Incidental Mutation 'R5093:Hfm1'
ID 387917
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 042682-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5093 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 106988058-107074187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107049597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 455 (S455T)
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: S455T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: S455T

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: S455T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: S455T

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 noncoding transcript
Transcript: ENSMUST00000137795
Predicted Effect probably benign
Transcript: ENSMUST00000148686
Predicted Effect probably benign
Transcript: ENSMUST00000200249
SMART Domains Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410

DomainStartEndE-ValueType
Pfam:ResIII 260 410 9.9e-7 PFAM
Pfam:DEAD 281 410 1.5e-19 PFAM
Meta Mutation Damage Score 0.5176 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (90/91)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,610,573 (GRCm39) probably benign Het
Abca9 A T 11: 110,032,358 (GRCm39) L753Q probably damaging Het
Acvrl1 A G 15: 101,032,628 (GRCm39) probably null Het
Adgrv1 A T 13: 81,740,704 (GRCm39) N141K probably damaging Het
Aftph C T 11: 20,659,619 (GRCm39) probably null Het
Aifm1 C T X: 47,571,637 (GRCm39) G371S probably benign Het
Aldh3b2 A G 19: 4,029,433 (GRCm39) M269V probably benign Het
Ankrd44 T C 1: 54,802,877 (GRCm39) Y207C probably damaging Het
Arhgap15 G T 2: 44,212,767 (GRCm39) M412I probably damaging Het
Auts2 A C 5: 131,468,296 (GRCm39) L783R probably damaging Het
Baiap2l1 A T 5: 144,215,363 (GRCm39) Y381N probably damaging Het
Baiap3 T C 17: 25,469,243 (GRCm39) D180G probably damaging Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Catsperg2 T C 7: 29,416,423 (GRCm39) S330G probably benign Het
Ccdc73 A T 2: 104,848,111 (GRCm39) probably benign Het
Cdc5l A T 17: 45,703,967 (GRCm39) F752L possibly damaging Het
Celsr2 G T 3: 108,320,689 (GRCm39) H708N possibly damaging Het
Cep170 T A 1: 176,596,896 (GRCm39) K487M possibly damaging Het
Cerkl A T 2: 79,163,867 (GRCm39) N66K probably damaging Het
Cilk1 G A 9: 78,047,303 (GRCm39) V68I probably benign Het
Clec11a C T 7: 43,954,150 (GRCm39) A268T probably damaging Het
Ctnna2 C A 6: 77,091,912 (GRCm39) probably null Het
Diaph3 C A 14: 87,222,236 (GRCm39) R416L probably damaging Het
Dnmbp T A 19: 43,838,315 (GRCm39) N1170I probably damaging Het
Erbb2 G T 11: 98,318,279 (GRCm39) C505F probably damaging Het
Ercc6 T A 14: 32,289,479 (GRCm39) F904L probably damaging Het
Exo5 C T 4: 120,779,514 (GRCm39) G117D probably damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Fbxl5 A G 5: 43,930,896 (GRCm39) Y64H probably damaging Het
Gabra4 T A 5: 71,798,207 (GRCm39) M207L probably damaging Het
Galnt15 T C 14: 31,771,786 (GRCm39) L277P probably damaging Het
Gclm T C 3: 122,049,261 (GRCm39) probably null Het
Gm5493 T A 17: 22,966,201 (GRCm39) C29S possibly damaging Het
Grik3 A G 4: 125,564,382 (GRCm39) T455A probably benign Het
Grm3 A G 5: 9,639,766 (GRCm39) V93A probably benign Het
Hdgfl2 C T 17: 56,406,217 (GRCm39) A535V possibly damaging Het
Hmcn1 T A 1: 150,613,007 (GRCm39) D1424V probably benign Het
Hsd3b6 C T 3: 98,715,120 (GRCm39) V91I probably benign Het
Igdcc4 G A 9: 65,030,039 (GRCm39) S363N possibly damaging Het
Intu T C 3: 40,647,347 (GRCm39) V740A probably benign Het
Itga2 C T 13: 114,992,717 (GRCm39) V838I probably benign Het
Kif9 A G 9: 110,318,965 (GRCm39) E143G probably damaging Het
Kmt2c T A 5: 25,614,205 (GRCm39) I172F probably benign Het
Kmt2d G A 15: 98,754,043 (GRCm39) R21W probably damaging Het
Mdh1b A T 1: 63,750,620 (GRCm39) D449E probably benign Het
Meis1 T C 11: 18,831,785 (GRCm39) I418V probably benign Het
Nags T A 11: 102,037,395 (GRCm39) M162K probably damaging Het
Nufip1 A G 14: 76,348,413 (GRCm39) D14G probably benign Het
Or2l13 T A 16: 19,306,227 (GRCm39) I213N probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or7g28 T G 9: 19,272,274 (GRCm39) I126L probably damaging Het
Osmr A C 15: 6,850,560 (GRCm39) V681G probably damaging Het
Paxip1 G T 5: 27,971,282 (GRCm39) Q356K unknown Het
Pcdhac1 T A 18: 37,223,595 (GRCm39) F136Y probably damaging Het
Pla2g6 A G 15: 79,171,328 (GRCm39) V699A probably benign Het
Plcb3 A T 19: 6,943,578 (GRCm39) V107E probably damaging Het
Plch1 T A 3: 63,681,136 (GRCm39) I164F probably damaging Het
Plpp3 A T 4: 105,052,077 (GRCm39) I73F probably damaging Het
Plscr5 G A 9: 92,080,574 (GRCm39) R20Q probably benign Het
Prdm10 G A 9: 31,252,779 (GRCm39) R504Q probably damaging Het
Prss58 T C 6: 40,874,751 (GRCm39) Y30C probably damaging Het
Psg19 T A 7: 18,530,894 (GRCm39) T87S probably benign Het
Ptpn22 T G 3: 103,789,418 (GRCm39) M294R probably benign Het
Rai1 T A 11: 60,079,482 (GRCm39) M1182K probably benign Het
Sez6 T A 11: 77,867,388 (GRCm39) V795D possibly damaging Het
Shcbp1 A G 8: 4,789,214 (GRCm39) V535A possibly damaging Het
Skint9 A G 4: 112,246,447 (GRCm39) Y222H probably benign Het
Slc13a3 T A 2: 165,253,816 (GRCm39) I446F probably damaging Het
Slc2a3 C T 6: 122,714,196 (GRCm39) R57H probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Spata31d1b A T 13: 59,863,838 (GRCm39) N329Y possibly damaging Het
Strbp C T 2: 37,517,499 (GRCm39) R192K probably damaging Het
Tctn3 A T 19: 40,600,548 (GRCm39) L14Q probably damaging Het
Tenm2 T A 11: 36,834,989 (GRCm39) D2V probably damaging Het
Tln2 T G 9: 67,241,596 (GRCm39) K1003T probably benign Het
Tmem63b T C 17: 45,971,800 (GRCm39) E805G probably damaging Het
Trhr A T 15: 44,060,980 (GRCm39) N167Y probably damaging Het
Trpc2 A G 7: 101,744,390 (GRCm39) R721G probably benign Het
Ttn C A 2: 76,701,267 (GRCm39) probably benign Het
Wdr91 A G 6: 34,869,288 (GRCm39) I412T probably damaging Het
Zcchc4 T A 5: 52,953,952 (GRCm39) S211T 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
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
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'- TGTCAATGAGATCTGGCACTAATAA -3'
(R):5'- TCACTTTCAGAGATAAACACAGATGAT -3'

Sequencing Primer
(F):5'- GTGGGTATAAGATCCTCACCCTAG -3'
(R):5'- GTCCCTTAAAAATGTAAAATGCT -3'
Posted On 2016-06-06