Incidental Mutation 'R1450:Hfm1'
ID 162138
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 039505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1450 (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 106918458 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 35 (F35L)
Ref Sequence ENSEMBL: ENSMUSP00000112590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148686] [ENSMUST00000200249]
AlphaFold D3Z4R1
Predicted Effect probably damaging
Transcript: ENSMUST00000112690
AA Change: F35L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: F35L

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: F35L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: F35L

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 noncoding transcript
Transcript: ENSMUST00000134292
Predicted Effect probably benign
Transcript: ENSMUST00000148686
Predicted Effect probably damaging
Transcript: ENSMUST00000200249
AA Change: F35L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410
AA Change: F35L

DomainStartEndE-ValueType
Pfam:ResIII 260 410 9.9e-7 PFAM
Pfam:DEAD 281 410 1.5e-19 PFAM
Meta Mutation Damage Score 0.0883 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.8%
Validation Efficiency 96% (73/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013F07Rik T A 3: 108,542,483 (GRCm38) probably null Het
Abca13 A T 11: 9,430,531 (GRCm38) probably benign Het
Adh4 C T 3: 138,424,174 (GRCm38) P254S probably damaging Het
Amfr T C 8: 93,987,747 (GRCm38) T223A probably benign Het
Ank2 T C 3: 126,957,302 (GRCm38) T412A possibly damaging Het
Bag6 T A 17: 35,141,958 (GRCm38) D422E probably benign Het
Ccdc185 T G 1: 182,747,564 (GRCm38) Q520P possibly damaging Het
Clock G A 5: 76,262,731 (GRCm38) Q98* probably null Het
Cngb3 A T 4: 19,395,922 (GRCm38) probably benign Het
Csmd1 T G 8: 15,945,180 (GRCm38) probably null Het
Cubn A G 2: 13,360,319 (GRCm38) L1636P probably damaging Het
Dennd4a A G 9: 64,911,665 (GRCm38) I1701V probably benign Het
Dgcr2 T C 16: 17,856,814 (GRCm38) H243R possibly damaging Het
Dimt1 A G 13: 106,947,643 (GRCm38) N46S probably benign Het
Dnah9 T C 11: 65,927,786 (GRCm38) Y58C probably damaging Het
Dsg1b T A 18: 20,409,184 (GRCm38) V916E probably damaging Het
Dst T C 1: 34,188,395 (GRCm38) S1690P probably damaging Het
Dst T A 1: 34,212,259 (GRCm38) I2131K probably damaging Het
Epb41l1 T C 2: 156,511,825 (GRCm38) probably benign Het
Fem1a T C 17: 56,257,579 (GRCm38) V224A probably damaging Het
Got2 C T 8: 95,871,986 (GRCm38) E203K probably benign Het
Hcar2 A T 5: 123,864,750 (GRCm38) I230N probably damaging Het
Herc3 A T 6: 58,876,515 (GRCm38) K554* probably null Het
Hmcn1 A G 1: 150,652,506 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hs2st1 C T 3: 144,434,718 (GRCm38) probably benign Het
Igfbp5 T A 1: 72,873,889 (GRCm38) D84V probably benign Het
Ints3 C A 3: 90,432,828 (GRCm38) L41F probably damaging Het
Ipo5 T C 14: 120,944,393 (GRCm38) V966A probably benign Het
Kif26a C T 12: 112,173,852 (GRCm38) T505M probably damaging Het
Kpna2 A G 11: 106,997,309 (GRCm38) S2P probably benign Het
Lct A G 1: 128,307,903 (GRCm38) S456P probably damaging Het
Lonrf2 G A 1: 38,813,276 (GRCm38) P165S probably benign Het
Lrrc7 T G 3: 158,187,044 (GRCm38) I323L possibly damaging Het
Ly6g A G 15: 75,158,633 (GRCm38) K77R probably benign Het
Maea T C 5: 33,365,800 (GRCm38) probably null Het
Marco A T 1: 120,476,745 (GRCm38) probably benign Het
Mcmbp G T 7: 128,715,931 (GRCm38) probably benign Het
Mtr T A 13: 12,193,733 (GRCm38) R1017W probably damaging Het
Myo15 T A 11: 60,495,482 (GRCm38) I1811N probably damaging Het
Nbeal2 G A 9: 110,633,672 (GRCm38) probably benign Het
Nlrp10 A G 7: 108,925,388 (GRCm38) V295A probably damaging Het
Olfr1328 T C 4: 118,934,510 (GRCm38) T111A probably benign Het
Olfr513 A T 7: 108,755,512 (GRCm38) I219F probably damaging Het
Olfr616 A G 7: 103,564,451 (GRCm38) V276A probably benign Het
Pde4b A T 4: 102,601,635 (GRCm38) Q496L probably damaging Het
Peg12 C A 7: 62,463,576 (GRCm38) G258* probably null Het
Pigc A G 1: 161,971,253 (GRCm38) Y268C probably benign Het
Pnisr G T 4: 21,874,912 (GRCm38) probably null Het
Poteg T C 8: 27,447,843 (GRCm38) F5S probably benign Het
Prss40 T A 1: 34,556,097 (GRCm38) I101F probably benign Het
Ptges3l T A 11: 101,421,905 (GRCm38) D113V possibly damaging Het
Raver2 T C 4: 101,136,152 (GRCm38) S510P possibly damaging Het
Rgr A T 14: 37,044,684 (GRCm38) C94* probably null Het
Rp1l1 T A 14: 64,028,150 (GRCm38) I395N probably benign Het
Sesn3 T A 9: 14,316,224 (GRCm38) H168Q possibly damaging Het
Soga3 A T 10: 29,147,740 (GRCm38) N361I probably damaging Het
Sox30 C A 11: 46,017,271 (GRCm38) P755Q probably damaging Het
Stac3 T C 10: 127,504,885 (GRCm38) F173S probably damaging Het
Synj2 C A 17: 6,027,324 (GRCm38) probably benign Het
Tarsl2 A T 7: 65,647,496 (GRCm38) I120L probably benign Het
Tas2r124 A G 6: 132,755,056 (GRCm38) I109M probably damaging Het
Tm4sf19 A T 16: 32,407,963 (GRCm38) H190L probably damaging Het
Tmem143 T G 7: 45,907,108 (GRCm38) V179G probably damaging Het
Ubr4 T C 4: 139,468,028 (GRCm38) F1187S probably damaging Het
Ubtfl1 A G 9: 18,409,913 (GRCm38) R246G possibly damaging Het
Zdhhc5 A G 2: 84,702,389 (GRCm38) F57S probably damaging Het
Zfp40 A T 17: 23,175,258 (GRCm38) M717K 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
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
R1710:Hfm1 UTSW 5 106,880,514 (GRCm38) missense probably damaging 1.00
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'- TCACTGACTACACTTCAGAATCTGGCT -3'
(R):5'- CCAGGACAGAGAGTTTGTCTATGGGA -3'

Sequencing Primer
(F):5'- TCAGAATCTGGCTTTCTGAAAAC -3'
(R):5'- ATGCTTGTCTAAGAGTTTGCACC -3'
Posted On 2014-03-14