Incidental Mutation 'R6221:Hpf1'
ID 504030
Institutional Source Beutler Lab
Gene Symbol Hpf1
Ensembl Gene ENSMUSG00000038005
Gene Name histone PARylation factor 1
Synonyms 2700029M09Rik
MMRRC Submission 044432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6221 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 61342533-61360615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61346808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 41 (V41E)
Ref Sequence ENSEMBL: ENSMUSP00000118277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037190] [ENSMUST00000136098] [ENSMUST00000146863] [ENSMUST00000149267]
AlphaFold Q8CFE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000037190
AA Change: V41E

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047235
Gene: ENSMUSG00000038005
AA Change: V41E

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 damaging
Transcript: ENSMUST00000136098
AA Change: V41E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119448
Gene: ENSMUSG00000038005
AA Change: V41E

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146863
Predicted Effect probably damaging
Transcript: ENSMUST00000149267
AA Change: V41E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118277
Gene: ENSMUSG00000038005
AA Change: V41E

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,824,874 (GRCm39) M108V probably benign Het
Adgrl1 C T 8: 84,664,316 (GRCm39) Q1236* probably null Het
Adprhl1 T C 8: 13,275,634 (GRCm39) I375V probably benign Het
Bsn A G 9: 107,982,765 (GRCm39) S3663P unknown Het
Cfap44 A T 16: 44,257,549 (GRCm39) Q1028L probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Col1a2 T C 6: 4,539,490 (GRCm39) S1253P unknown Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Dmxl1 A G 18: 50,004,799 (GRCm39) Y949C probably damaging Het
E130311K13Rik T C 3: 63,823,152 (GRCm39) Y164C probably benign Het
Evx1 T A 6: 52,293,768 (GRCm39) V312E probably damaging Het
Fam240b T C 13: 64,629,591 (GRCm39) N75S probably benign Het
Fat2 A G 11: 55,186,898 (GRCm39) probably null Het
Fbn1 G T 2: 125,162,841 (GRCm39) D2148E probably benign Het
Fzd4 A G 7: 89,054,100 (GRCm39) H69R probably damaging Het
Fzd6 T C 15: 38,894,239 (GRCm39) V135A probably benign Het
Gimap8 T C 6: 48,635,876 (GRCm39) L547S probably damaging Het
Gnrhr G A 5: 86,333,262 (GRCm39) Q203* probably null Het
Gpaa1 T G 15: 76,218,032 (GRCm39) V341G probably benign Het
Grik3 T A 4: 125,598,916 (GRCm39) L828Q probably damaging Het
Heatr5b T C 17: 79,074,383 (GRCm39) N1568S probably benign Het
Hsd3b1 A T 3: 98,760,472 (GRCm39) M173K probably benign Het
Hsd3b6 A G 3: 98,713,849 (GRCm39) I150T probably benign Het
Ica1 C G 6: 8,644,181 (GRCm39) L369F possibly damaging Het
Inf2 T G 12: 112,570,179 (GRCm39) S293A possibly damaging Het
Klra10 T C 6: 130,246,235 (GRCm39) T247A probably benign Het
Kpna1 G A 16: 35,841,058 (GRCm39) G91D probably benign Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Ltb4r2 C T 14: 55,999,540 (GRCm39) R54W probably damaging Het
Mki67 A G 7: 135,299,643 (GRCm39) F1797S probably benign Het
Mlh3 C A 12: 85,315,192 (GRCm39) Q331H possibly damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Odad1 T C 7: 45,596,903 (GRCm39) L410P probably damaging Het
Or5b124 T A 19: 13,610,830 (GRCm39) Y118* probably null Het
Oxct2b T C 4: 123,010,601 (GRCm39) Y174H probably damaging Het
Pakap C T 4: 57,855,618 (GRCm39) Q559* probably null Het
Pclo G A 5: 14,725,327 (GRCm39) R1395Q unknown Het
Ppara A G 15: 85,661,881 (GRCm39) I41V probably benign Het
Ppip5k2 A T 1: 97,657,753 (GRCm39) I766K probably damaging Het
Ppm1j A G 3: 104,693,092 (GRCm39) N483S possibly damaging Het
Prex2 T C 1: 11,336,236 (GRCm39) I1478T probably benign Het
Ror2 T C 13: 53,267,253 (GRCm39) Y394C probably damaging Het
Rsl1d1 A G 16: 11,019,175 (GRCm39) V121A probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Slc15a1 T C 14: 121,702,316 (GRCm39) Q610R probably null Het
Slc1a6 A G 10: 78,635,910 (GRCm39) E325G probably damaging Het
Slc7a13 A G 4: 19,839,305 (GRCm39) I303V probably benign Het
Smc3 T A 19: 53,630,362 (GRCm39) V1123E probably damaging Het
Smco1 G A 16: 32,092,023 (GRCm39) V34I probably benign Het
Spag1 A G 15: 36,197,949 (GRCm39) R304G probably benign Het
Spata31f1e A T 4: 42,793,153 (GRCm39) N326K probably benign Het
Spta1 A G 1: 174,009,342 (GRCm39) D293G probably damaging Het
Sspo C A 6: 48,440,639 (GRCm39) P1751Q probably damaging Het
Syt14 A T 1: 192,612,908 (GRCm39) Y631N probably damaging Het
Taar3 A G 10: 23,825,970 (GRCm39) N172S possibly damaging Het
Tank A G 2: 61,480,427 (GRCm39) E321G probably damaging Het
Tcstv5 T G 13: 120,411,534 (GRCm39) H24P probably damaging Het
Thbs1 C A 2: 117,950,478 (GRCm39) L704M probably damaging Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Togaram1 A T 12: 65,013,320 (GRCm39) E190D probably damaging Het
Traf1 A C 2: 34,838,313 (GRCm39) V175G probably benign Het
Trib3 A T 2: 152,180,528 (GRCm39) C222S probably damaging Het
Tsen34 T A 7: 3,698,543 (GRCm39) I229N probably damaging Het
Ttc28 A G 5: 111,419,114 (GRCm39) D1370G probably benign Het
Ugt1a5 G A 1: 88,093,964 (GRCm39) R64H probably benign Het
Vdac2 G A 14: 21,895,246 (GRCm39) G265R possibly damaging Het
Vdac3 A G 8: 23,078,759 (GRCm39) V17A possibly damaging Het
Yif1b C T 7: 28,945,207 (GRCm39) T220I possibly damaging Het
Zfp846 T G 9: 20,504,591 (GRCm39) H150Q possibly damaging Het
Zwilch A T 9: 64,068,665 (GRCm39) H181Q probably damaging 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
IGL01688:Hpf1 APN 8 61,349,830 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- TGTATGGTGCCCATAAACTGG -3'
(R):5'- CTCACTAGAAAGAACTGTGGGAATG -3'

Sequencing Primer
(F):5'- CTGGCCAGTAAGCAATATTGGTG -3'
(R):5'- GCTGAGACTATAATAGGCATGTCACC -3'
Posted On 2018-02-28