Incidental Mutation 'R6221:Hpf1'
ID504030
Institutional Source Beutler Lab
Gene Symbol Hpf1
Ensembl Gene ENSMUSG00000038005
Gene Namehistone PARylation factor 1
Synonyms2700029M09Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6221 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location60890418-60908671 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 60893774 bp
ZygosityHeterozygous
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]
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: 46,175,450 M108V probably benign Het
Adgrl1 C T 8: 83,937,687 Q1236* probably null Het
Adprhl1 T C 8: 13,225,634 I375V probably benign Het
Akap2 C T 4: 57,855,618 Q559* probably null Het
B020031M17Rik T G 13: 119,949,998 H24P probably damaging Het
Bsn A G 9: 108,105,566 S3663P unknown Het
Ccdc114 T C 7: 45,947,479 L410P probably damaging Het
Cfap44 A T 16: 44,437,186 Q1028L probably benign Het
Cftr A C 6: 18,282,501 T1067P probably benign Het
Col1a2 T C 6: 4,539,490 S1253P unknown Het
Dkk3 A G 7: 112,121,646 Y158H probably damaging Het
Dmxl1 A G 18: 49,871,732 Y949C probably damaging Het
E130311K13Rik T C 3: 63,915,731 Y164C probably benign Het
Evx1 T A 6: 52,316,783 V312E probably damaging Het
Fam240b T C 13: 64,481,777 N75S probably benign Het
Fat2 A G 11: 55,296,072 probably null Het
Fbn1 G T 2: 125,320,921 D2148E probably benign Het
Fzd4 A G 7: 89,404,892 H69R probably damaging Het
Fzd6 T C 15: 39,030,844 V135A probably benign Het
Gimap8 T C 6: 48,658,942 L547S probably damaging Het
Gm12394 A T 4: 42,793,153 N326K probably benign Het
Gnrhr G A 5: 86,185,403 Q203* probably null Het
Gpaa1 T G 15: 76,333,832 V341G probably benign Het
Grik3 T A 4: 125,705,123 L828Q probably damaging Het
Heatr5b T C 17: 78,766,954 N1568S probably benign Het
Hsd3b1 A T 3: 98,853,156 M173K probably benign Het
Hsd3b6 A G 3: 98,806,533 I150T probably benign Het
Ica1 C G 6: 8,644,181 L369F possibly damaging Het
Inf2 T G 12: 112,603,745 S293A possibly damaging Het
Klra10 T C 6: 130,269,272 T247A probably benign Het
Kpna1 G A 16: 36,020,688 G91D probably benign Het
Ldlrap1 C T 4: 134,757,360 E108K probably damaging Het
Ltb4r2 C T 14: 55,762,083 R54W probably damaging Het
Mki67 A G 7: 135,697,914 F1797S probably benign Het
Mlh3 C A 12: 85,268,418 Q331H possibly damaging Het
Nol11 G T 11: 107,171,616 T598K possibly damaging Het
Olfr1489 T A 19: 13,633,466 Y118* probably null Het
Oxct2b T C 4: 123,116,808 Y174H probably damaging Het
Pclo G A 5: 14,675,313 R1395Q unknown Het
Ppara A G 15: 85,777,680 I41V probably benign Het
Ppip5k2 A T 1: 97,730,028 I766K probably damaging Het
Ppm1j A G 3: 104,785,776 N483S possibly damaging Het
Prex2 T C 1: 11,266,012 I1478T probably benign Het
Ror2 T C 13: 53,113,217 Y394C probably damaging Het
Rsl1d1 A G 16: 11,201,311 V121A probably damaging Het
Sart3 C T 5: 113,743,206 A938T probably benign Het
Slc15a1 T C 14: 121,464,904 Q610R probably null Het
Slc1a6 A G 10: 78,800,076 E325G probably damaging Het
Slc7a13 A G 4: 19,839,305 I303V probably benign Het
Smc3 T A 19: 53,641,931 V1123E probably damaging Het
Smco1 G A 16: 32,273,205 V34I probably benign Het
Spag1 A G 15: 36,197,803 R304G probably benign Het
Spta1 A G 1: 174,181,776 D293G probably damaging Het
Sspo C A 6: 48,463,705 P1751Q probably damaging Het
Syt14 A T 1: 192,930,600 Y631N probably damaging Het
Taar3 A G 10: 23,950,072 N172S possibly damaging Het
Tank A G 2: 61,650,083 E321G probably damaging Het
Thbs1 C A 2: 118,119,997 L704M probably damaging Het
Tmem116 C T 5: 121,491,108 T188M probably benign Het
Togaram1 A T 12: 64,966,546 E190D probably damaging Het
Traf1 A C 2: 34,948,301 V175G probably benign Het
Trib3 A T 2: 152,338,608 C222S probably damaging Het
Tsen34 T A 7: 3,695,544 I229N probably damaging Het
Ttc28 A G 5: 111,271,248 D1370G probably benign Het
Ugt1a5 G A 1: 88,166,242 R64H probably benign Het
Vdac2 G A 14: 21,845,178 G265R possibly damaging Het
Vdac3 A G 8: 22,588,743 V17A possibly damaging Het
Yif1b C T 7: 29,245,782 T220I possibly damaging Het
Zfp846 T G 9: 20,593,295 H150Q possibly damaging Het
Zwilch A T 9: 64,161,383 H181Q probably damaging Het
Other mutations in Hpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Hpf1 APN 8 60896802 missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TGTATGGTGCCCATAAACTGG -3'
(R):5'- CTCACTAGAAAGAACTGTGGGAATG -3'

Sequencing Primer
(F):5'- CTGGCCAGTAAGCAATATTGGTG -3'
(R):5'- GCTGAGACTATAATAGGCATGTCACC -3'
Posted On2018-02-28