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: 0.080) question?
Stock # R4747 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 106988058-107074187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107065389 bp (GRCm39)
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
4933402D24Rik A G 1: 63,795,568 (GRCm39) probably benign Het
Acadvl G T 11: 69,903,334 (GRCm39) N340K probably damaging Het
Adgrl4 T A 3: 151,213,077 (GRCm39) N372K probably benign Het
Adh1 G A 3: 137,994,642 (GRCm39) G321S probably damaging Het
Ankrd26 G T 6: 118,504,718 (GRCm39) N730K probably benign Het
Aoc2 A T 11: 101,219,646 (GRCm39) probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Ccdc7b T C 8: 129,904,716 (GRCm39) V118A probably benign Het
Ccdc88b T A 19: 6,833,509 (GRCm39) R219W probably damaging Het
Ccdc97 T C 7: 25,418,348 (GRCm39) probably null Het
Cfhr4 A T 1: 139,625,922 (GRCm39) C792S probably damaging Het
Ciao3 A T 17: 25,999,327 (GRCm39) Y247F probably benign Het
Cnot1 T C 8: 96,501,310 (GRCm39) N86S probably benign Het
Comp T C 8: 70,829,352 (GRCm39) C310R probably damaging Het
Crtc2 A T 3: 90,167,518 (GRCm39) N281Y probably damaging Het
Cryl1 T C 14: 57,550,559 (GRCm39) K102E probably damaging Het
Csf2ra G A 19: 61,214,491 (GRCm39) R225* probably null Het
Dao A T 5: 114,150,693 (GRCm39) D99V probably benign Het
Dgkd A G 1: 87,861,889 (GRCm39) T815A probably damaging Het
Dhrs7 T C 12: 72,699,892 (GRCm39) T247A probably benign Het
Dnah7c G C 1: 46,572,328 (GRCm39) D934H probably damaging Het
Dnajc15 T C 14: 78,081,896 (GRCm39) Y82C probably benign Het
Dnajc4 T C 19: 6,966,872 (GRCm39) Q152R probably damaging Het
Dsc1 T C 18: 20,227,615 (GRCm39) K541R probably damaging Het
Elp4 G A 2: 105,624,952 (GRCm39) R196C probably damaging Het
Epha8 GC G 4: 136,666,006 (GRCm39) probably null Het
Ercc6 T C 14: 32,291,864 (GRCm39) V1076A probably benign Het
Fgd4 T C 16: 16,241,793 (GRCm39) Y677C probably damaging Het
Fndc3b C A 3: 27,483,114 (GRCm39) C1028F probably damaging Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gabrr3 T A 16: 59,268,277 (GRCm39) probably null Het
Garem1 C A 18: 21,263,000 (GRCm39) V605L probably benign Het
Gbp7 A T 3: 142,248,778 (GRCm39) D347V probably damaging Het
Gdpd4 A G 7: 97,610,840 (GRCm39) T87A possibly damaging Het
Gm12258 C A 11: 58,750,422 (GRCm39) H532Q probably damaging Het
Herc2 A G 7: 55,756,141 (GRCm39) E727G possibly damaging Het
Idua G T 5: 108,828,902 (GRCm39) R335L probably damaging Het
Ifi207 A G 1: 173,556,633 (GRCm39) S702P probably benign Het
Kif16b A T 2: 142,699,346 (GRCm39) V78D probably damaging Het
Klra17 T A 6: 129,849,232 (GRCm39) D114V probably damaging Het
Krt76 A G 15: 101,794,180 (GRCm39) S481P probably damaging Het
Lhfpl5 A G 17: 28,798,950 (GRCm39) D153G probably damaging Het
Med21 T A 6: 146,550,700 (GRCm39) D70E possibly damaging Het
Mroh3 A T 1: 136,113,237 (GRCm39) M739K probably benign Het
Myo1a A G 10: 127,550,307 (GRCm39) E549G probably damaging Het
Neu1 A G 17: 35,153,359 (GRCm39) D294G possibly damaging Het
Nmur2 A T 11: 55,931,105 (GRCm39) I202K probably benign Het
Nop2 T A 6: 125,114,057 (GRCm39) D174E probably benign Het
Ogfr A T 2: 180,236,216 (GRCm39) H267L probably damaging Het
Or10p1 G T 10: 129,444,053 (GRCm39) A99E possibly damaging Het
Or5m8 A G 2: 85,822,271 (GRCm39) T37A probably damaging Het
P2ry13 T A 3: 59,117,308 (GRCm39) I157F probably benign Het
Pank4 T C 4: 155,063,989 (GRCm39) V660A probably damaging Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pcdhb13 T C 18: 37,577,868 (GRCm39) Y749H probably damaging Het
Pcdhga3 C A 18: 37,809,799 (GRCm39) Q751K probably benign Het
Pcnt C T 10: 76,272,299 (GRCm39) E186K possibly damaging Het
Pecam1 A T 11: 106,575,072 (GRCm39) F613I probably benign Het
Pias2 T C 18: 77,240,488 (GRCm39) *615Q probably null Het
Plb1 A T 5: 32,507,003 (GRCm39) M1193L probably benign Het
Pomgnt1 T C 4: 116,013,396 (GRCm39) L506P probably damaging Het
Qrfp T C 2: 31,698,852 (GRCm39) T27A probably damaging Het
Relb C A 7: 19,361,847 (GRCm39) probably null Het
Resf1 A T 6: 149,228,392 (GRCm39) E479D probably damaging Het
Rgl1 G T 1: 152,400,450 (GRCm39) C685* probably null Het
Ric8b A G 10: 84,753,628 (GRCm39) Y8C probably benign Het
Rrp36 G A 17: 46,980,893 (GRCm39) A161V possibly damaging Het
Samd9l G A 6: 3,375,504 (GRCm39) Q586* probably null Het
Sbf1 C T 15: 89,186,916 (GRCm39) D821N probably damaging Het
Septin8 G C 11: 53,427,545 (GRCm39) A255P probably damaging Het
Skp2 T C 15: 9,113,927 (GRCm39) T329A possibly damaging Het
Slc15a2 C T 16: 36,592,498 (GRCm39) V220M probably damaging Het
Slc25a11 T A 11: 70,536,782 (GRCm39) T63S possibly damaging Het
Sowahc T C 10: 59,058,983 (GRCm39) I373T probably benign Het
Sptbn2 T A 19: 4,798,182 (GRCm39) M1969K probably benign Het
St14 G A 9: 31,015,053 (GRCm39) T315M possibly damaging Het
Tagap G A 17: 8,151,030 (GRCm39) R284H probably benign Het
Tdpoz3 T A 3: 93,733,476 (GRCm39) S50R possibly damaging Het
Thoc5 A G 11: 4,854,187 (GRCm39) D182G probably damaging Het
Tinag A G 9: 76,904,238 (GRCm39) V395A probably benign Het
Tmc8 A G 11: 117,683,550 (GRCm39) S702G probably benign Het
Tmem202 A G 9: 59,426,477 (GRCm39) S230P possibly damaging Het
Tmem203 T C 2: 25,145,764 (GRCm39) V28A probably benign Het
Traf3ip1 A T 1: 91,455,479 (GRCm39) S647C probably damaging Het
Tram1 A T 1: 13,659,870 (GRCm39) I26N probably damaging Het
Ttc6 A T 12: 57,721,478 (GRCm39) D989V possibly damaging Het
Ttll6 A G 11: 96,036,372 (GRCm39) T334A possibly damaging Het
Ttn A T 2: 76,750,086 (GRCm39) D3654E probably damaging Het
Ufd1 T G 16: 18,639,832 (GRCm39) V112G probably damaging Het
Usp9y A T Y: 1,391,284 (GRCm39) Y629N possibly damaging Het
Vmn2r1 A G 3: 63,989,267 (GRCm39) I69V probably benign Het
Zfp180 A T 7: 23,805,246 (GRCm39) Y555F probably damaging Het
Zfp438 T C 18: 5,214,403 (GRCm39) N185S probably benign Het
Zfp445 C T 9: 122,686,215 (GRCm39) V15I possibly damaging Het
Zfp462 A G 4: 55,013,476 (GRCm39) E1814G 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
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
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'- ATGCTGATGTGCCCTGTCTG -3'
(R):5'- CAGTGCATGGTTCTTGTAATATTCG -3'

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