Incidental Mutation 'R9234:Hfm1'
ID 700967
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R9234 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 106988058-107074187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107041334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 683 (N683S)
Ref Sequence ENSEMBL: ENSMUSP00000108310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148495]
AlphaFold D3Z4R1
Predicted Effect probably benign
Transcript: ENSMUST00000112690
AA Change: N683S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: N683S

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: ENSMUST00000117588
AA Change: N683S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: N683S

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 probably benign
Transcript: ENSMUST00000155171
SMART Domains Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
Sec63 33 304 3.04e-42 SMART
Blast:Sec63 344 402 7e-19 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A G 2: 155,845,798 (GRCm39) Y20H probably benign Het
Arid5b A G 10: 67,964,628 (GRCm39) F348L possibly damaging Het
Bms1 C A 6: 118,375,044 (GRCm39) A777S probably damaging Het
C2cd3 A G 7: 100,049,012 (GRCm39) Y61C Het
Caprin2 A T 6: 148,744,337 (GRCm39) Y1029* probably null Het
Casp1 A T 9: 5,303,128 (GRCm39) D194V probably benign Het
Crkl A G 16: 17,286,822 (GRCm39) E126G probably damaging Het
Crp A T 1: 172,526,413 (GRCm39) D166V probably damaging Het
Dnah10 A C 5: 124,818,989 (GRCm39) D425A possibly damaging Het
Dnah11 A T 12: 117,951,095 (GRCm39) L3071Q probably damaging Het
Dnah9 T A 11: 65,924,751 (GRCm39) I2168F possibly damaging Het
Elp3 T A 14: 65,788,920 (GRCm39) I388F probably damaging Het
Espn C A 4: 152,217,380 (GRCm39) probably null Het
Fbrsl1 G T 5: 110,511,250 (GRCm39) F504L probably benign Het
Fzd9 A C 5: 135,279,540 (GRCm39) M115R probably damaging Het
Git2 A T 5: 114,899,682 (GRCm39) Y224N possibly damaging Het
Gm9195 A T 14: 72,695,786 (GRCm39) Y1415* probably null Het
Gnpat T A 8: 125,610,179 (GRCm39) L454Q probably damaging Het
Grm5 C T 7: 87,723,440 (GRCm39) P577S probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Leng8 C A 7: 4,145,247 (GRCm39) P216T probably damaging Het
Letm2 C A 8: 26,084,102 (GRCm39) R43L probably benign Het
Lims2 A T 18: 32,090,943 (GRCm39) Y309F probably benign Het
Llgl1 T C 11: 60,600,956 (GRCm39) probably null Het
Ltn1 A T 16: 87,194,089 (GRCm39) D1417E probably damaging Het
Map4k4 T A 1: 40,029,261 (GRCm39) N345K unknown Het
Mapre2 T C 18: 23,937,236 (GRCm39) I26T probably benign Het
Nfe2 A G 15: 103,159,636 (GRCm39) probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Ntrk1 A G 3: 87,695,622 (GRCm39) probably null Het
Or51b6b T A 7: 103,309,950 (GRCm39) Y169F possibly damaging Het
Or52e18 A G 7: 104,609,651 (GRCm39) F96S probably damaging Het
Or5h19 T C 16: 58,856,789 (GRCm39) N104D probably benign Het
Otud7b G T 3: 96,047,771 (GRCm39) Q43H probably damaging Het
Pcdhb5 T C 18: 37,453,695 (GRCm39) V25A probably benign Het
Pcolce2 A G 9: 95,560,439 (GRCm39) T163A probably benign Het
Pdgfra T A 5: 75,324,262 (GRCm39) V39E possibly damaging Het
Pdgfrb T A 18: 61,194,300 (GRCm39) W26R probably null Het
Pigp T A 16: 94,165,522 (GRCm39) *206Y probably null Het
Pip5kl1 G T 2: 32,468,211 (GRCm39) G126C probably benign Het
Plekhg2 G T 7: 28,064,215 (GRCm39) T442K probably benign Het
Prmt5 A T 14: 54,748,674 (GRCm39) S375T possibly damaging Het
Rnf213 T A 11: 119,340,943 (GRCm39) M3529K Het
Ror2 C A 13: 53,265,374 (GRCm39) D573Y probably damaging Het
Shank1 A G 7: 43,962,579 (GRCm39) T98A unknown Het
Shcbp1 A T 8: 4,798,800 (GRCm39) I373K possibly damaging Het
Slc25a42 A G 8: 70,642,736 (GRCm39) S64P probably damaging Het
Smco3 T A 6: 136,808,410 (GRCm39) I155F probably damaging Het
Snx4 C A 16: 33,087,161 (GRCm39) S102* probably null Het
Snx4 T A 16: 33,108,069 (GRCm39) S288T probably benign Het
Socs4 A G 14: 47,527,716 (GRCm39) N217S probably benign Het
Tatdn2 G A 6: 113,679,683 (GRCm39) probably null Het
Tmprss2 A G 16: 97,379,821 (GRCm39) Y160H probably damaging Het
Trim37 T C 11: 87,036,393 (GRCm39) I158T possibly damaging Het
Trip11 C T 12: 101,811,990 (GRCm39) probably null Het
Ubr3 G A 2: 69,727,990 (GRCm39) A118T probably benign Het
Ubxn7 T C 16: 32,178,895 (GRCm39) probably null Het
Unc5cl C T 17: 48,770,658 (GRCm39) H369Y probably damaging Het
Unc5d A T 8: 29,250,877 (GRCm39) N263K probably damaging Het
Vmn2r59 A G 7: 41,661,907 (GRCm39) I636T possibly damaging Het
Vps13d G T 4: 144,875,792 (GRCm39) Q1578K Het
Wnk2 T C 13: 49,224,274 (GRCm39) D1171G probably damaging Het
Zfpm2 A G 15: 40,966,470 (GRCm39) Y985C probably damaging Het
Zpbp2 A T 11: 98,443,398 (GRCm39) N77I probably damaging 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
R1450:Hfm1 UTSW 5 107,066,324 (GRCm39) missense probably damaging 0.99
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
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'- GTGACAGTAGTGTAGATTCTATCCTAC -3'
(R):5'- TGAGATCCTCCTTTCAGAATGAC -3'

Sequencing Primer
(F):5'- CCATTGTGTGTTAAAAATCACCAC -3'
(R):5'- AGAATGACTTTCTTTAGCTTATCAGC -3'
Posted On 2022-03-25