Incidental Mutation 'R6980:Hfm1'
ID 543763
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 045088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6980 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 106988058-107074187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107028343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 829 (I829K)
Ref Sequence ENSEMBL: ENSMUSP00000112590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148495]
AlphaFold D3Z4R1
Predicted Effect probably benign
Transcript: ENSMUST00000112690
AA Change: I829K

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: I829K

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: I829K

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: I829K

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: ENSMUST00000148495
Predicted Effect
SMART Domains Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410
AA Change: I86K

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
Sec63 33 304 3.04e-42 SMART
Blast:Sec63 344 402 7e-19 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C A 2: 25,330,878 (GRCm39) R1189S possibly damaging Het
Abcf2 T C 5: 24,770,970 (GRCm39) Q594R probably benign Het
Abhd18 G A 3: 40,888,215 (GRCm39) S353N probably benign Het
Adrb1 G T 19: 56,712,046 (GRCm39) A415S probably benign Het
Art2b T C 7: 101,229,680 (GRCm39) N73S probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGT CACTGGTTCTGTGGTTACTGGTTCTGTGGT 3: 95,795,480 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,451 (GRCm39) probably benign Het
Cacna1a A G 8: 85,338,914 (GRCm39) M1753V possibly damaging Het
Cbx8 A T 11: 118,930,287 (GRCm39) I102N possibly damaging Het
Ccdc178 T A 18: 22,238,620 (GRCm39) E332D probably benign Het
Cdhr17 T A 5: 17,031,944 (GRCm39) V533D possibly damaging Het
Cfap74 G A 4: 155,550,809 (GRCm39) probably benign Het
Chat A T 14: 32,146,111 (GRCm39) M354K probably benign Het
Cmas A G 6: 142,702,526 (GRCm39) T10A probably damaging Het
Cyb561d1 A T 3: 108,107,475 (GRCm39) L51H probably benign Het
D030056L22Rik A T 19: 18,694,629 (GRCm39) N128I probably damaging Het
D130043K22Rik G T 13: 25,048,764 (GRCm39) A423S probably damaging Het
Dnah14 T C 1: 181,475,795 (GRCm39) I1349T probably benign Het
Dnajb3 T G 1: 88,132,736 (GRCm39) D222A probably damaging Het
Dtx1 T C 5: 120,819,422 (GRCm39) E592G probably damaging Het
Dzank1 C T 2: 144,332,056 (GRCm39) G427R possibly damaging Het
E130308A19Rik A C 4: 59,719,991 (GRCm39) K508Q probably damaging Het
Eif4e1b T A 13: 54,931,916 (GRCm39) probably null Het
Ell2 A G 13: 75,904,495 (GRCm39) M159V probably null Het
Eml4 G A 17: 83,758,446 (GRCm39) V377I probably benign Het
Fryl A T 5: 73,207,773 (GRCm39) S2466T probably benign Het
Gfpt1 C A 6: 87,054,071 (GRCm39) T426K probably damaging Het
Gm49355 T C 14: 12,307,173 (GRCm38) probably benign Het
Gm5114 T C 7: 39,058,624 (GRCm39) I332V probably benign Het
Gpr15 T A 16: 58,539,105 (GRCm39) probably benign Het
Gpr179 T C 11: 97,225,684 (GRCm39) E2157G probably benign Het
Gramd4 A G 15: 86,016,170 (GRCm39) N482S probably benign Het
Hydin A T 8: 111,139,916 (GRCm39) E728D possibly damaging Het
Ifngr2 T A 16: 91,356,895 (GRCm39) V143E probably damaging Het
Ift172 T C 5: 31,414,730 (GRCm39) D1390G probably benign Het
Kdf1 A T 4: 133,256,138 (GRCm39) D285V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mdn1 G A 4: 32,726,942 (GRCm39) probably null Het
Megf11 A G 9: 64,613,132 (GRCm39) E1016G probably damaging Het
Mixl1 G A 1: 180,524,453 (GRCm39) A42V possibly damaging Het
Mpp2 A G 11: 101,950,154 (GRCm39) W567R probably damaging Het
Mrgpra6 A G 7: 46,838,697 (GRCm39) L136P probably damaging Het
Mroh7 T A 4: 106,557,434 (GRCm39) I759L probably benign Het
Nrxn2 A G 19: 6,500,609 (GRCm39) D277G probably benign Het
Nup210l A T 3: 90,027,234 (GRCm39) K205N probably benign Het
Or4g17 A G 2: 111,209,620 (GRCm39) I92V possibly damaging Het
Or4p4b-ps1 A G 2: 88,453,939 (GRCm39) *97W probably null Het
Or52e19b T C 7: 103,032,303 (GRCm39) E302G probably benign Het
Or5al6 A T 2: 85,976,681 (GRCm39) Y132* probably null Het
Oxnad1 C T 14: 31,807,576 (GRCm39) probably benign Het
Pamr1 C T 2: 102,472,549 (GRCm39) T616I probably benign Het
Pcdhgb5 C T 18: 37,866,592 (GRCm39) H796Y possibly damaging Het
Pdlim7 G T 13: 55,656,041 (GRCm39) D126E probably benign Het
Pfdn2 C T 1: 171,185,465 (GRCm39) probably benign Het
Piezo2 T A 18: 63,216,032 (GRCm39) probably null Het
Pms2 A T 5: 143,848,842 (GRCm39) I43L probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Ptpn4 T A 1: 119,671,151 (GRCm39) E202D possibly damaging Het
Rnf40 T A 7: 127,193,849 (GRCm39) V455E probably damaging Het
Rp1l1 A G 14: 64,266,169 (GRCm39) N585S probably benign Het
Rrp12 A G 19: 41,878,582 (GRCm39) S188P probably damaging Het
Rsbn1l T A 5: 21,101,482 (GRCm39) H686L probably benign Het
Runx2 C T 17: 45,046,203 (GRCm39) V107I possibly damaging Het
Rusc2 A G 4: 43,422,846 (GRCm39) I994M probably benign Het
Ryr1 T A 7: 28,808,812 (GRCm39) D420V probably benign Het
Sash1 T C 10: 8,605,612 (GRCm39) Q926R probably benign Het
Scgb3a2 T A 18: 43,897,499 (GRCm39) I6N probably damaging Het
Sdc3 T A 4: 130,544,233 (GRCm39) probably benign Het
Sik2 A G 9: 50,808,755 (GRCm39) V658A probably benign Het
Slc25a39 A G 11: 102,296,601 (GRCm39) V81A probably damaging Het
Snai2 T A 16: 14,526,113 (GRCm39) S255T possibly damaging Het
Sorbs1 A T 19: 40,316,060 (GRCm39) Y371* probably null Het
Spata31d1b A T 13: 59,863,236 (GRCm39) H128L probably benign Het
Spdl1 A T 11: 34,721,706 (GRCm39) M1K probably null Het
Tgm3 T A 2: 129,868,697 (GRCm39) N211K probably benign Het
Tmem116 T C 5: 121,606,050 (GRCm39) probably null Het
Tmem132e T A 11: 82,329,212 (GRCm39) probably null Het
Tmem53 T C 4: 117,125,705 (GRCm39) C251R probably damaging Het
Trcg1 A C 9: 57,152,856 (GRCm39) D551A probably damaging Het
Trp63 T A 16: 25,620,843 (GRCm39) F12I probably benign Het
Ttn C T 2: 76,709,401 (GRCm39) probably null Het
Tubgcp4 T C 2: 121,025,946 (GRCm39) V596A probably benign Het
Ugt2a3 A C 5: 87,473,491 (GRCm39) H475Q probably damaging Het
Unc79 G A 12: 103,025,759 (GRCm39) R382K probably damaging Het
Vmn2r58 T C 7: 41,513,662 (GRCm39) H327R possibly damaging Het
Vmn2r7 G A 3: 64,623,987 (GRCm39) T111I possibly damaging Het
Zfp318 T A 17: 46,708,138 (GRCm39) Y399N probably damaging 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
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
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'- GAATCACAAACCAGTATGCAGTAG -3'
(R):5'- GCCAAGGTGTGTCTAAACAAC -3'

Sequencing Primer
(F):5'- ACCAGTATGCAGTAGTTTAATTCATC -3'
(R):5'- GTGATTTGTTAACTTGACAGTT -3'
Posted On 2019-05-13