Incidental Mutation 'IGL00767:Hpf1'
ID8444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpf1
Ensembl Gene ENSMUSG00000038005
Gene Namehistone PARylation factor 1
Synonyms2700029M09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00767
Quality Score
Status
Chromosome8
Chromosomal Location60890418-60908671 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60896802 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 155 (I155V)
Ref Sequence ENSEMBL: ENSMUSP00000047235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037190] [ENSMUST00000136098] [ENSMUST00000146863] [ENSMUST00000149267]
Predicted Effect probably benign
Transcript: ENSMUST00000037190
AA Change: I155V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047235
Gene: ENSMUSG00000038005
AA Change: I155V

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:DUF2228 77 328 7e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134886
Predicted Effect probably benign
Transcript: ENSMUST00000136098
SMART Domains Protein: ENSMUSP00000119448
Gene: ENSMUSG00000038005

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146863
Predicted Effect probably benign
Transcript: ENSMUST00000149267
SMART Domains Protein: ENSMUSP00000118277
Gene: ENSMUSG00000038005

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,334,750 probably benign Het
Anpep A C 7: 79,840,890 S293A probably benign Het
Dgkh T A 14: 78,587,261 probably benign Het
Dlg5 T A 14: 24,165,285 T657S probably damaging Het
Il12rb2 T C 6: 67,303,562 I554V possibly damaging Het
Mindy2 A G 9: 70,634,003 probably null Het
Nostrin A G 2: 69,175,775 T268A probably benign Het
Npy6r A G 18: 44,276,318 T269A probably benign Het
Nt5dc3 T A 10: 86,820,273 probably benign Het
Osgin2 G A 4: 16,006,377 H106Y probably damaging Het
Pdlim3 G A 8: 45,896,790 G46R probably damaging Het
Pdpk1 T G 17: 24,106,861 K147N possibly damaging Het
Pfkfb3 T C 2: 11,488,754 D137G probably damaging Het
Polg G A 7: 79,451,925 P1048S probably damaging Het
Ptcd3 A T 6: 71,903,448 I97K probably damaging Het
Serpinb10 G T 1: 107,536,077 V30F possibly damaging Het
Stk17b A G 1: 53,764,023 probably benign Het
Tll1 G A 8: 64,071,321 R444C probably damaging Het
Ttbk2 A G 2: 120,745,745 V848A probably benign Het
Ttn T C 2: 76,885,673 probably benign Het
Other mutations in Hpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Hpf1 APN 8 60905719 missense probably benign 0.10
IGL01564:Hpf1 APN 8 60890479 utr 5 prime probably benign
IGL01688:Hpf1 APN 8 60896796 missense probably benign
IGL02352:Hpf1 APN 8 60896802 missense probably benign
IGL02359:Hpf1 APN 8 60896802 missense probably benign
R0571:Hpf1 UTSW 8 60900113 missense probably benign 0.02
R1016:Hpf1 UTSW 8 60895644 missense possibly damaging 0.95
R1522:Hpf1 UTSW 8 60896749 missense probably damaging 0.96
R1806:Hpf1 UTSW 8 60900120 missense probably benign 0.01
R4652:Hpf1 UTSW 8 60893730 missense possibly damaging 0.48
R4814:Hpf1 UTSW 8 60893807 missense probably damaging 1.00
R5268:Hpf1 UTSW 8 60893734 missense possibly damaging 0.92
R5645:Hpf1 UTSW 8 60896800 missense possibly damaging 0.85
R6221:Hpf1 UTSW 8 60893774 missense probably damaging 1.00
Posted On2012-12-06