1: 189,654,444 K1880E probably benign Het
Dchs1 A T 7: 105,764,887 I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 F443C possibly damaging Het
Eif3i C T 4: 129,592,088 D315N possibly damaging Het
Fam217a A G 13: 34,911,119 L128P probably damaging Het
Fam46b T C 4: 133,486,553 V245A probably damaging Het
Fetub C T 16: 22,932,328 L62F probably damaging Het
Fmn1 A T 2: 113,593,109 I1047F probably damaging Het
G2e3 A G 12: 51,363,233 H267R probably damaging Het
Gigyf2 A G 1: 87,410,863 probably null Het
Gm10650 T C 3: 128,040,140 noncoding transcript Het
Grip1 C T 10: 119,999,809 T470I probably damaging Het
Hmcn1 T G 1: 150,806,401 D466A probably benign Het
Lrrc63 T C 14: 75,086,140 Y548C probably damaging Het
Naaa T C 5: 92,259,550 probably benign Het
Pnpt1 G A 11: 29,130,842 A29T probably benign Het
Pnpt1 A T 11: 29,159,327 D691V possibly damaging Het
Pramef6 A G 4: 143,895,846 M313T possibly damaging Het
Psg25 T C 7: 18,529,727 N57S probably damaging Het
Selenbp2 T A 3: 94,699,962 V168E probably damaging Het
Syne2 G A 12: 75,952,843 E2337K probably damaging Het
Synj2 A G 17: 6,037,480 T1269A probably benign Het
Tnfrsf13c C A 15: 82,223,163 V144L probably damaging Het
Uspl1 G T 5: 149,194,044 V132L probably benign Het
Vmn2r58 T A 7: 41,864,025 Y398F possibly damaging Het
Vps13a T A 19: 16,682,175 T1663S probably benign Het
Ythdc1 G A 5: 86,828,043 R503H possibly damaging Het
Other mutations in Parpbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Parpbp APN 10 88139986 nonsense probably null
IGL02058:Parpbp APN 10 88144036 missense probably benign 0.03
IGL02976:Parpbp APN 10 88111594 critical splice donor site probably null
IGL03013:Parpbp APN 10 88139978 missense probably damaging 0.96
PIT4468001:Parpbp UTSW 10 88144073 missense probably benign 0.00
PIT4544001:Parpbp UTSW 10 88114549 missense possibly damaging 0.90
R0145:Parpbp UTSW 10 88093009 missense possibly damaging 0.76
R0201:Parpbp UTSW 10 88092896 missense possibly damaging 0.46
R0471:Parpbp UTSW 10 88093707 missense probably damaging 0.96
R2057:Parpbp UTSW 10 88124962 missense probably benign 0.00
R2350:Parpbp UTSW 10 88133088 splice site probably benign
R4551:Parpbp UTSW 10 88093702 missense possibly damaging 0.82
R4552:Parpbp UTSW 10 88093702 missense possibly damaging 0.82
R5843:Parpbp UTSW 10 88133191 missense probably damaging 1.00
R5951:Parpbp UTSW 10 88139907 missense probably damaging 0.99
R6003:Parpbp UTSW 10 88133158 missense possibly damaging 0.71
R6656:Parpbp UTSW 10 88110313 missense probably benign
R7081:Parpbp UTSW 10 88093655 missense probably damaging 0.99
R7240:Parpbp UTSW 10 88124940 missense probably damaging 0.99
R7334:Parpbp UTSW 10 88111755 missense probably damaging 0.99
R7615:Parpbp UTSW 10 88093637 missense probably damaging 0.96
R8025:Parpbp UTSW 10 88093108 missense probably benign 0.36
Posted On2015-04-16