Incidental Mutation 'R1710:Hfm1'
ID 190417
Institutional Source Beutler Lab
Gene Symbol Hfm1
Ensembl Gene ENSMUSG00000043410
Gene Name HFM1, ATP-dependent DNA helicase homolog
Synonyms LOC381663, A330009G12Rik, Mer3, Sec63d1
MMRRC Submission 039743-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1710 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 106840192-106926321 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106880514 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 817 (F817L)
Ref Sequence ENSEMBL: ENSMUSP00000112590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148495]
AlphaFold D3Z4R1
Predicted Effect probably damaging
Transcript: ENSMUST00000112690
AA Change: F817L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: F817L

DomainStartEndE-ValueType
DEXDc 276 490 3.66e-29 SMART
HELICc 571 657 1.56e-14 SMART
low complexity region 751 764 N/A INTRINSIC
Sec63 775 1090 5.66e-60 SMART
Blast:Sec63 1130 1188 2e-18 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000117588
AA Change: F817L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: F817L

DomainStartEndE-ValueType
DEXDc 276 490 3.66e-29 SMART
HELICc 571 657 1.56e-14 SMART
low complexity region 751 764 N/A INTRINSIC
Sec63 775 1090 5.66e-60 SMART
Blast:Sec63 1130 1188 2e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000148495
Predicted Effect unknown
Transcript: ENSMUST00000155171
AA Change: F74L
SMART Domains Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410
AA Change: F74L

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
Sec63 33 304 3.04e-42 SMART
Blast:Sec63 344 402 7e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183903
Meta Mutation Damage Score 0.3558 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (117/120)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]
PHENOTYPE: Meiosis ais disrupted in homozygotes and bothe sexes are sterile [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,468,063 (GRCm38) S249R possibly damaging Het
9130409I23Rik A G 1: 181,051,319 (GRCm38) M1V probably null Het
Acadvl T A 11: 70,010,355 (GRCm38) I638F probably damaging Het
Acnat2 T A 4: 49,380,587 (GRCm38) T264S probably benign Het
Acrv1 C T 9: 36,694,255 (GRCm38) Q33* probably null Het
Actrt3 T A 3: 30,599,752 (GRCm38) N33I probably damaging Het
Alyref2 T C 1: 171,503,600 (GRCm38) probably benign Het
Ank2 C A 3: 126,933,060 (GRCm38) E3712* probably null Het
Ano7 C A 1: 93,385,624 (GRCm38) H161Q probably benign Het
Arhgap10 C A 8: 77,358,587 (GRCm38) E451* probably null Het
Arhgap29 T A 3: 122,008,080 (GRCm38) Y748N probably damaging Het
Arhgap45 C T 10: 80,018,098 (GRCm38) Q149* probably null Het
Asap2 C T 12: 21,224,392 (GRCm38) H371Y probably damaging Het
Atp6v1b1 T C 6: 83,758,390 (GRCm38) I480T probably benign Het
BC034090 T C 1: 155,225,864 (GRCm38) D218G possibly damaging Het
Brdt A T 5: 107,343,584 (GRCm38) D74V probably damaging Het
C4b A G 17: 34,743,664 (GRCm38) probably benign Het
Card11 T A 5: 140,902,905 (GRCm38) K233* probably null Het
Catip T G 1: 74,362,770 (GRCm38) F35V possibly damaging Het
Ccdc13 C T 9: 121,819,581 (GRCm38) G247R probably damaging Het
Cep97 T A 16: 55,915,022 (GRCm38) D471V probably damaging Het
Col17a1 A T 19: 47,670,931 (GRCm38) L403Q probably damaging Het
Crbn A G 6: 106,790,945 (GRCm38) S194P possibly damaging Het
Dhx58 T A 11: 100,703,574 (GRCm38) H97L probably benign Het
Dnah8 T C 17: 30,854,940 (GRCm38) I4528T probably damaging Het
Dpyd A G 3: 118,610,443 (GRCm38) probably null Het
Entpd1 A T 19: 40,726,236 (GRCm38) Q263L probably benign Het
Esyt3 T C 9: 99,336,191 (GRCm38) I130M probably benign Het
Etv1 T C 12: 38,852,262 (GRCm38) F264S probably benign Het
Fam189a2 A T 19: 23,979,695 (GRCm38) I317N probably damaging Het
Fam196b T A 11: 34,404,263 (GRCm38) probably null Het
Fam45a A G 19: 60,817,583 (GRCm38) Y102C probably damaging Het
Fat1 T C 8: 45,010,482 (GRCm38) S1354P probably benign Het
Fat4 C A 3: 38,951,155 (GRCm38) T1901N probably damaging Het
Fbxw13 C T 9: 109,181,518 (GRCm38) V351I probably damaging Het
Fmo3 A G 1: 162,967,787 (GRCm38) F160L possibly damaging Het
Fyb2 T A 4: 105,003,916 (GRCm38) D592E probably damaging Het
Gjb4 T C 4: 127,351,870 (GRCm38) M93V possibly damaging Het
Gm5089 C A 14: 122,436,154 (GRCm38) G52* probably null Het
Gm6401 G T 14: 41,966,883 (GRCm38) N76K probably benign Het
Gm6871 A G 7: 41,546,477 (GRCm38) S279P probably damaging Het
Gtf2ird2 T G 5: 134,211,240 (GRCm38) V301G probably benign Het
H2bfm A C X: 136,927,467 (GRCm38) D35A unknown Het
Hivep2 A T 10: 14,129,505 (GRCm38) K616* probably null Het
Hmcn1 A T 1: 150,675,984 (GRCm38) I2623N probably damaging Het
Igf2bp3 G T 6: 49,105,631 (GRCm38) A339E probably damaging Het
Irx4 T C 13: 73,267,638 (GRCm38) I182T possibly damaging Het
Jcad T C 18: 4,674,511 (GRCm38) S758P probably damaging Het
Klhdc4 A T 8: 121,799,487 (GRCm38) Y304* probably null Het
Lama1 A G 17: 67,753,791 (GRCm38) I705V probably benign Het
Mbd5 A G 2: 49,257,032 (GRCm38) N418S probably benign Het
Mmp21 C T 7: 133,677,285 (GRCm38) V279I probably damaging Het
Morc4 A C X: 139,854,530 (GRCm38) C272W probably damaging Het
Mrm1 A T 11: 84,818,692 (GRCm38) C180S probably damaging Het
Ncor1 T C 11: 62,423,005 (GRCm38) D103G probably damaging Het
Ndrg4 A G 8: 95,710,686 (GRCm38) D251G probably damaging Het
Ndufaf5 T C 2: 140,193,602 (GRCm38) V246A possibly damaging Het
Noa1 T C 5: 77,309,725 (GRCm38) E111G possibly damaging Het
Nod1 C A 6: 54,944,059 (GRCm38) V425F probably damaging Het
Nos1 A T 5: 117,895,919 (GRCm38) I369F probably damaging Het
Nsun5 C T 5: 135,371,316 (GRCm38) H98Y probably damaging Het
Olfr1013 C T 2: 85,769,855 (GRCm38) T18I probably benign Het
Olfr172 A G 16: 58,761,141 (GRCm38) F12L probably benign Het
Olfr292 G A 7: 86,695,110 (GRCm38) R218H probably benign Het
Olfr726 C G 14: 50,084,370 (GRCm38) V104L probably benign Het
Olfr933 A G 9: 38,975,906 (GRCm38) I77V probably damaging Het
Olfr945 T C 9: 39,258,571 (GRCm38) I37V probably benign Het
Optn G A 2: 5,053,130 (GRCm38) T76I possibly damaging Het
Oscar C T 7: 3,611,856 (GRCm38) W22* probably null Het
Palmd T A 3: 116,923,657 (GRCm38) Y397F probably damaging Het
Plk1 A G 7: 122,168,898 (GRCm38) D447G probably damaging Het
Plscr5 T A 9: 92,205,528 (GRCm38) N183K probably damaging Het
Polk T G 13: 96,489,204 (GRCm38) D364A probably damaging Het
Polr3d T C 14: 70,443,010 (GRCm38) T36A probably benign Het
Ppp1r10 A T 17: 35,926,536 (GRCm38) R199S probably damaging Het
Prkcz C T 4: 155,262,512 (GRCm38) D388N probably damaging Het
Prrc2b T C 2: 32,212,222 (GRCm38) L769P probably damaging Het
Psg26 A G 7: 18,480,041 (GRCm38) V232A probably damaging Het
Pth2r T C 1: 65,336,838 (GRCm38) V85A possibly damaging Het
Rbpms2 T C 9: 65,659,212 (GRCm38) probably benign Het
Reps1 A T 10: 18,118,950 (GRCm38) D514V possibly damaging Het
Riok3 G T 18: 12,142,961 (GRCm38) R238L probably benign Het
Rnf19a T C 15: 36,244,207 (GRCm38) Q569R probably damaging Het
Rorb G A 19: 18,960,501 (GRCm38) T267I probably damaging Het
Rrm2b A T 15: 37,929,096 (GRCm38) M70K probably damaging Het
Rsf1 A T 7: 97,662,349 (GRCm38) E762V possibly damaging Het
S100a2 G A 3: 90,591,392 (GRCm38) V67I probably benign Het
Skp1a T A 11: 52,242,615 (GRCm38) D42E probably benign Het
Slc22a4 A T 11: 54,027,975 (GRCm38) M1K probably null Het
Slc2a9 T A 5: 38,382,044 (GRCm38) Q371L probably damaging Het
Slc4a9 A G 18: 36,532,022 (GRCm38) T475A probably benign Het
Slc8b1 A G 5: 120,519,652 (GRCm38) N60S probably damaging Het
Slx4 A C 16: 3,999,158 (GRCm38) D66E probably benign Het
Smg8 A T 11: 87,086,287 (GRCm38) I156N probably damaging Het
Snx25 A T 8: 46,116,207 (GRCm38) C218S possibly damaging Het
Sulf2 T C 2: 166,079,072 (GRCm38) I784V probably benign Het
Tatdn2 G T 6: 113,697,927 (GRCm38) R72L possibly damaging Het
Tbc1d8 T C 1: 39,406,837 (GRCm38) D91G possibly damaging Het
Tifab C A 13: 56,176,620 (GRCm38) R3S probably benign Het
Tm4sf1 A T 3: 57,292,883 (GRCm38) S104T probably damaging Het
Tmem132e T A 11: 82,443,517 (GRCm38) I618N probably damaging Het
Ttc7b A T 12: 100,403,408 (GRCm38) D367E probably damaging Het
Txlnb A G 10: 17,843,455 (GRCm38) D678G possibly damaging Het
Vgll4 A G 6: 114,957,934 (GRCm38) probably null Het
Vmn2r124 A T 17: 18,061,925 (GRCm38) probably benign Het
Vmn2r2 T C 3: 64,117,399 (GRCm38) D587G probably benign Het
Vmn2r84 G A 10: 130,391,099 (GRCm38) A290V probably benign Het
Vps13c T A 9: 67,911,529 (GRCm38) S1077R probably benign Het
Vsig10 C T 5: 117,351,654 (GRCm38) A495V probably benign Het
Vwa3a A T 7: 120,804,031 (GRCm38) probably null Het
Zfhx2 C A 14: 55,065,998 (GRCm38) A1510S possibly damaging Het
Zfp142 T A 1: 74,572,230 (GRCm38) D601V probably damaging Het
Zfp62 T C 11: 49,217,683 (GRCm38) I867T probably benign Het
Other mutations in Hfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Hfm1 APN 5 106,902,130 (GRCm38) missense possibly damaging 0.70
IGL01295:Hfm1 APN 5 106,917,606 (GRCm38) missense possibly damaging 0.46
IGL01725:Hfm1 APN 5 106,917,379 (GRCm38) missense probably benign 0.00
IGL01758:Hfm1 APN 5 106,904,793 (GRCm38) missense probably damaging 0.99
IGL01911:Hfm1 APN 5 106,911,544 (GRCm38) missense possibly damaging 0.92
IGL02337:Hfm1 APN 5 106,904,267 (GRCm38) missense possibly damaging 0.81
IGL02472:Hfm1 APN 5 106,873,928 (GRCm38) splice site probably benign
IGL02496:Hfm1 APN 5 106,901,761 (GRCm38) missense probably benign 0.00
IGL02545:Hfm1 APN 5 106,895,287 (GRCm38) missense probably damaging 1.00
IGL02584:Hfm1 APN 5 106,878,662 (GRCm38) splice site probably null
IGL02728:Hfm1 APN 5 106,878,823 (GRCm38) missense probably benign 0.13
IGL02881:Hfm1 APN 5 106,874,252 (GRCm38) missense probably damaging 1.00
IGL03108:Hfm1 APN 5 106,895,934 (GRCm38) unclassified probably benign
IGL03351:Hfm1 APN 5 106,911,575 (GRCm38) nonsense probably null
IGL03353:Hfm1 APN 5 106,856,929 (GRCm38) missense probably damaging 0.99
R0024:Hfm1 UTSW 5 106,856,924 (GRCm38) missense probably benign 0.41
R0024:Hfm1 UTSW 5 106,856,924 (GRCm38) missense probably benign 0.41
R0094:Hfm1 UTSW 5 106,917,478 (GRCm38) missense probably benign
R0633:Hfm1 UTSW 5 106,917,601 (GRCm38) missense possibly damaging 0.56
R0644:Hfm1 UTSW 5 106,898,256 (GRCm38) critical splice donor site probably null
R1078:Hfm1 UTSW 5 106,878,830 (GRCm38) missense probably damaging 1.00
R1120:Hfm1 UTSW 5 106,904,218 (GRCm38) splice site probably benign
R1166:Hfm1 UTSW 5 106,911,411 (GRCm38) missense probably benign 0.00
R1242:Hfm1 UTSW 5 106,874,901 (GRCm38) missense probably damaging 0.99
R1414:Hfm1 UTSW 5 106,872,353 (GRCm38) missense probably benign 0.01
R1450:Hfm1 UTSW 5 106,918,458 (GRCm38) missense probably damaging 0.99
R1529:Hfm1 UTSW 5 106,853,123 (GRCm38) missense probably benign 0.00
R1622:Hfm1 UTSW 5 106,893,523 (GRCm38) missense possibly damaging 0.58
R1710:Hfm1 UTSW 5 106,896,003 (GRCm38) missense probably damaging 0.96
R1757:Hfm1 UTSW 5 106,880,360 (GRCm38) splice site probably null
R1856:Hfm1 UTSW 5 106,847,676 (GRCm38) missense probably benign 0.00
R1984:Hfm1 UTSW 5 106,898,576 (GRCm38) missense probably damaging 0.98
R1985:Hfm1 UTSW 5 106,898,576 (GRCm38) missense probably damaging 0.98
R2040:Hfm1 UTSW 5 106,901,818 (GRCm38) missense probably damaging 1.00
R2122:Hfm1 UTSW 5 106,896,255 (GRCm38) missense probably damaging 1.00
R2426:Hfm1 UTSW 5 106,847,653 (GRCm38) splice site probably null
R2474:Hfm1 UTSW 5 106,872,416 (GRCm38) missense possibly damaging 0.81
R2926:Hfm1 UTSW 5 106,874,282 (GRCm38) nonsense probably null
R2944:Hfm1 UTSW 5 106,872,330 (GRCm38) missense probably damaging 1.00
R3705:Hfm1 UTSW 5 106,892,839 (GRCm38) unclassified probably benign
R4256:Hfm1 UTSW 5 106,904,797 (GRCm38) missense possibly damaging 0.83
R4455:Hfm1 UTSW 5 106,886,508 (GRCm38) splice site probably null
R4538:Hfm1 UTSW 5 106,874,890 (GRCm38) missense possibly damaging 0.47
R4540:Hfm1 UTSW 5 106,874,221 (GRCm38) nonsense probably null
R4591:Hfm1 UTSW 5 106,847,667 (GRCm38) missense probably benign 0.08
R4745:Hfm1 UTSW 5 106,901,843 (GRCm38) missense possibly damaging 0.87
R4747:Hfm1 UTSW 5 106,917,523 (GRCm38) missense probably benign
R4765:Hfm1 UTSW 5 106,842,539 (GRCm38) missense probably benign 0.21
R4821:Hfm1 UTSW 5 106,854,740 (GRCm38) critical splice donor site probably null
R4842:Hfm1 UTSW 5 106,892,751 (GRCm38) missense probably damaging 1.00
R4944:Hfm1 UTSW 5 106,874,213 (GRCm38) missense possibly damaging 0.46
R5093:Hfm1 UTSW 5 106,901,731 (GRCm38) missense probably damaging 1.00
R5399:Hfm1 UTSW 5 106,917,562 (GRCm38) missense possibly damaging 0.91
R5414:Hfm1 UTSW 5 106,902,076 (GRCm38) missense probably damaging 1.00
R5436:Hfm1 UTSW 5 106,892,772 (GRCm38) missense possibly damaging 0.61
R5459:Hfm1 UTSW 5 106,904,763 (GRCm38) missense probably damaging 1.00
R5485:Hfm1 UTSW 5 106,847,662 (GRCm38) critical splice donor site probably null
R5585:Hfm1 UTSW 5 106,911,439 (GRCm38) missense probably benign 0.05
R5631:Hfm1 UTSW 5 106,904,763 (GRCm38) missense probably damaging 1.00
R5705:Hfm1 UTSW 5 106,911,453 (GRCm38) missense probably benign 0.21
R5804:Hfm1 UTSW 5 106,878,589 (GRCm38) splice site probably null
R5959:Hfm1 UTSW 5 106,874,917 (GRCm38) missense probably damaging 1.00
R6046:Hfm1 UTSW 5 106,898,643 (GRCm38) splice site probably null
R6191:Hfm1 UTSW 5 106,886,553 (GRCm38) missense possibly damaging 0.95
R6345:Hfm1 UTSW 5 106,841,638 (GRCm38) missense probably benign
R6580:Hfm1 UTSW 5 106,847,709 (GRCm38) missense probably benign 0.00
R6651:Hfm1 UTSW 5 106,847,687 (GRCm38) missense probably benign 0.00
R6761:Hfm1 UTSW 5 106,895,279 (GRCm38) missense probably damaging 1.00
R6835:Hfm1 UTSW 5 106,878,815 (GRCm38) nonsense probably null
R6891:Hfm1 UTSW 5 106,917,374 (GRCm38) missense possibly damaging 0.49
R6924:Hfm1 UTSW 5 106,850,410 (GRCm38) splice site probably null
R6980:Hfm1 UTSW 5 106,880,477 (GRCm38) missense probably benign 0.31
R7054:Hfm1 UTSW 5 106,896,043 (GRCm38) missense probably benign 0.01
R7058:Hfm1 UTSW 5 106,911,440 (GRCm38) missense probably benign 0.04
R7189:Hfm1 UTSW 5 106,901,703 (GRCm38) critical splice donor site probably null
R7250:Hfm1 UTSW 5 106,904,331 (GRCm38) missense probably benign 0.00
R7376:Hfm1 UTSW 5 106,895,218 (GRCm38) missense possibly damaging 0.95
R7577:Hfm1 UTSW 5 106,896,043 (GRCm38) missense probably benign 0.01
R7636:Hfm1 UTSW 5 106,917,466 (GRCm38) missense probably benign 0.02
R7639:Hfm1 UTSW 5 106,898,475 (GRCm38) missense possibly damaging 0.46
R7639:Hfm1 UTSW 5 106,889,925 (GRCm38) missense probably benign 0.03
R7763:Hfm1 UTSW 5 106,881,861 (GRCm38) missense probably damaging 1.00
R7828:Hfm1 UTSW 5 106,881,791 (GRCm38) critical splice donor site probably null
R7905:Hfm1 UTSW 5 106,898,553 (GRCm38) missense probably damaging 1.00
R8160:Hfm1 UTSW 5 106,896,033 (GRCm38) missense probably null 0.00
R8477:Hfm1 UTSW 5 106,881,818 (GRCm38) missense probably benign 0.01
R8739:Hfm1 UTSW 5 106,898,505 (GRCm38) missense probably damaging 0.96
R8968:Hfm1 UTSW 5 106,917,573 (GRCm38) missense probably benign 0.00
R9072:Hfm1 UTSW 5 106,898,280 (GRCm38) missense probably benign 0.04
R9073:Hfm1 UTSW 5 106,898,280 (GRCm38) missense probably benign 0.04
R9152:Hfm1 UTSW 5 106,841,745 (GRCm38) missense probably benign 0.01
R9234:Hfm1 UTSW 5 106,893,468 (GRCm38) missense probably benign
R9244:Hfm1 UTSW 5 106,874,900 (GRCm38) missense probably damaging 0.96
R9576:Hfm1 UTSW 5 106,874,072 (GRCm38) missense probably benign 0.00
R9649:Hfm1 UTSW 5 106,918,463 (GRCm38) missense possibly damaging 0.82
R9743:Hfm1 UTSW 5 106,874,259 (GRCm38) missense possibly damaging 0.55
R9782:Hfm1 UTSW 5 106,874,030 (GRCm38) missense probably benign 0.38
R9789:Hfm1 UTSW 5 106,917,480 (GRCm38) missense probably benign 0.00
Z1177:Hfm1 UTSW 5 106,871,820 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAGCTACTGTAATGAAGGGACCAAC -3'
(R):5'- CCGTCTCAACGTCTGCCATATAGAAG -3'

Sequencing Primer
(F):5'- CAGACTTCTGCTGGAAACATGG -3'
(R):5'- TGTTAGTGAGTGAATCCTTAAAGAAG -3'
Posted On 2014-05-14