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: 0.080) question?
Stock # R1450 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 106988058-107074187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107066324 bp (GRCm39)
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
Abca13 A T 11: 9,380,531 (GRCm39) probably benign Het
Adh4 C T 3: 138,129,935 (GRCm39) P254S probably damaging Het
Amfr T C 8: 94,714,375 (GRCm39) T223A probably benign Het
Ank2 T C 3: 126,750,951 (GRCm39) T412A possibly damaging Het
Bag6 T A 17: 35,360,934 (GRCm39) D422E probably benign Het
Ccdc185 T G 1: 182,575,129 (GRCm39) Q520P possibly damaging Het
Cfap276 T A 3: 108,449,799 (GRCm39) probably null Het
Clock G A 5: 76,410,578 (GRCm39) Q98* probably null Het
Cngb3 A T 4: 19,395,922 (GRCm39) probably benign Het
Csmd1 T G 8: 15,995,180 (GRCm39) probably null Het
Cubn A G 2: 13,365,130 (GRCm39) L1636P probably damaging Het
Dennd4a A G 9: 64,818,947 (GRCm39) I1701V probably benign Het
Dgcr2 T C 16: 17,674,678 (GRCm39) H243R possibly damaging Het
Dimt1 A G 13: 107,084,151 (GRCm39) N46S probably benign Het
Dnah9 T C 11: 65,818,612 (GRCm39) Y58C probably damaging Het
Dsg1b T A 18: 20,542,241 (GRCm39) V916E probably damaging Het
Dst T C 1: 34,227,476 (GRCm39) S1690P probably damaging Het
Dst T A 1: 34,251,340 (GRCm39) I2131K probably damaging Het
Epb41l1 T C 2: 156,353,745 (GRCm39) probably benign Het
Fem1a T C 17: 56,564,579 (GRCm39) V224A probably damaging Het
Got2 C T 8: 96,598,614 (GRCm39) E203K probably benign Het
Hcar2 A T 5: 124,002,813 (GRCm39) I230N probably damaging Het
Herc3 A T 6: 58,853,500 (GRCm39) K554* probably null Het
Hmcn1 A G 1: 150,528,257 (GRCm39) probably benign Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hs2st1 C T 3: 144,140,479 (GRCm39) probably benign Het
Igfbp5 T A 1: 72,913,048 (GRCm39) D84V probably benign Het
Ints3 C A 3: 90,340,135 (GRCm39) L41F probably damaging Het
Ipo5 T C 14: 121,181,805 (GRCm39) V966A probably benign Het
Kif26a C T 12: 112,140,286 (GRCm39) T505M probably damaging Het
Kpna2 A G 11: 106,888,135 (GRCm39) S2P probably benign Het
Lct A G 1: 128,235,640 (GRCm39) S456P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc7 T G 3: 157,892,681 (GRCm39) I323L possibly damaging Het
Ly6g A G 15: 75,030,482 (GRCm39) K77R probably benign Het
Maea T C 5: 33,523,144 (GRCm39) probably null Het
Marco A T 1: 120,404,474 (GRCm39) probably benign Het
Mcmbp G T 7: 128,317,655 (GRCm39) probably benign Het
Mtcl3 A T 10: 29,023,736 (GRCm39) N361I probably damaging Het
Mtr T A 13: 12,208,619 (GRCm39) R1017W probably damaging Het
Myo15a T A 11: 60,386,308 (GRCm39) I1811N probably damaging Het
Nbeal2 G A 9: 110,462,740 (GRCm39) probably benign Het
Nlrp10 A G 7: 108,524,595 (GRCm39) V295A probably damaging Het
Or10ak7 T C 4: 118,791,707 (GRCm39) T111A probably benign Het
Or51ac3 A G 7: 103,213,658 (GRCm39) V276A probably benign Het
Or5e1 A T 7: 108,354,719 (GRCm39) I219F probably damaging Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Peg12 C A 7: 62,113,324 (GRCm39) G258* probably null Het
Pigc A G 1: 161,798,822 (GRCm39) Y268C probably benign Het
Pnisr G T 4: 21,874,912 (GRCm39) probably null Het
Poteg T C 8: 27,937,871 (GRCm39) F5S probably benign Het
Prss40 T A 1: 34,595,178 (GRCm39) I101F probably benign Het
Ptges3l T A 11: 101,312,731 (GRCm39) D113V possibly damaging Het
Raver2 T C 4: 100,993,349 (GRCm39) S510P possibly damaging Het
Rgr A T 14: 36,766,641 (GRCm39) C94* probably null Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Sesn3 T A 9: 14,227,520 (GRCm39) H168Q possibly damaging Het
Sox30 C A 11: 45,908,098 (GRCm39) P755Q probably damaging Het
Stac3 T C 10: 127,340,754 (GRCm39) F173S probably damaging Het
Synj2 C A 17: 6,077,599 (GRCm39) probably benign Het
Tars3 A T 7: 65,297,244 (GRCm39) I120L probably benign Het
Tas2r124 A G 6: 132,732,019 (GRCm39) I109M probably damaging Het
Tm4sf19 A T 16: 32,226,781 (GRCm39) H190L probably damaging Het
Tmem143 T G 7: 45,556,532 (GRCm39) V179G probably damaging Het
Ubr4 T C 4: 139,195,339 (GRCm39) F1187S probably damaging Het
Ubtfl1 A G 9: 18,321,209 (GRCm39) R246G possibly damaging Het
Zdhhc5 A G 2: 84,532,733 (GRCm39) F57S probably damaging Het
Zfp40 A T 17: 23,394,232 (GRCm39) M717K probably benign Het
Other mutations in Hfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Hfm1 APN 5 107,049,996 (GRCm39) missense possibly damaging 0.70
IGL01295:Hfm1 APN 5 107,065,472 (GRCm39) missense possibly damaging 0.46
IGL01725:Hfm1 APN 5 107,065,245 (GRCm39) missense probably benign 0.00
IGL01758:Hfm1 APN 5 107,052,659 (GRCm39) missense probably damaging 0.99
IGL01911:Hfm1 APN 5 107,059,410 (GRCm39) missense possibly damaging 0.92
IGL02337:Hfm1 APN 5 107,052,133 (GRCm39) missense possibly damaging 0.81
IGL02472:Hfm1 APN 5 107,021,794 (GRCm39) splice site probably benign
IGL02496:Hfm1 APN 5 107,049,627 (GRCm39) missense probably benign 0.00
IGL02545:Hfm1 APN 5 107,043,153 (GRCm39) missense probably damaging 1.00
IGL02584:Hfm1 APN 5 107,026,528 (GRCm39) splice site probably null
IGL02728:Hfm1 APN 5 107,026,689 (GRCm39) missense probably benign 0.13
IGL02881:Hfm1 APN 5 107,022,118 (GRCm39) missense probably damaging 1.00
IGL03108:Hfm1 APN 5 107,043,800 (GRCm39) unclassified probably benign
IGL03351:Hfm1 APN 5 107,059,441 (GRCm39) nonsense probably null
IGL03353:Hfm1 APN 5 107,004,795 (GRCm39) missense probably damaging 0.99
R0024:Hfm1 UTSW 5 107,004,790 (GRCm39) missense probably benign 0.41
R0024:Hfm1 UTSW 5 107,004,790 (GRCm39) missense probably benign 0.41
R0094:Hfm1 UTSW 5 107,065,344 (GRCm39) missense probably benign
R0633:Hfm1 UTSW 5 107,065,467 (GRCm39) missense possibly damaging 0.56
R0644:Hfm1 UTSW 5 107,046,122 (GRCm39) critical splice donor site probably null
R1078:Hfm1 UTSW 5 107,026,696 (GRCm39) missense probably damaging 1.00
R1120:Hfm1 UTSW 5 107,052,084 (GRCm39) splice site probably benign
R1166:Hfm1 UTSW 5 107,059,277 (GRCm39) missense probably benign 0.00
R1242:Hfm1 UTSW 5 107,022,767 (GRCm39) missense probably damaging 0.99
R1414:Hfm1 UTSW 5 107,020,219 (GRCm39) missense probably benign 0.01
R1529:Hfm1 UTSW 5 107,000,989 (GRCm39) missense probably benign 0.00
R1622:Hfm1 UTSW 5 107,041,389 (GRCm39) missense possibly damaging 0.58
R1710:Hfm1 UTSW 5 107,043,869 (GRCm39) missense probably damaging 0.96
R1710:Hfm1 UTSW 5 107,028,380 (GRCm39) missense probably damaging 1.00
R1757:Hfm1 UTSW 5 107,028,226 (GRCm39) splice site probably null
R1856:Hfm1 UTSW 5 106,995,542 (GRCm39) missense probably benign 0.00
R1984:Hfm1 UTSW 5 107,046,442 (GRCm39) missense probably damaging 0.98
R1985:Hfm1 UTSW 5 107,046,442 (GRCm39) missense probably damaging 0.98
R2040:Hfm1 UTSW 5 107,049,684 (GRCm39) missense probably damaging 1.00
R2122:Hfm1 UTSW 5 107,044,121 (GRCm39) missense probably damaging 1.00
R2426:Hfm1 UTSW 5 106,995,519 (GRCm39) splice site probably null
R2474:Hfm1 UTSW 5 107,020,282 (GRCm39) missense possibly damaging 0.81
R2926:Hfm1 UTSW 5 107,022,148 (GRCm39) nonsense probably null
R2944:Hfm1 UTSW 5 107,020,196 (GRCm39) missense probably damaging 1.00
R3705:Hfm1 UTSW 5 107,040,705 (GRCm39) unclassified probably benign
R4256:Hfm1 UTSW 5 107,052,663 (GRCm39) missense possibly damaging 0.83
R4455:Hfm1 UTSW 5 107,034,374 (GRCm39) splice site probably null
R4538:Hfm1 UTSW 5 107,022,756 (GRCm39) missense possibly damaging 0.47
R4540:Hfm1 UTSW 5 107,022,087 (GRCm39) nonsense probably null
R4591:Hfm1 UTSW 5 106,995,533 (GRCm39) missense probably benign 0.08
R4745:Hfm1 UTSW 5 107,049,709 (GRCm39) missense possibly damaging 0.87
R4747:Hfm1 UTSW 5 107,065,389 (GRCm39) missense probably benign
R4765:Hfm1 UTSW 5 106,990,405 (GRCm39) missense probably benign 0.21
R4821:Hfm1 UTSW 5 107,002,606 (GRCm39) critical splice donor site probably null
R4842:Hfm1 UTSW 5 107,040,617 (GRCm39) missense probably damaging 1.00
R4944:Hfm1 UTSW 5 107,022,079 (GRCm39) missense possibly damaging 0.46
R5093:Hfm1 UTSW 5 107,049,597 (GRCm39) missense probably damaging 1.00
R5399:Hfm1 UTSW 5 107,065,428 (GRCm39) missense possibly damaging 0.91
R5414:Hfm1 UTSW 5 107,049,942 (GRCm39) missense probably damaging 1.00
R5436:Hfm1 UTSW 5 107,040,638 (GRCm39) missense possibly damaging 0.61
R5459:Hfm1 UTSW 5 107,052,629 (GRCm39) missense probably damaging 1.00
R5485:Hfm1 UTSW 5 106,995,528 (GRCm39) critical splice donor site probably null
R5585:Hfm1 UTSW 5 107,059,305 (GRCm39) missense probably benign 0.05
R5631:Hfm1 UTSW 5 107,052,629 (GRCm39) missense probably damaging 1.00
R5705:Hfm1 UTSW 5 107,059,319 (GRCm39) missense probably benign 0.21
R5804:Hfm1 UTSW 5 107,026,455 (GRCm39) splice site probably null
R5959:Hfm1 UTSW 5 107,022,783 (GRCm39) missense probably damaging 1.00
R6046:Hfm1 UTSW 5 107,046,509 (GRCm39) splice site probably null
R6191:Hfm1 UTSW 5 107,034,419 (GRCm39) missense possibly damaging 0.95
R6345:Hfm1 UTSW 5 106,989,504 (GRCm39) missense probably benign
R6580:Hfm1 UTSW 5 106,995,575 (GRCm39) missense probably benign 0.00
R6651:Hfm1 UTSW 5 106,995,553 (GRCm39) missense probably benign 0.00
R6761:Hfm1 UTSW 5 107,043,145 (GRCm39) missense probably damaging 1.00
R6835:Hfm1 UTSW 5 107,026,681 (GRCm39) nonsense probably null
R6891:Hfm1 UTSW 5 107,065,240 (GRCm39) missense possibly damaging 0.49
R6924:Hfm1 UTSW 5 106,998,276 (GRCm39) splice site probably null
R6980:Hfm1 UTSW 5 107,028,343 (GRCm39) missense probably benign 0.31
R7054:Hfm1 UTSW 5 107,043,909 (GRCm39) missense probably benign 0.01
R7058:Hfm1 UTSW 5 107,059,306 (GRCm39) missense probably benign 0.04
R7189:Hfm1 UTSW 5 107,049,569 (GRCm39) critical splice donor site probably null
R7250:Hfm1 UTSW 5 107,052,197 (GRCm39) missense probably benign 0.00
R7376:Hfm1 UTSW 5 107,043,084 (GRCm39) missense possibly damaging 0.95
R7577:Hfm1 UTSW 5 107,043,909 (GRCm39) missense probably benign 0.01
R7636:Hfm1 UTSW 5 107,065,332 (GRCm39) missense probably benign 0.02
R7639:Hfm1 UTSW 5 107,046,341 (GRCm39) missense possibly damaging 0.46
R7639:Hfm1 UTSW 5 107,037,791 (GRCm39) missense probably benign 0.03
R7763:Hfm1 UTSW 5 107,029,727 (GRCm39) missense probably damaging 1.00
R7828:Hfm1 UTSW 5 107,029,657 (GRCm39) critical splice donor site probably null
R7905:Hfm1 UTSW 5 107,046,419 (GRCm39) missense probably damaging 1.00
R8160:Hfm1 UTSW 5 107,043,899 (GRCm39) missense probably null 0.00
R8477:Hfm1 UTSW 5 107,029,684 (GRCm39) missense probably benign 0.01
R8739:Hfm1 UTSW 5 107,046,371 (GRCm39) missense probably damaging 0.96
R8968:Hfm1 UTSW 5 107,065,439 (GRCm39) missense probably benign 0.00
R9072:Hfm1 UTSW 5 107,046,146 (GRCm39) missense probably benign 0.04
R9073:Hfm1 UTSW 5 107,046,146 (GRCm39) missense probably benign 0.04
R9152:Hfm1 UTSW 5 106,989,611 (GRCm39) missense probably benign 0.01
R9234:Hfm1 UTSW 5 107,041,334 (GRCm39) missense probably benign
R9244:Hfm1 UTSW 5 107,022,766 (GRCm39) missense probably damaging 0.96
R9576:Hfm1 UTSW 5 107,021,938 (GRCm39) missense probably benign 0.00
R9649:Hfm1 UTSW 5 107,066,329 (GRCm39) missense possibly damaging 0.82
R9743:Hfm1 UTSW 5 107,022,125 (GRCm39) missense possibly damaging 0.55
R9782:Hfm1 UTSW 5 107,021,896 (GRCm39) missense probably benign 0.38
R9789:Hfm1 UTSW 5 107,065,346 (GRCm39) missense probably benign 0.00
Z1177:Hfm1 UTSW 5 107,019,686 (GRCm39) 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