Mutagenetix > Incidental Mutation

Incidental Mutation 'R6924:Hfm1'

539785

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

045042-MU

Accession Numbers

Essential gene?

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

Stock #

R6924 (G1)

Quality Score

100.008

Status

Validated

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 106850410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148495]

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: ENSMUST00000148495

Predicted Effect

probably null
Transcript: ENSMUST00000155171

SMART Domains

Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
Sec63	33	304	3.04e-42	SMART
Blast:Sec63	344	402	7e-19	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,884 (GRCm38)	H30P	probably damaging	Het
Abhd6	A	T	14: 8,049,850 (GRCm38)	H213L	possibly damaging	Het
Adam22	T	A	5: 8,367,322 (GRCm38)	N40I	possibly damaging	Het
Ankrd42	A	G	7: 92,582,016 (GRCm38)		probably benign	Het
Arhgap40	C	T	2: 158,527,146 (GRCm38)	R63C	probably benign	Het
Atf7ip	T	G	6: 136,559,757 (GRCm38)		probably null	Het
Atg7	T	C	6: 114,709,211 (GRCm38)		probably null	Het
Car6	A	C	4: 150,189,256 (GRCm38)		probably null	Het
Carmil1	A	T	13: 24,075,684 (GRCm38)	C302*	probably null	Het
Ccdc117	A	T	11: 5,534,255 (GRCm38)	M195K	probably benign	Het
Cep95	T	C	11: 106,811,197 (GRCm38)	M383T	probably damaging	Het
Col20a1	A	G	2: 180,996,850 (GRCm38)	E419G	probably damaging	Het
Cyp2d9	C	G	15: 82,455,212 (GRCm38)	R272G	probably damaging	Het
Dhx57	A	T	17: 80,238,815 (GRCm38)	M1380K	possibly damaging	Het
Dnah14	A	G	1: 181,627,952 (GRCm38)	S881G	probably benign	Het
Fam126a	T	C	5: 23,986,135 (GRCm38)		probably null	Het
Fcgbp	T	A	7: 28,093,823 (GRCm38)	I1084N	probably benign	Het
Fgf17	A	T	14: 70,641,541 (GRCm38)	C21*	probably null	Het
Gemin4	A	G	11: 76,212,336 (GRCm38)	L533P	probably damaging	Het
Gkn3	T	C	6: 87,388,802 (GRCm38)	R12G	probably benign	Het
Gpr161	G	T	1: 165,321,619 (GRCm38)	R519L	possibly damaging	Het
Grin2a	A	G	16: 9,663,228 (GRCm38)	V535A	possibly damaging	Het
Gys1	G	A	7: 45,443,635 (GRCm38)		probably null	Het
Hmcn2	T	A	2: 31,350,505 (GRCm38)		probably null	Het
Hnrnpul2	T	C	19: 8,831,509 (GRCm38)	Y738H	unknown	Het
Igsf23	A	G	7: 19,941,759 (GRCm38)	S141P	possibly damaging	Het
Lamc3	A	C	2: 31,938,069 (GRCm38)	M1423L	probably benign	Het
Lcmt2	T	C	2: 121,140,003 (GRCm38)	T200A	probably benign	Het
Lgr4	T	C	2: 110,012,439 (GRCm38)	V899A	probably damaging	Het
Macf1	T	A	4: 123,527,352 (GRCm38)	R36S	possibly damaging	Het
Mrgprb8	A	G	7: 48,389,123 (GRCm38)	K181E	possibly damaging	Het
Muc2	G	A	7: 141,697,834 (GRCm38)	V786M	possibly damaging	Het
Nacc2	T	C	2: 26,090,029 (GRCm38)	T132A	probably damaging	Het
Nsmce2	T	A	15: 59,378,925 (GRCm38)	I15K	probably damaging	Het
Olfr726	A	G	14: 50,083,850 (GRCm38)	I277T	possibly damaging	Het
Olfr9	T	G	10: 128,990,091 (GRCm38)	Y60D	probably damaging	Het
Otoa	A	T	7: 121,131,501 (GRCm38)		probably null	Het
Otogl	A	G	10: 107,808,641 (GRCm38)	I1248T	probably damaging	Het
Ppp1r17	T	A	6: 56,026,022 (GRCm38)	D32E	probably damaging	Het
Relt	A	C	7: 100,847,261 (GRCm38)	V427G	probably damaging	Het
Ric1	T	A	19: 29,569,388 (GRCm38)	V256D	probably damaging	Het
Samhd1	T	C	2: 157,109,483 (GRCm38)	T445A	probably benign	Het
Sepsecs	T	C	5: 52,664,304 (GRCm38)	I189V	probably benign	Het
Shroom3	T	A	5: 92,964,403 (GRCm38)	D1793E	probably damaging	Het
Sim1	C	T	10: 50,908,539 (GRCm38)	T137I	probably benign	Het
Stk17b	A	T	1: 53,761,059 (GRCm38)	D253E	possibly damaging	Het
Stmnd1	T	C	13: 46,299,493 (GRCm38)	V215A	probably benign	Het
Tcl1	A	G	12: 105,218,756 (GRCm38)	L65P	probably damaging	Het
Tiam2	A	C	17: 3,507,795 (GRCm38)	K1231N	probably damaging	Het
Tm9sf3	T	C	19: 41,218,278 (GRCm38)	Y476C	probably damaging	Het
Trim63	T	C	4: 134,321,261 (GRCm38)	S194P	probably damaging	Het
Ugt1a10	T	A	1: 88,055,657 (GRCm38)	I59N	probably damaging	Het
Vmn2r65	A	G	7: 84,963,990 (GRCm38)	F7S	probably benign	Het
Zfp775	T	A	6: 48,619,655 (GRCm38)	H154Q	probably damaging	Het
Zfp804b	C	T	5: 6,769,902 (GRCm38)	V1018I	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
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

Predicted Primers

PCR Primer
(F):5'- AGAATGTCTATTCCCCAGCTATAGAG -3'
(R):5'- CATAAGCATTGCCTTCTTCAGC -3'

Sequencing Primer
(F):5'- GGATTCCAGTCTGTACAACTACAAG -3'
(R):5'- GCATTGCCTTCTTCAGCCACAG -3'

Posted On

2018-11-06