Incidental Mutation 'R6046:Hfm1'
ID 506185
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 044214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6046 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 106988058-107074187 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 107046509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148495] [ENSMUST00000148686] [ENSMUST00000200249]
AlphaFold D3Z4R1
Predicted Effect probably null
Transcript: ENSMUST00000112690
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410

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 null
Transcript: ENSMUST00000117588
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410

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: ENSMUST00000148495
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (78/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T C 10: 85,223,947 (GRCm39) V252A unknown Het
Actn4 T C 7: 28,604,044 (GRCm39) I406V probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Ank1 T A 8: 23,606,114 (GRCm39) F1124I probably damaging Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Atp9a C A 2: 168,476,790 (GRCm39) V1000L probably benign Het
Bnip3 A G 7: 138,511,033 (GRCm39) probably benign Het
Btnl6 T A 17: 34,727,371 (GRCm39) R386S probably damaging Het
Calcrl A G 2: 84,205,658 (GRCm39) V11A probably benign Het
Cc2d1a G T 8: 84,863,571 (GRCm39) A597D possibly damaging Het
Celsr3 A G 9: 108,714,350 (GRCm39) T1960A probably benign Het
Cfb T A 17: 35,081,078 (GRCm39) probably null Het
Chd8 A G 14: 52,458,528 (GRCm39) I860T possibly damaging Het
Col28a1 A G 6: 8,168,102 (GRCm39) probably null Het
Crhr2 T A 6: 55,068,277 (GRCm39) T428S probably damaging Het
Crybg2 A T 4: 133,819,388 (GRCm39) I1753F probably damaging Het
Ctsq A T 13: 61,186,955 (GRCm39) V46E probably benign Het
Cxcr1 T C 1: 74,231,440 (GRCm39) E194G probably damaging Het
Dop1a A T 9: 86,397,396 (GRCm39) H900L probably damaging Het
Dpyd T A 3: 119,225,224 (GRCm39) M999K probably benign Het
Gbp3 A C 3: 142,273,560 (GRCm39) D369A possibly damaging Het
Glmp A G 3: 88,232,495 (GRCm39) E36G probably damaging Het
Gm10113 T C 13: 46,330,919 (GRCm39) noncoding transcript Het
Gm6486 T A 5: 3,120,846 (GRCm39) noncoding transcript Het
Gm973 T G 1: 59,671,509 (GRCm39) L891R unknown Het
Heatr3 C T 8: 88,866,582 (GRCm39) T8M probably damaging Het
Herc1 A G 9: 66,352,831 (GRCm39) M2106V probably damaging Het
Hspa14 A G 2: 3,490,801 (GRCm39) V462A possibly damaging Het
Hspa5 C A 2: 34,665,761 (GRCm39) T535K possibly damaging Het
Ift140 A G 17: 25,274,563 (GRCm39) D745G probably benign Het
Ift27 A T 15: 78,057,981 (GRCm39) C8S possibly damaging Het
Irak1bp1 G A 9: 82,728,616 (GRCm39) W182* probably null Het
Itga3 A G 11: 94,953,541 (GRCm39) I236T probably benign Het
Kctd15 T A 7: 34,349,547 (GRCm39) N26Y possibly damaging Het
Kdm1b T C 13: 47,232,729 (GRCm39) V733A possibly damaging Het
Lhx8 A T 3: 154,027,340 (GRCm39) L234H probably damaging Het
Lrp2 T A 2: 69,337,098 (GRCm39) T1225S probably damaging Het
Lrrn1 G A 6: 107,545,488 (GRCm39) D429N probably benign Het
Mettl3 A T 14: 52,536,243 (GRCm39) N200K possibly damaging Het
Mixl1 G T 1: 180,524,336 (GRCm39) A81D possibly damaging Het
Mroh2b T C 15: 4,980,763 (GRCm39) I1444T probably benign Het
Muc15 T A 2: 110,561,786 (GRCm39) L74* probably null Het
Olfm2 T A 9: 20,579,824 (GRCm39) Y317F probably damaging Het
Or52a33 C T 7: 103,288,886 (GRCm39) V154M probably benign Het
Or5b114-ps1 G A 19: 13,352,698 (GRCm39) S124N probably benign Het
Or5p54 T A 7: 107,554,001 (GRCm39) I51N probably benign Het
Pclo A T 5: 14,763,302 (GRCm39) Y3925F unknown Het
Pik3c2g A T 6: 139,599,137 (GRCm39) R84S probably damaging Het
Pik3c2g A G 6: 139,842,518 (GRCm39) Q449R probably damaging Het
Psg28 T C 7: 18,160,305 (GRCm39) E297G probably damaging Het
Qrich2 A T 11: 116,337,832 (GRCm39) probably benign Het
Rgs9 A G 11: 109,130,386 (GRCm39) I363T probably damaging Het
Rnpepl1 A G 1: 92,844,543 (GRCm39) D345G probably damaging Het
Rtn4 T A 11: 29,658,023 (GRCm39) F726I probably damaging Het
Sart3 A T 5: 113,893,507 (GRCm39) I330N probably damaging Het
Scn5a T C 9: 119,391,440 (GRCm39) D84G probably damaging Het
Sema4a T C 3: 88,348,008 (GRCm39) T438A probably damaging Het
Sfxn1 A C 13: 54,242,961 (GRCm39) Y73S probably benign Het
Slc24a2 A G 4: 86,914,882 (GRCm39) M585T probably damaging Het
Slc26a7 A G 4: 14,505,471 (GRCm39) V656A probably benign Het
Smok2a T G 17: 13,445,021 (GRCm39) D199E probably benign Het
Tbc1d10c T C 19: 4,235,030 (GRCm39) I344V probably benign Het
Tll1 A T 8: 64,506,925 (GRCm39) Y605* probably null Het
Trim75 G A 8: 65,435,535 (GRCm39) P305L probably damaging Het
Unc13c T C 9: 73,838,166 (GRCm39) N895S probably benign Het
Vmn2r25 A T 6: 123,799,876 (GRCm39) I822N probably damaging Het
Wasf3 T G 5: 146,407,166 (GRCm39) D495E unknown Het
Wdhd1 T A 14: 47,510,667 (GRCm39) K119* probably null Het
Wnt2b T A 3: 104,858,339 (GRCm39) D310V probably damaging Het
Zfat G T 15: 68,052,626 (GRCm39) D389E probably damaging Het
Zfp282 G A 6: 47,857,102 (GRCm39) V112M probably damaging Het
Zfp617 A T 8: 72,687,257 (GRCm39) K529I probably damaging Het
Zfp866 A T 8: 70,218,373 (GRCm39) C416S probably damaging Het
Zfp991 G A 4: 147,264,222 (GRCm39) G533D 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
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
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'- AAGAATCCGTACCACAAGTGTG -3'
(R):5'- CCTGAAACACTGATATTGGTAGC -3'

Sequencing Primer
(F):5'- CACAAGTGTGGGCTTCTGATC -3'
(R):5'- CAGACCATGACTTTAAAGTG -3'
Posted On 2018-03-08