Incidental Mutation 'IGL02496:Hfm1'
ID295847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hfm1
Ensembl Gene ENSMUSG00000043410
Gene NameHFM1, ATP-dependent DNA helicase homolog
SynonymsLOC381663, A330009G12Rik, Mer3, Sec63d1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL02496
Quality Score
Status
Chromosome5
Chromosomal Location106840192-106926321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106901761 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 445 (S445G)
Ref Sequence ENSEMBL: ENSMUSP00000112590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148686] [ENSMUST00000200249]
Predicted Effect probably benign
Transcript: ENSMUST00000112690
AA Change: S445G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: S445G

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: S445G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: S445G

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 benign
Transcript: ENSMUST00000200249
SMART Domains Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,288,553 H1456P possibly damaging Het
Abcg1 C A 17: 31,105,604 H274Q probably damaging Het
Adamts4 G A 1: 171,250,943 R44Q probably benign Het
Amigo2 A T 15: 97,245,613 C309* probably null Het
Ccdc88c A C 12: 100,953,293 S446A probably benign Het
Cd9 A T 6: 125,472,495 V28E probably damaging Het
Cops2 A T 2: 125,836,243 probably benign Het
Csn1s1 C T 5: 87,677,594 probably benign Het
Cul9 G T 17: 46,540,376 R373S possibly damaging Het
D630045J12Rik G T 6: 38,149,705 H1457N probably damaging Het
Dnah9 A G 11: 66,029,363 S2235P probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo10 A T 4: 45,043,883 W647R probably damaging Het
Flnb T A 14: 7,930,919 probably benign Het
Flnc G T 6: 29,440,685 V301L probably damaging Het
Hif3a A G 7: 17,039,678 probably benign Het
Hsd17b4 T C 18: 50,155,153 Y217H probably damaging Het
Iba57 T C 11: 59,158,946 T192A probably benign Het
Igkv5-48 A T 6: 69,726,687 I78N probably damaging Het
Inhbe A T 10: 127,350,928 W128R probably damaging Het
Ism1 T C 2: 139,757,201 C365R probably damaging Het
Kif19a A T 11: 114,779,644 T127S probably damaging Het
Kmt2d C A 15: 98,857,558 probably benign Het
Mmp20 A G 9: 7,654,041 R321G probably damaging Het
Msl2 T C 9: 101,100,655 M76T possibly damaging Het
Nme9 T C 9: 99,469,631 C223R probably damaging Het
Nucb1 G T 7: 45,495,043 probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1450 T A 19: 12,954,192 I201N possibly damaging Het
Olfr449 A C 6: 42,838,804 I308L probably benign Het
Olfr46 A C 7: 140,610,168 M1L probably benign Het
P4ha1 A G 10: 59,371,002 probably null Het
Parp8 T C 13: 116,862,302 probably benign Het
Pcdhb6 A G 18: 37,335,454 D476G probably damaging Het
Pikfyve A G 1: 65,264,376 E1685G possibly damaging Het
Plod2 T A 9: 92,607,094 L714Q probably damaging Het
Plscr2 A G 9: 92,289,663 I103V probably benign Het
Plscr3 C A 11: 69,847,383 probably benign Het
Pmaip1 A G 18: 66,463,299 R80G probably damaging Het
Ppm1d C T 11: 85,339,666 P370L possibly damaging Het
Prr36 C A 8: 4,216,407 E48* probably null Het
Ptgir G A 7: 16,907,484 V234I possibly damaging Het
Ptk7 A T 17: 46,590,144 V219E probably benign Het
Rab39b T A X: 75,575,003 I74F probably damaging Het
Rasal2 A T 1: 157,149,879 M1075K possibly damaging Het
Rpl37a G A 1: 72,711,726 A20T probably null Het
Serpinb10 A C 1: 107,538,425 probably null Het
Sipa1l1 T A 12: 82,425,094 Y1283N probably damaging Het
Slc22a23 T A 13: 34,344,485 I105F possibly damaging Het
Slc25a20 T A 9: 108,682,400 I221N probably damaging Het
Smarcal1 A T 1: 72,620,088 H691L probably damaging Het
Smo A C 6: 29,758,481 T542P probably damaging Het
Spats2 T A 15: 99,173,448 I51N probably damaging Het
Spon1 G T 7: 114,036,662 V704L probably benign Het
St5 C A 7: 109,556,235 R436L possibly damaging Het
Tex9 T A 9: 72,482,492 Q112L probably benign Het
Tgfbr2 T C 9: 116,090,418 E580G probably benign Het
Top2b T A 14: 16,387,335 V141E probably benign Het
Trhde A T 10: 114,800,561 L247* probably null Het
Umodl1 G T 17: 30,998,654 V1145F probably damaging Het
Vasp C A 7: 19,258,823 probably benign Het
Vmn1r8 G T 6: 57,036,571 L202F probably damaging Het
Vmn2r111 T C 17: 22,568,856 T505A probably benign Het
Wdr27 A G 17: 14,892,431 probably benign Het
Wfdc1 T G 8: 119,680,170 V109G probably damaging Het
Zan C A 5: 137,464,794 E708* probably null Het
Zbtb1 T A 12: 76,385,395 F52I possibly damaging Het
Zfp236 A G 18: 82,629,992 S1015P probably damaging Het
Zfp532 T C 18: 65,624,042 S349P probably damaging Het
Znfx1 A T 2: 167,047,630 C731S possibly damaging Het
Other mutations in Hfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Hfm1 APN 5 106902130 missense possibly damaging 0.70
IGL01295:Hfm1 APN 5 106917606 missense possibly damaging 0.46
IGL01725:Hfm1 APN 5 106917379 missense probably benign 0.00
IGL01758:Hfm1 APN 5 106904793 missense probably damaging 0.99
IGL01911:Hfm1 APN 5 106911544 missense possibly damaging 0.92
IGL02337:Hfm1 APN 5 106904267 missense possibly damaging 0.81
IGL02472:Hfm1 APN 5 106873928 splice site probably benign
IGL02545:Hfm1 APN 5 106895287 missense probably damaging 1.00
IGL02584:Hfm1 APN 5 106878662 splice site probably null
IGL02728:Hfm1 APN 5 106878823 missense probably benign 0.13
IGL02881:Hfm1 APN 5 106874252 missense probably damaging 1.00
IGL03108:Hfm1 APN 5 106895934 unclassified probably benign
IGL03351:Hfm1 APN 5 106911575 nonsense probably null
IGL03353:Hfm1 APN 5 106856929 missense probably damaging 0.99
R0024:Hfm1 UTSW 5 106856924 missense probably benign 0.41
R0024:Hfm1 UTSW 5 106856924 missense probably benign 0.41
R0094:Hfm1 UTSW 5 106917478 missense probably benign
R0633:Hfm1 UTSW 5 106917601 missense possibly damaging 0.56
R0644:Hfm1 UTSW 5 106898256 critical splice donor site probably null
R1078:Hfm1 UTSW 5 106878830 missense probably damaging 1.00
R1120:Hfm1 UTSW 5 106904218 splice site probably benign
R1166:Hfm1 UTSW 5 106911411 missense probably benign 0.00
R1242:Hfm1 UTSW 5 106874901 missense probably damaging 0.99
R1414:Hfm1 UTSW 5 106872353 missense probably benign 0.01
R1450:Hfm1 UTSW 5 106918458 missense probably damaging 0.99
R1529:Hfm1 UTSW 5 106853123 missense probably benign 0.00
R1622:Hfm1 UTSW 5 106893523 missense possibly damaging 0.58
R1710:Hfm1 UTSW 5 106880514 missense probably damaging 1.00
R1710:Hfm1 UTSW 5 106896003 missense probably damaging 0.96
R1757:Hfm1 UTSW 5 106880360 splice site probably null
R1856:Hfm1 UTSW 5 106847676 missense probably benign 0.00
R1984:Hfm1 UTSW 5 106898576 missense probably damaging 0.98
R1985:Hfm1 UTSW 5 106898576 missense probably damaging 0.98
R2040:Hfm1 UTSW 5 106901818 missense probably damaging 1.00
R2122:Hfm1 UTSW 5 106896255 missense probably damaging 1.00
R2426:Hfm1 UTSW 5 106847653 splice site probably null
R2474:Hfm1 UTSW 5 106872416 missense possibly damaging 0.81
R2926:Hfm1 UTSW 5 106874282 nonsense probably null
R2944:Hfm1 UTSW 5 106872330 missense probably damaging 1.00
R3705:Hfm1 UTSW 5 106892839 unclassified probably benign
R4256:Hfm1 UTSW 5 106904797 missense possibly damaging 0.83
R4455:Hfm1 UTSW 5 106886508 splice site probably null
R4538:Hfm1 UTSW 5 106874890 missense possibly damaging 0.47
R4540:Hfm1 UTSW 5 106874221 nonsense probably null
R4591:Hfm1 UTSW 5 106847667 missense probably benign 0.08
R4745:Hfm1 UTSW 5 106901843 missense possibly damaging 0.87
R4747:Hfm1 UTSW 5 106917523 missense probably benign
R4765:Hfm1 UTSW 5 106842539 missense probably benign 0.21
R4821:Hfm1 UTSW 5 106854740 critical splice donor site probably null
R4842:Hfm1 UTSW 5 106892751 missense probably damaging 1.00
R4944:Hfm1 UTSW 5 106874213 missense possibly damaging 0.46
R5093:Hfm1 UTSW 5 106901731 missense probably damaging 1.00
R5399:Hfm1 UTSW 5 106917562 missense possibly damaging 0.91
R5414:Hfm1 UTSW 5 106902076 missense probably damaging 1.00
R5436:Hfm1 UTSW 5 106892772 missense possibly damaging 0.61
R5459:Hfm1 UTSW 5 106904763 missense probably damaging 1.00
R5485:Hfm1 UTSW 5 106847662 critical splice donor site probably null
R5585:Hfm1 UTSW 5 106911439 missense probably benign 0.05
R5631:Hfm1 UTSW 5 106904763 missense probably damaging 1.00
R5705:Hfm1 UTSW 5 106911453 missense probably benign 0.21
R5804:Hfm1 UTSW 5 106878589 splice site probably null
R5959:Hfm1 UTSW 5 106874917 missense probably damaging 1.00
R6046:Hfm1 UTSW 5 106898643 splice site probably null
R6191:Hfm1 UTSW 5 106886553 missense possibly damaging 0.95
R6345:Hfm1 UTSW 5 106841638 missense probably benign
R6580:Hfm1 UTSW 5 106847709 missense probably benign 0.00
R6651:Hfm1 UTSW 5 106847687 missense probably benign 0.00
R6761:Hfm1 UTSW 5 106895279 missense probably damaging 1.00
R6835:Hfm1 UTSW 5 106878815 nonsense probably null
R6891:Hfm1 UTSW 5 106917374 missense possibly damaging 0.49
R6924:Hfm1 UTSW 5 106850410 splice site probably null
R6980:Hfm1 UTSW 5 106880477 missense probably benign 0.31
R7054:Hfm1 UTSW 5 106896043 missense probably benign 0.01
R7058:Hfm1 UTSW 5 106911440 missense probably benign 0.04
R7189:Hfm1 UTSW 5 106901703 critical splice donor site probably null
R7250:Hfm1 UTSW 5 106904331 missense probably benign 0.00
R7376:Hfm1 UTSW 5 106895218 missense possibly damaging 0.95
R7577:Hfm1 UTSW 5 106896043 missense probably benign 0.01
R7636:Hfm1 UTSW 5 106917466 missense probably benign 0.02
R7639:Hfm1 UTSW 5 106889925 missense probably benign 0.03
R7639:Hfm1 UTSW 5 106898475 missense possibly damaging 0.46
R7763:Hfm1 UTSW 5 106881861 missense probably damaging 1.00
R7828:Hfm1 UTSW 5 106881791 critical splice donor site probably null
R7905:Hfm1 UTSW 5 106898553 missense probably damaging 1.00
R8160:Hfm1 UTSW 5 106896033 missense probably null 0.00
Z1177:Hfm1 UTSW 5 106871820 missense probably benign
Posted On2015-04-16