Mutagenetix > Incidental Mutation

Incidental Mutation 'R6651:Hfm1'

527779

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

044772-MU

Accession Numbers

Essential gene?

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

Stock #

R6651 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106847687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1286 (D1286G)

Ref Sequence

ENSEMBL: ENSMUSP00000112590 (fasta)

Gene Model

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

AlphaFold

D3Z4R1

Predicted Effect

probably benign
Transcript: ENSMUST00000112690
AA Change: D1286G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: D1286G

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: ENSMUST00000117588
AA Change: D1286G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: D1286G

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

unknown
Transcript: ENSMUST00000155171
AA Change: D499G

SMART Domains

Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410
AA Change: D499G

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,498,072 (GRCm38)	S198A	possibly damaging	Het
Adamts15	A	T	9: 30,922,152 (GRCm38)	I29N	probably damaging	Het
Ankrd61	A	T	5: 143,893,620 (GRCm38)	I33N	probably damaging	Het
Arl6ip1	C	T	7: 118,129,485 (GRCm38)	R7H	probably benign	Het
Atp8a2	A	T	14: 59,774,021 (GRCm38)	D946E	probably benign	Het
Cc2d2b	A	T	19: 40,778,129 (GRCm38)	Q114L	probably damaging	Het
Ccdc163	T	A	4: 116,709,064 (GRCm38)	S16R	possibly damaging	Het
Chil6	C	T	3: 106,404,260 (GRCm38)	C68Y	probably damaging	Het
Cngb3	G	T	4: 19,375,231 (GRCm38)	R287L	probably benign	Het
Crem	C	T	18: 3,325,428 (GRCm38)	R16H	probably benign	Het
Cyp4f16	C	T	17: 32,544,144 (GRCm38)	R188C	probably benign	Het
Dap	A	G	15: 31,273,207 (GRCm38)	D46G	probably damaging	Het
Dnah7c	C	A	1: 46,649,340 (GRCm38)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,649,351 (GRCm38)	S1894G	probably benign	Het
Enam	T	C	5: 88,502,917 (GRCm38)	Y687H	probably damaging	Het
Fzd4	A	T	7: 89,404,802 (GRCm38)	D39V	possibly damaging	Het
Ggta1	G	T	2: 35,402,294 (GRCm38)	H334N	probably benign	Het
Golga3	C	T	5: 110,218,130 (GRCm38)	R1254*	probably null	Het
Gpt2	G	A	8: 85,518,052 (GRCm38)	E325K	probably benign	Het
Helz2	C	T	2: 181,239,557 (GRCm38)	W377*	probably null	Het
Hhatl	T	C	9: 121,784,702 (GRCm38)	R425G	probably damaging	Het
Hivep3	G	A	4: 120,122,949 (GRCm38)	R1728H	probably damaging	Het
Hyal1	A	G	9: 107,579,371 (GRCm38)	Y419C	probably damaging	Het
Ighv8-12	A	T	12: 115,648,024 (GRCm38)	D84E	possibly damaging	Het
Itln1	A	G	1: 171,518,372 (GRCm38)	F271L	possibly damaging	Het
Klra7	C	A	6: 130,229,945 (GRCm38)	L64F	probably benign	Het
Kmt2a	A	T	9: 44,828,811 (GRCm38)	C1878*	probably null	Het
Mia2	C	A	12: 59,154,362 (GRCm38)	Q825K	possibly damaging	Het
Mmp12	C	A	9: 7,355,345 (GRCm38)	P294Q	possibly damaging	Het
Nedd4	A	G	9: 72,731,271 (GRCm38)	N480S	possibly damaging	Het
Or4c12b	A	T	2: 89,816,896 (GRCm38)	E190V	probably benign	Het
Or4e5	C	T	14: 52,490,793 (GRCm38)	R57Q	probably benign	Het
Pax6	T	A	2: 105,685,830 (GRCm38)	M151K	probably benign	Het
Pgm1	A	G	5: 64,112,094 (GRCm38)	Y508C	probably benign	Het
Ptpn20	T	C	14: 33,632,940 (GRCm38)	F324S	probably damaging	Het
Recql	A	G	6: 142,364,434 (GRCm38)		probably null	Het
Rerg	A	G	6: 137,056,386 (GRCm38)	V97A	probably damaging	Het
Rffl	C	A	11: 82,812,779 (GRCm38)	C106F	probably damaging	Het
Scaper	T	G	9: 55,858,504 (GRCm38)	N499T	probably benign	Het
Sfxn3	G	A	19: 45,049,915 (GRCm38)		probably null	Het
Slc36a4	A	G	9: 15,723,578 (GRCm38)	S139G	probably benign	Het
Slco2b1	T	A	7: 99,667,169 (GRCm38)	M385L	probably benign	Het
Smg8	T	C	11: 87,086,546 (GRCm38)	T70A	probably benign	Het
Spats2l	A	T	1: 57,946,177 (GRCm38)	K463M	probably damaging	Het
Thbs4	T	C	13: 92,756,536 (GRCm38)	I715V	probably benign	Het
Tmem234	T	A	4: 129,607,471 (GRCm38)	M113K	possibly damaging	Het
Vmn2r10	T	C	5: 108,995,622 (GRCm38)	I821V	probably null	Het
Vmn2r116	A	T	17: 23,388,831 (GRCm38)	K458*	probably null	Het
Vmn2r76	T	A	7: 86,228,851 (GRCm38)	N446I	possibly damaging	Het
Vmn2r95	T	A	17: 18,440,360 (GRCm38)	Y345N	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGGAAAATGCTCTTTGTGG -3'
(R):5'- AACGGTGATGTTCAGCAGG -3'

Sequencing Primer
(F):5'- GGAAAATGCTCTTTGTGGAAAAG -3'
(R):5'- GGCATGCTAATATACCTGGAAAC -3'

Posted On

2018-07-23