Incidental Mutation 'IGL03351:Hfm1'
ID 419698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hfm1
Ensembl Gene ENSMUSG00000043410
Gene Name HFM1, ATP-dependent DNA helicase homolog
Synonyms LOC381663, A330009G12Rik, Mer3, Sec63d1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL03351
Quality Score
Status
Chromosome 5
Chromosomal Location 106840192-106926321 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 106911575 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 194 (Q194*)
Ref Sequence ENSEMBL: ENSMUSP00000142727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148686] [ENSMUST00000200249]
AlphaFold D3Z4R1
Predicted Effect probably null
Transcript: ENSMUST00000112690
AA Change: Q194*
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: Q194*

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 null
Transcript: ENSMUST00000117588
AA Change: Q194*
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: Q194*

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 null
Transcript: ENSMUST00000200249
AA Change: Q194*
SMART Domains Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410
AA Change: Q194*

DomainStartEndE-ValueType
Pfam:ResIII 260 410 9.9e-7 PFAM
Pfam:DEAD 281 410 1.5e-19 PFAM
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 (GRCm38) V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 (GRCm38) D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 (GRCm38) probably benign Het
5730460C07Rik C T 3: 153,789,958 (GRCm38) noncoding transcript Het
Coch G A 12: 51,603,206 (GRCm38) R326Q probably benign Het
Cpa3 A G 3: 20,215,962 (GRCm38) V366A probably benign Het
Csf1r C T 18: 61,117,108 (GRCm38) Q382* probably null Het
Csta1 C A 16: 36,131,041 (GRCm38) G4* probably null Het
Cts7 T C 13: 61,356,603 (GRCm38) R49G probably damaging Het
Dlg5 A G 14: 24,170,454 (GRCm38) V575A probably benign Het
Ero1l G T 14: 45,294,533 (GRCm38) N227K probably benign Het
Faap24 G T 7: 35,395,309 (GRCm38) C58* probably null Het
Gm13089 G A 4: 143,697,088 (GRCm38) T377I possibly damaging Het
Hs3st5 T A 10: 36,833,323 (GRCm38) Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 (GRCm38) G375R probably damaging Het
Itgb5 T C 16: 33,910,552 (GRCm38) S93P probably benign Het
Kcnj6 A T 16: 94,832,583 (GRCm38) M205K probably damaging Het
Kdm6a C T X: 18,247,104 (GRCm38) Q92* probably null Het
Klhl38 A G 15: 58,323,330 (GRCm38) M1T probably null Het
Krtap7-1 T C 16: 89,507,996 (GRCm38) probably benign Het
L1cam T C X: 73,863,028 (GRCm38) T270A probably damaging Het
Lmod2 A G 6: 24,598,016 (GRCm38) N45S probably benign Het
Mmp2 A G 8: 92,839,342 (GRCm38) I424V probably benign Het
Myh8 A G 11: 67,303,913 (GRCm38) Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 (GRCm38) E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 (GRCm38) T74A probably benign Het
Npr2 G T 4: 43,640,652 (GRCm38) M368I probably benign Het
Nupl1 T C 14: 60,228,775 (GRCm38) T445A probably benign Het
Olfr294 A G 7: 86,615,677 (GRCm38) Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 (GRCm38) D212G probably damaging Het
Pkp3 A G 7: 141,082,693 (GRCm38) T73A probably benign Het
Pole A G 5: 110,301,998 (GRCm38) probably benign Het
Ppp2r3a C T 9: 101,211,192 (GRCm38) G644D probably benign Het
Ptprb T C 10: 116,339,582 (GRCm38) Y1161H probably benign Het
Ptprs T A 17: 56,437,943 (GRCm38) K264N probably damaging Het
Rasal2 T C 1: 157,192,741 (GRCm38) probably benign Het
Serpina6 A T 12: 103,646,913 (GRCm38) I376N probably damaging Het
Setx T G 2: 29,161,799 (GRCm38) I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 (GRCm38) D99G probably benign Het
Taok1 A G 11: 77,560,328 (GRCm38) Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 (GRCm38) D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 (GRCm38) E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 (GRCm38) V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 (GRCm38) S152C probably damaging Het
Washc5 C A 15: 59,363,350 (GRCm38) probably benign Het
Zfp369 T G 13: 65,296,153 (GRCm38) L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 (GRCm38) Y234C 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
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
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
Posted On 2016-08-02