Incidental Mutation 'R4747:Hfm1'
ID 357177
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 042029-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4747 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 106840192-106926321 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106917523 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 97 (H97Y)
Ref Sequence ENSEMBL: ENSMUSP00000142727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148686] [ENSMUST00000200249]
AlphaFold D3Z4R1
Predicted Effect probably benign
Transcript: ENSMUST00000112690
AA Change: H97Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: H97Y

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: H97Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: H97Y

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 benign
Transcript: ENSMUST00000200249
AA Change: H97Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410
AA Change: H97Y

DomainStartEndE-ValueType
Pfam:ResIII 260 410 9.9e-7 PFAM
Pfam:DEAD 281 410 1.5e-19 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik A T 6: 149,326,894 (GRCm38) E479D probably damaging Het
4933402D24Rik A G 1: 63,756,409 (GRCm38) probably benign Het
Acadvl G T 11: 70,012,508 (GRCm38) N340K probably damaging Het
Adgrl4 T A 3: 151,507,440 (GRCm38) N372K probably benign Het
Adh1 G A 3: 138,288,881 (GRCm38) G321S probably damaging Het
Ankrd26 G T 6: 118,527,757 (GRCm38) N730K probably benign Het
Aoc2 A T 11: 101,328,820 (GRCm38) probably null Het
Arhgef4 A G 1: 34,723,274 (GRCm38) E537G unknown Het
Ccdc7b T C 8: 129,178,235 (GRCm38) V118A probably benign Het
Ccdc88b T A 19: 6,856,141 (GRCm38) R219W probably damaging Het
Ccdc97 T C 7: 25,718,923 (GRCm38) probably null Het
Cnot1 T C 8: 95,774,682 (GRCm38) N86S probably benign Het
Comp T C 8: 70,376,702 (GRCm38) C310R probably damaging Het
Crtc2 A T 3: 90,260,211 (GRCm38) N281Y probably damaging Het
Cryl1 T C 14: 57,313,102 (GRCm38) K102E probably damaging Het
Csf2ra G A 19: 61,226,053 (GRCm38) R225* probably null Het
Dao A T 5: 114,012,632 (GRCm38) D99V probably benign Het
Dgkd A G 1: 87,934,167 (GRCm38) T815A probably damaging Het
Dhrs7 T C 12: 72,653,118 (GRCm38) T247A probably benign Het
Dnah7c G C 1: 46,533,168 (GRCm38) D934H probably damaging Het
Dnajc15 T C 14: 77,844,456 (GRCm38) Y82C probably benign Het
Dnajc4 T C 19: 6,989,504 (GRCm38) Q152R probably damaging Het
Dsc1 T C 18: 20,094,558 (GRCm38) K541R probably damaging Het
Elp4 G A 2: 105,794,607 (GRCm38) R196C probably damaging Het
Epha8 GC G 4: 136,938,695 (GRCm38) probably null Het
Ercc6 T C 14: 32,569,907 (GRCm38) V1076A probably benign Het
Fgd4 T C 16: 16,423,929 (GRCm38) Y677C probably damaging Het
Fndc3b C A 3: 27,428,965 (GRCm38) C1028F probably damaging Het
Folr1 T A 7: 101,863,977 (GRCm38) D37V probably damaging Het
Gabrr3 T A 16: 59,447,914 (GRCm38) probably null Het
Garem1 C A 18: 21,129,943 (GRCm38) V605L probably benign Het
Gbp7 A T 3: 142,543,017 (GRCm38) D347V probably damaging Het
Gdpd4 A G 7: 97,961,633 (GRCm38) T87A possibly damaging Het
Gm12258 C A 11: 58,859,596 (GRCm38) H532Q probably damaging Het
Gm4788 A T 1: 139,698,184 (GRCm38) C792S probably damaging Het
Herc2 A G 7: 56,106,393 (GRCm38) E727G possibly damaging Het
Idua G T 5: 108,681,036 (GRCm38) R335L probably damaging Het
Ifi207 A G 1: 173,729,067 (GRCm38) S702P probably benign Het
Kif16b A T 2: 142,857,426 (GRCm38) V78D probably damaging Het
Klra17 T A 6: 129,872,269 (GRCm38) D114V probably damaging Het
Krt76 A G 15: 101,885,745 (GRCm38) S481P probably damaging Het
Lhfpl5 A G 17: 28,579,976 (GRCm38) D153G probably damaging Het
Med21 T A 6: 146,649,202 (GRCm38) D70E possibly damaging Het
Mroh3 A T 1: 136,185,499 (GRCm38) M739K probably benign Het
Myo1a A G 10: 127,714,438 (GRCm38) E549G probably damaging Het
Narfl A T 17: 25,780,353 (GRCm38) Y247F probably benign Het
Neu1 A G 17: 34,934,383 (GRCm38) D294G possibly damaging Het
Nmur2 A T 11: 56,040,279 (GRCm38) I202K probably benign Het
Nop2 T A 6: 125,137,094 (GRCm38) D174E probably benign Het
Ogfr A T 2: 180,594,423 (GRCm38) H267L probably damaging Het
Olfr1031 A G 2: 85,991,927 (GRCm38) T37A probably damaging Het
Olfr796 G T 10: 129,608,184 (GRCm38) A99E possibly damaging Het
P2ry13 T A 3: 59,209,887 (GRCm38) I157F probably benign Het
Pank4 T C 4: 154,979,532 (GRCm38) V660A probably damaging Het
Pax6 C A 2: 105,696,502 (GRCm38) P251Q probably benign Het
Pcdhb13 T C 18: 37,444,815 (GRCm38) Y749H probably damaging Het
Pcdhga3 C A 18: 37,676,746 (GRCm38) Q751K probably benign Het
Pcnt C T 10: 76,436,465 (GRCm38) E186K possibly damaging Het
Pecam1 A T 11: 106,684,246 (GRCm38) F613I probably benign Het
Pias2 T C 18: 77,152,792 (GRCm38) *615Q probably null Het
Plb1 A T 5: 32,349,659 (GRCm38) M1193L probably benign Het
Pomgnt1 T C 4: 116,156,199 (GRCm38) L506P probably damaging Het
Qrfp T C 2: 31,808,840 (GRCm38) T27A probably damaging Het
Relb C A 7: 19,627,922 (GRCm38) probably null Het
Rgl1 G T 1: 152,524,699 (GRCm38) C685* probably null Het
Ric8b A G 10: 84,917,764 (GRCm38) Y8C probably benign Het
Rrp36 G A 17: 46,669,967 (GRCm38) A161V possibly damaging Het
Samd9l G A 6: 3,375,504 (GRCm38) Q586* probably null Het
Sbf1 C T 15: 89,302,713 (GRCm38) D821N probably damaging Het
Sept8 G C 11: 53,536,718 (GRCm38) A255P probably damaging Het
Skp2 T C 15: 9,113,839 (GRCm38) T329A possibly damaging Het
Slc15a2 C T 16: 36,772,136 (GRCm38) V220M probably damaging Het
Slc25a11 T A 11: 70,645,956 (GRCm38) T63S possibly damaging Het
Sowahc T C 10: 59,223,161 (GRCm38) I373T probably benign Het
Sptbn2 T A 19: 4,748,154 (GRCm38) M1969K probably benign Het
St14 G A 9: 31,103,757 (GRCm38) T315M possibly damaging Het
Tagap G A 17: 7,932,198 (GRCm38) R284H probably benign Het
Tdpoz3 T A 3: 93,826,169 (GRCm38) S50R possibly damaging Het
Thoc5 A G 11: 4,904,187 (GRCm38) D182G probably damaging Het
Tinag A G 9: 76,996,956 (GRCm38) V395A probably benign Het
Tmc8 A G 11: 117,792,724 (GRCm38) S702G probably benign Het
Tmem202 A G 9: 59,519,194 (GRCm38) S230P possibly damaging Het
Tmem203 T C 2: 25,255,752 (GRCm38) V28A probably benign Het
Traf3ip1 A T 1: 91,527,757 (GRCm38) S647C probably damaging Het
Tram1 A T 1: 13,589,646 (GRCm38) I26N probably damaging Het
Ttc6 A T 12: 57,674,692 (GRCm38) D989V possibly damaging Het
Ttll6 A G 11: 96,145,546 (GRCm38) T334A possibly damaging Het
Ttn A T 2: 76,919,742 (GRCm38) D3654E probably damaging Het
Ufd1 T G 16: 18,821,082 (GRCm38) V112G probably damaging Het
Usp9y A T Y: 1,391,284 (GRCm38) Y629N possibly damaging Het
Vmn2r1 A G 3: 64,081,846 (GRCm38) I69V probably benign Het
Zfp180 A T 7: 24,105,821 (GRCm38) Y555F probably damaging Het
Zfp438 T C 18: 5,214,403 (GRCm38) N185S probably benign Het
Zfp445 C T 9: 122,857,150 (GRCm38) V15I possibly damaging Het
Zfp462 A G 4: 55,013,476 (GRCm38) E1814G probably benign 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
R4745:Hfm1 UTSW 5 106,901,843 (GRCm38) missense possibly damaging 0.87
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'- ATGCTGATGTGCCCTGTCTG -3'
(R):5'- CAGTGCATGGTTCTTGTAATATTCG -3'

Sequencing Primer
(F):5'- GTCTTCTGCCACATCATGTAATTTTG -3'
(R):5'- CACTGTCTGTGTAGTCAGAGAAC -3'
Posted On 2015-11-11