Incidental Mutation 'R4745:Hfm1'
ID 356635
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 042028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4745 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 106840192-106926321 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106901843 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 417 (D417E)
Ref Sequence ENSEMBL: ENSMUSP00000112590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148686] [ENSMUST00000200249]
AlphaFold D3Z4R1
Predicted Effect possibly damaging
Transcript: ENSMUST00000112690
AA Change: D417E

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: D417E

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 possibly damaging
Transcript: ENSMUST00000117588
AA Change: D417E

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: D417E

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 0.1023 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (89/92)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,307,453 (GRCm38) Y619C probably damaging Het
Adck1 A G 12: 88,402,179 (GRCm38) probably null Het
Agap3 A C 5: 24,451,125 (GRCm38) probably null Het
Ankib1 A T 5: 3,732,566 (GRCm38) H354Q probably damaging Het
Ankrd29 T G 18: 12,254,622 (GRCm38) N301T probably benign Het
Arhgef4 A G 1: 34,807,275 (GRCm38) T379A probably damaging Het
Arid1a A G 4: 133,753,106 (GRCm38) V169A probably benign Het
Armc4 G A 18: 7,286,763 (GRCm38) T156M probably benign Het
Bag2 T C 1: 33,748,336 (GRCm38) probably null Het
Bmt2 A C 6: 13,628,687 (GRCm38) Y332* probably null Het
Bpifb1 A T 2: 154,211,581 (GRCm38) K248* probably null Het
Caap1 C A 4: 94,556,514 (GRCm38) probably null Het
Calcr T A 6: 3,692,576 (GRCm38) Y389F probably damaging Het
Capn1 C T 19: 5,993,916 (GRCm38) V562I probably benign Het
Ccr1 T A 9: 123,963,948 (GRCm38) T182S probably benign Het
Ceacam15 T C 7: 16,673,334 (GRCm38) D86G probably benign Het
Cldnd1 C T 16: 58,729,643 (GRCm38) T63I probably benign Het
Col12a1 A T 9: 79,652,086 (GRCm38) probably null Het
Cystm1 A G 18: 36,393,295 (GRCm38) probably benign Het
Ddx55 T A 5: 124,566,965 (GRCm38) Y428* probably null Het
Ensa G A 3: 95,631,434 (GRCm38) G118D probably benign Het
Fam208b G A 13: 3,590,069 (GRCm38) T356I probably benign Het
Folh1 A T 7: 86,723,274 (GRCm38) probably null Het
Foxj2 C A 6: 122,837,989 (GRCm38) P328Q probably damaging Het
Fscn3 A G 6: 28,435,628 (GRCm38) I417V probably damaging Het
Galnt7 T C 8: 57,542,727 (GRCm38) probably benign Het
Gm11563 T A 11: 99,658,420 (GRCm38) *169C probably null Het
Ighv15-2 A G 12: 114,564,610 (GRCm38) S107P probably damaging Het
Itsn2 A G 12: 4,661,944 (GRCm38) D904G probably damaging Het
Kif1b A T 4: 149,237,882 (GRCm38) L860* probably null Het
Krt79 T C 15: 101,930,684 (GRCm38) E450G probably damaging Het
Lama1 T C 17: 67,738,780 (GRCm38) S227P probably damaging Het
Lamp5 C A 2: 136,060,866 (GRCm38) H168Q probably benign Het
Lilra5 A T 7: 4,242,077 (GRCm38) Q240L possibly damaging Het
Lrp1 A T 10: 127,549,944 (GRCm38) C3521S probably benign Het
Mroh1 T A 15: 76,408,530 (GRCm38) probably null Het
Nlrp4g A T 9: 124,349,515 (GRCm38) noncoding transcript Het
Nr2f6 A T 8: 71,378,535 (GRCm38) I70N probably benign Het
Nr4a2 T A 2: 57,110,151 (GRCm38) D311V probably damaging Het
Olfr1490 T A 19: 13,655,386 (GRCm38) M319K probably benign Het
Olfr248 T C 1: 174,391,876 (GRCm38) L269P probably damaging Het
Olfr659 T A 7: 104,671,504 (GRCm38) F267L probably damaging Het
Pcdhb6 C A 18: 37,335,373 (GRCm38) A449D possibly damaging Het
Pcgf6 A G 19: 47,048,106 (GRCm38) probably null Het
Prc1 C A 7: 80,313,163 (GRCm38) H131Q probably benign Het
Ptprq C A 10: 107,524,253 (GRCm38) R2187L probably damaging Het
Rasl2-9 C A 7: 5,125,703 (GRCm38) R76L possibly damaging Het
Rdh16f1 A T 10: 127,790,816 (GRCm38) Y246F probably benign Het
Rit1 T C 3: 88,717,675 (GRCm38) probably benign Het
Sash1 A G 10: 8,729,908 (GRCm38) V906A probably benign Het
Scnn1b T C 7: 121,902,286 (GRCm38) V108A probably benign Het
Sema4f A T 6: 82,918,284 (GRCm38) I356N probably damaging Het
Shc4 A T 2: 125,649,277 (GRCm38) L447Q probably damaging Het
Slc24a1 T C 9: 64,949,476 (GRCm38) M50V unknown Het
Slc28a3 T A 13: 58,574,263 (GRCm38) D269V possibly damaging Het
Slc35e1 A G 8: 72,492,322 (GRCm38) S89P possibly damaging Het
Smpd5 T A 15: 76,294,808 (GRCm38) H125Q probably benign Het
Snapc2 A G 8: 4,254,578 (GRCm38) T31A probably damaging Het
Sox5 G C 6: 143,833,488 (GRCm38) H606D possibly damaging Het
Spag6 A G 2: 18,737,296 (GRCm38) T367A possibly damaging Het
Spag8 T C 4: 43,651,636 (GRCm38) T413A probably damaging Het
Sptlc3 G A 2: 139,547,167 (GRCm38) G156R probably damaging Het
Stx19 A G 16: 62,822,420 (GRCm38) T200A probably benign Het
Tas2r116 A G 6: 132,855,705 (GRCm38) T90A probably benign Het
Tbl3 A G 17: 24,705,330 (GRCm38) probably benign Het
Tekt5 G T 16: 10,395,194 (GRCm38) P76T probably damaging Het
Tjp2 C T 19: 24,096,666 (GRCm38) E1086K possibly damaging Het
Topbp1 T C 9: 103,323,571 (GRCm38) L601P probably damaging Het
Trav16 T A 14: 53,743,477 (GRCm38) M41K possibly damaging Het
Trav6-5 C A 14: 53,491,503 (GRCm38) N72K probably benign Het
Trpm3 C G 19: 22,715,295 (GRCm38) T250S possibly damaging Het
Vps35 A T 8: 85,261,262 (GRCm38) D753E probably benign Het
Vstm2a A T 11: 16,263,061 (GRCm38) N149Y probably damaging Het
Vwa2 G T 19: 56,906,886 (GRCm38) M497I probably benign Het
Zfat C A 15: 68,180,374 (GRCm38) V517L probably benign Het
Zfp169 C A 13: 48,490,232 (GRCm38) R473L possibly damaging Het
Zfp672 T C 11: 58,329,498 (GRCm38) probably benign Het
Zranb1 T C 7: 132,972,714 (GRCm38) V420A probably damaging 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
R1450:Hfm1 UTSW 5 106,918,458 (GRCm38) missense probably damaging 0.99
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
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'- CAACTTCTCTGAGACCAAATTGAC -3'
(R):5'- AGGTAGTAAACACGTTCACTTTCAG -3'

Sequencing Primer
(F):5'- CTGAGACCAAATTGACTAAATATCCC -3'
(R):5'- CGTTCACTTTCAGAGATAAACACAG -3'
Posted On 2015-11-11