Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03351:Hfm1'

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

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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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