Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Hfm1'

559488

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

045238-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 106901703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148686] [ENSMUST00000200249]

AlphaFold

D3Z4R1

Predicted Effect

probably null
Transcript: ENSMUST00000112690

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410

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

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410

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 benign
Transcript: ENSMUST00000148686

Predicted Effect

probably benign
Transcript: ENSMUST00000200249

SMART Domains

Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410

Domain	Start	End	E-Value	Type
Pfam:ResIII	260	410	9.9e-7	PFAM
Pfam:DEAD	281	410	1.5e-19	PFAM

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (57/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	T	2: 103,567,516 (GRCm38)	A264S	probably benign	Het
Atosa	T	C	9: 75,004,351 (GRCm38)	C42R	probably damaging	Het
Atr	G	T	9: 95,862,791 (GRCm38)	E54*	probably null	Het
Bmp4	A	G	14: 46,383,999 (GRCm38)	S363P	probably damaging	Het
Cfap54	C	A	10: 92,937,728 (GRCm38)	A2077S	unknown	Het
Chrna7	T	C	7: 63,106,027 (GRCm38)	D257G	probably damaging	Het
Chrnd	C	T	1: 87,191,058 (GRCm38)	R46W	probably damaging	Het
Cntn2	A	G	1: 132,517,086 (GRCm38)	I851T	probably damaging	Het
Col3a1	T	A	1: 45,333,657 (GRCm38)	I534K	unknown	Het
Cyp3a25	A	T	5: 146,003,060 (GRCm38)	L46I	probably benign	Het
Dnah7b	G	C	1: 46,242,142 (GRCm38)	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,313,430 (GRCm38)	E301G	probably damaging	Het
Efcab3	T	C	11: 105,095,864 (GRCm38)	S30P	probably benign	Het
Elk4	A	G	1: 132,019,389 (GRCm38)	I373V	probably damaging	Het
Fam161b	T	C	12: 84,348,646 (GRCm38)	S508G	probably damaging	Het
Fgf10	A	G	13: 118,789,123 (GRCm38)	E146G	probably benign	Het
Fsip2	A	G	2: 82,993,237 (GRCm38)	D6438G	possibly damaging	Het
Garin2	C	T	12: 78,712,208 (GRCm38)	P101S	probably benign	Het
Gask1b	T	A	3: 79,886,807 (GRCm38)	L194*	probably null	Het
Gm49355	T	A	14: 12,296,672 (GRCm38)	C10*	probably null	Het
Hivep3	T	C	4: 120,132,219 (GRCm38)	S1956P	probably damaging	Het
Hrh2	A	G	13: 54,221,251 (GRCm38)	S369G	unknown	Het
Hspg2	T	C	4: 137,533,561 (GRCm38)		probably null	Het
Hsph1	T	C	5: 149,630,460 (GRCm38)	Y181C	probably damaging	Het
Kcnh8	A	G	17: 52,894,117 (GRCm38)		probably null	Het
Kctd1	C	T	18: 15,062,643 (GRCm38)	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,460,931 (GRCm38)	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,577,137 (GRCm38)	G107R	probably benign	Het
Lama4	G	A	10: 38,965,733 (GRCm38)		probably benign	Het
Lepr	T	C	4: 101,814,764 (GRCm38)	V995A	probably benign	Het
Mfsd4a	A	T	1: 132,052,393 (GRCm38)	V375E	probably damaging	Het
Mgl2	G	T	11: 70,137,043 (GRCm38)	W359L	probably damaging	Het
Muc5b	C	A	7: 141,861,061 (GRCm38)	Y2581*	probably null	Het
Nol10	G	T	12: 17,373,561 (GRCm38)		probably null	Het
Or4k47	T	A	2: 111,621,193 (GRCm38)	M294L	probably benign	Het
Or52n3	A	T	7: 104,881,141 (GRCm38)	K145*	probably null	Het
Otud3	C	T	4: 138,909,554 (GRCm38)	V99M	probably damaging	Het
Parvb	T	C	15: 84,303,471 (GRCm38)		probably null	Het
Pclo	C	A	5: 14,521,918 (GRCm38)	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm38)		probably benign	Het
Pkn1	A	T	8: 83,692,673 (GRCm38)	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,760,137 (GRCm38)	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,801,058 (GRCm38)	R1559L	possibly damaging	Het
Ppp2r3a	T	A	9: 101,126,422 (GRCm38)	I416L	possibly damaging	Het
Pramel42	T	A	5: 94,537,751 (GRCm38)	Y423*	probably null	Het
Robo1	C	A	16: 72,960,151 (GRCm38)	C333*	probably null	Het
Ryr2	A	T	13: 11,883,123 (GRCm38)	Y129N	probably damaging	Het
Schip1	G	T	3: 68,617,700 (GRCm38)	K359N	probably damaging	Het
Schip1	A	T	3: 68,617,699 (GRCm38)	K359M	probably damaging	Het
Sh2d2a	T	A	3: 87,848,361 (GRCm38)	S65T	possibly damaging	Het
Ssrp1	G	A	2: 85,045,562 (GRCm38)	M588I	probably benign	Het
Stim2	T	A	5: 54,116,128 (GRCm38)	C567S	probably benign	Het
Syne1	C	A	10: 5,424,295 (GRCm38)	A171S	probably benign	Het
Tigd3	A	G	19: 5,893,022 (GRCm38)	S27P	probably benign	Het
Vipr1	C	A	9: 121,664,554 (GRCm38)	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,880,548 (GRCm38)	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,754,917 (GRCm38)	D22A	probably benign	Het
Zbtb24	G	A	10: 41,464,476 (GRCm38)	V523I	probably benign	Het
Zbtb43	A	G	2: 33,462,295 (GRCm38)	F20S	probably benign	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
IGL03351:Hfm1	APN	5	106,911,575 (GRCm38)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCAATGAGATCTGGCACTAA -3'
(R):5'- CTTGATTTCTTGCTTAGGTGCA -3'

Sequencing Primer
(F):5'- GTGGGTATAAGATCCTCACCCTAG -3'
(R):5'- CTTGCTTAGGTGCATGTTATTAAAG -3'

Posted On

2019-06-26