Incidental Mutation 'IGL01688:Hpf1'
ID 104032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpf1
Ensembl Gene ENSMUSG00000038005
Gene Name histone PARylation factor 1
Synonyms 2700029M09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01688
Quality Score
Status
Chromosome 8
Chromosomal Location 61342533-61360615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61349830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 153 (I153L)
Ref Sequence ENSEMBL: ENSMUSP00000047235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037190] [ENSMUST00000136098] [ENSMUST00000146863] [ENSMUST00000149267]
AlphaFold Q8CFE2
Predicted Effect probably benign
Transcript: ENSMUST00000037190
AA Change: I153L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047235
Gene: ENSMUSG00000038005
AA Change: I153L

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 silent
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 silent
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,985 (GRCm39) L59P probably damaging Het
Ccin A T 4: 43,984,985 (GRCm39) E464V possibly damaging Het
Cfap58 A G 19: 47,963,006 (GRCm39) D472G probably benign Het
Col28a1 C T 6: 7,998,517 (GRCm39) E1131K probably damaging Het
Cpne2 A G 8: 95,281,381 (GRCm39) T196A possibly damaging Het
Cul4a A T 8: 13,196,571 (GRCm39) R742* probably null Het
Cyp21a1 T A 17: 35,021,194 (GRCm39) I370F probably damaging Het
Ddx51 T C 5: 110,803,513 (GRCm39) F332L probably benign Het
Gm8232 A G 14: 44,671,179 (GRCm39) D29G unknown Het
Got1 A G 19: 43,512,775 (GRCm39) probably null Het
Gpat4 A G 8: 23,671,861 (GRCm39) I58T probably benign Het
Hdac3 T A 18: 38,087,932 (GRCm39) D12V possibly damaging Het
Helb T C 10: 119,944,885 (GRCm39) H217R probably damaging Het
Lgsn G A 1: 31,243,486 (GRCm39) D523N probably damaging Het
Lrrc63 A G 14: 75,322,422 (GRCm39) S561P possibly damaging Het
Myh6 G A 14: 55,201,417 (GRCm39) T94I possibly damaging Het
Mzt2 T C 16: 15,680,793 (GRCm39) probably benign Het
Ndufb5 T A 3: 32,800,613 (GRCm39) L62* probably null Het
Nek1 A T 8: 61,558,631 (GRCm39) R970* probably null Het
Nepro T C 16: 44,556,369 (GRCm39) L509P probably damaging Het
Pank1 T A 19: 34,818,252 (GRCm39) I96F probably damaging Het
Parp11 C A 6: 127,448,569 (GRCm39) T62K probably benign Het
Pla2g2e T A 4: 138,606,781 (GRCm39) probably benign Het
Plekha5 T A 6: 140,515,115 (GRCm39) Y207N probably damaging Het
Pomt2 T A 12: 87,194,294 (GRCm39) I37F probably benign Het
Prl6a1 T A 13: 27,501,969 (GRCm39) V117E probably damaging Het
Prmt3 T A 7: 49,498,480 (GRCm39) probably null Het
Rcor3 T A 1: 191,807,900 (GRCm39) E20V probably damaging Het
Rere A G 4: 150,702,893 (GRCm39) D1449G probably damaging Het
Ric1 T C 19: 29,555,014 (GRCm39) V376A probably benign Het
Rims1 G A 1: 22,467,764 (GRCm39) T873I probably benign Het
Rras2 T C 7: 113,659,632 (GRCm39) D44G probably damaging Het
Sbk2 C T 7: 4,960,716 (GRCm39) probably benign Het
Slit1 A G 19: 41,717,545 (GRCm39) I73T probably damaging Het
Spice1 T A 16: 44,205,073 (GRCm39) M793K probably benign Het
Suco T C 1: 161,691,480 (GRCm39) probably null Het
Tarbp1 A T 8: 127,174,290 (GRCm39) W839R probably damaging Het
Trpc4 T A 3: 54,173,495 (GRCm39) probably benign Het
Tubgcp5 T C 7: 55,464,766 (GRCm39) V549A possibly damaging Het
Ubap2 T A 4: 41,226,308 (GRCm39) T182S probably benign Het
Wrn A C 8: 33,800,730 (GRCm39) probably benign Het
Zc3h15 A G 2: 83,492,536 (GRCm39) Y337C probably damaging Het
Zfp292 T A 4: 34,807,855 (GRCm39) I1730F possibly damaging Het
Zfp609 A G 9: 65,611,307 (GRCm39) V552A probably benign Het
Other mutations in Hpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Hpf1 APN 8 61,349,836 (GRCm39) missense probably benign
IGL00977:Hpf1 APN 8 61,358,753 (GRCm39) missense probably benign 0.10
IGL01564:Hpf1 APN 8 61,343,513 (GRCm39) utr 5 prime probably benign
IGL02352:Hpf1 APN 8 61,349,836 (GRCm39) missense probably benign
IGL02359:Hpf1 APN 8 61,349,836 (GRCm39) missense probably benign
R0571:Hpf1 UTSW 8 61,353,147 (GRCm39) missense probably benign 0.02
R1016:Hpf1 UTSW 8 61,348,678 (GRCm39) missense possibly damaging 0.95
R1522:Hpf1 UTSW 8 61,349,783 (GRCm39) missense probably damaging 0.96
R1806:Hpf1 UTSW 8 61,353,154 (GRCm39) missense probably benign 0.01
R4652:Hpf1 UTSW 8 61,346,764 (GRCm39) missense possibly damaging 0.48
R4814:Hpf1 UTSW 8 61,346,841 (GRCm39) missense probably damaging 1.00
R5268:Hpf1 UTSW 8 61,346,768 (GRCm39) missense possibly damaging 0.92
R5645:Hpf1 UTSW 8 61,349,834 (GRCm39) missense possibly damaging 0.85
R6221:Hpf1 UTSW 8 61,346,808 (GRCm39) missense probably damaging 1.00
R7712:Hpf1 UTSW 8 61,358,613 (GRCm39) nonsense probably null
R8742:Hpf1 UTSW 8 61,346,748 (GRCm39) missense probably benign 0.00
R9388:Hpf1 UTSW 8 61,353,182 (GRCm39) missense probably benign 0.00
R9447:Hpf1 UTSW 8 61,348,618 (GRCm39) missense probably damaging 1.00
Z1177:Hpf1 UTSW 8 61,348,669 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21