Incidental Mutation 'R7577:Hfm1'
ID 586496
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 045662-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R7577 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 106988058-107074187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107043909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 576 (T576A)
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: T576A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: T576A

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: T576A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: T576A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik C T 10: 78,902,325 (GRCm39) V664M possibly damaging Het
Abca4 A G 3: 121,967,663 (GRCm39) T2238A probably damaging Het
Adss2 G A 1: 177,595,263 (GRCm39) Q426* probably null Het
Afap1l2 T C 19: 56,933,199 (GRCm39) E71G probably damaging Het
Afg1l T C 10: 42,194,607 (GRCm39) D395G probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Alms1 A G 6: 85,592,302 (GRCm39) T385A probably benign Het
Ank3 C T 10: 69,828,402 (GRCm39) T2357I Het
Ankfn1 T A 11: 89,394,797 (GRCm39) S263C probably benign Het
Atpsckmt C T 15: 31,606,186 (GRCm39) A48V probably damaging Het
Azin1 C T 15: 38,501,665 (GRCm39) V29I probably benign Het
B3galt2 T C 1: 143,523,042 (GRCm39) Y393H probably damaging Het
Cnbd2 G T 2: 156,170,296 (GRCm39) R127L possibly damaging Het
Col6a5 A T 9: 105,741,887 (GRCm39) L2344* probably null Het
Csn3 T C 5: 88,077,821 (GRCm39) V109A not run Het
Cxcr2 C G 1: 74,198,074 (GRCm39) N189K probably benign Het
Dclre1a A G 19: 56,517,965 (GRCm39) F1038S probably damaging Het
Ddx21 T C 10: 62,426,449 (GRCm39) Q468R probably benign Het
Dlx6 A G 6: 6,863,423 (GRCm39) D15G probably damaging Het
Dnajb14 T C 3: 137,610,558 (GRCm39) V262A possibly damaging Het
Dpp7 A G 2: 25,245,603 (GRCm39) V161A probably benign Het
Enkur C T 2: 21,209,913 (GRCm39) S16N probably benign Het
Ensa C A 3: 95,535,956 (GRCm39) H96Q probably damaging Het
Ero1b T G 13: 12,617,254 (GRCm39) C393G probably damaging Het
Fbxo3 T C 2: 103,881,543 (GRCm39) F292L possibly damaging Het
Fcgbpl1 A G 7: 27,853,848 (GRCm39) D1604G possibly damaging Het
Fos T C 12: 85,521,871 (GRCm39) S102P probably benign Het
Foxs1 C T 2: 152,774,361 (GRCm39) G231S probably benign Het
Furin T C 7: 80,046,734 (GRCm39) D174G probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Gm32687 T A 10: 81,716,023 (GRCm39) C472S probably damaging Het
Gmip A G 8: 70,267,085 (GRCm39) E327G probably benign Het
Gpld1 A G 13: 25,146,388 (GRCm39) T211A probably benign Het
Grin2d T C 7: 45,511,803 (GRCm39) H214R probably benign Het
Hnrnpd A T 5: 100,115,113 (GRCm39) F142I probably damaging Het
Krt32 T A 11: 99,972,047 (GRCm39) T434S probably benign Het
Lct T G 1: 128,228,469 (GRCm39) D1008A probably damaging Het
Man1c1 A G 4: 134,291,814 (GRCm39) probably null Het
Marchf7 T A 2: 60,060,048 (GRCm39) C58* probably null Het
Mccc1 C T 3: 36,029,943 (GRCm39) probably null Het
Mybpc1 T A 10: 88,385,187 (GRCm39) D484V probably damaging Het
Myh10 T A 11: 68,636,806 (GRCm39) C227S unknown Het
Niban1 T A 1: 151,594,063 (GRCm39) V916E probably benign Het
Nin T C 12: 70,109,480 (GRCm39) E153G Het
Nr1h2 G A 7: 44,200,216 (GRCm39) T313M probably damaging Het
Or4g7 T A 2: 111,309,477 (GRCm39) I116K probably damaging Het
Or5k15 G T 16: 58,709,629 (GRCm39) A318D probably benign Het
Otog C A 7: 45,937,279 (GRCm39) H1663N possibly damaging Het
Piezo2 G T 18: 63,186,081 (GRCm39) T1696K probably benign Het
Plcd1 A T 9: 118,901,322 (GRCm39) N703K possibly damaging Het
Plekhg4 T A 8: 106,102,031 (GRCm39) C7S probably benign Het
Pnma2 A G 14: 67,153,428 (GRCm39) probably benign Het
Potegl A G 2: 23,097,837 (GRCm39) Y5C probably benign Het
Prag1 A G 8: 36,614,096 (GRCm39) Y1216C probably damaging Het
Prima1 T C 12: 103,163,566 (GRCm39) Y135C probably damaging Het
Prkce C A 17: 86,800,721 (GRCm39) S379* probably null Het
Prmt7 A G 8: 106,968,835 (GRCm39) N383S probably damaging Het
Ptafr A G 4: 132,307,063 (GRCm39) Y151C probably damaging Het
Ptprn2 T C 12: 116,449,486 (GRCm39) M1T probably null Het
Rad23a A T 8: 85,565,108 (GRCm39) S136T probably benign Het
Rnf123 A T 9: 107,947,818 (GRCm39) Y137N probably damaging Het
Sfxn4 A C 19: 60,842,324 (GRCm39) I126S probably benign Het
Slc4a4 A G 5: 89,373,726 (GRCm39) H935R probably damaging Het
Slitrk3 T G 3: 72,958,448 (GRCm39) N108T probably damaging Het
Spred1 T A 2: 117,007,806 (GRCm39) H237Q probably benign Het
Syne1 T A 10: 5,074,820 (GRCm39) K1168N probably damaging Het
Syt14 T C 1: 192,665,885 (GRCm39) K340E unknown Het
Tespa1 T C 10: 130,190,624 (GRCm39) S84P probably damaging Het
Tmem268 G T 4: 63,480,681 (GRCm39) probably benign Het
Tmem52b T A 6: 129,493,040 (GRCm39) Y48* probably null Het
Tox2 C A 2: 163,157,822 (GRCm39) Y295* probably null Het
Trp53bp1 T G 2: 121,067,119 (GRCm39) T536P possibly damaging Het
Tysnd1 T C 10: 61,531,665 (GRCm39) C106R probably benign Het
Unc5d T C 8: 29,381,449 (GRCm39) I63V probably damaging Het
Vmn1r235 A G 17: 21,481,881 (GRCm39) N69D possibly damaging Het
Vps11 A T 9: 44,260,258 (GRCm39) M868K probably benign Het
Wipf3 A G 6: 54,462,509 (GRCm39) T240A possibly damaging Het
Xirp2 G A 2: 67,345,309 (GRCm39) E2517K possibly damaging Het
Ylpm1 T A 12: 85,043,994 (GRCm39) L244Q unknown Het
Zdhhc18 G T 4: 133,342,520 (GRCm39) S198* probably null Het
Zfp760 T A 17: 21,941,242 (GRCm39) L139* probably null 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
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
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'- TTACTGTAATATGGATGCACAGTTC -3'
(R):5'- TTCTATAAGGGATTCAAAGCTGAAAGG -3'

Sequencing Primer
(F):5'- TCTGTAACAAGATCTGGCGC -3'
(R):5'- CAAAGCTGAAAGGTAAGTTTAAAGAC -3'
Posted On 2019-10-24