Mutagenetix > Incidental Mutation

Incidental Mutation 'R5631:Hfm1'

439848

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

043282-MU

Accession Numbers

Essential gene?

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

Stock #

R5631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106904763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 285 (S285P)

Ref Sequence

ENSEMBL: ENSMUSP00000142727 (fasta)

Gene Model

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

AlphaFold

D3Z4R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000112690
AA Change: S285P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: S285P

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 damaging
Transcript: ENSMUST00000117588
AA Change: S285P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: S285P

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 damaging
Transcript: ENSMUST00000200249
AA Change: S285P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410
AA Change: S285P

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,176,764 (GRCm38)	V567L	possibly damaging	Het
Abraxas1	T	G	5: 100,817,974 (GRCm38)	Y68S	probably damaging	Het
Adamtsl1	C	T	4: 86,276,923 (GRCm38)	Q543*	probably null	Het
Anapc1	T	C	2: 128,657,217 (GRCm38)	Y845C	possibly damaging	Het
Ap4m1	A	G	5: 138,174,789 (GRCm38)	*98W	probably null	Het
Ccdc130	G	T	8: 84,263,881 (GRCm38)	Q41K	probably damaging	Het
Ccdc144b	G	C	3: 36,046,877 (GRCm38)	Q49E	probably damaging	Het
Clock	G	A	5: 76,230,338 (GRCm38)	P572S	probably benign	Het
Cramp1l	T	A	17: 24,985,603 (GRCm38)	T275S	possibly damaging	Het
Dock3	T	C	9: 106,955,699 (GRCm38)	S1038G	probably benign	Het
Fancm	T	C	12: 65,113,843 (GRCm38)	V1397A	probably damaging	Het
Fn1	T	C	1: 71,590,196 (GRCm38)	T2203A	probably damaging	Het
Heatr5a	T	A	12: 51,955,527 (GRCm38)	I209F	probably benign	Het
Hpx	A	T	7: 105,595,601 (GRCm38)	C126S	probably damaging	Het
Ipo4	C	T	14: 55,633,381 (GRCm38)	V265I	probably benign	Het
Ipo4	A	G	14: 55,632,069 (GRCm38)	V378A	probably damaging	Het
Kcnv1	T	A	15: 45,109,357 (GRCm38)	T377S	probably damaging	Het
Kmt2a	A	T	9: 44,820,688 (GRCm38)		probably benign	Het
Ldlrad3	T	C	2: 102,069,956 (GRCm38)	D67G	probably damaging	Het
Lrrc71	T	A	3: 87,739,149 (GRCm38)	M535L	probably benign	Het
Mfhas1	G	A	8: 35,588,419 (GRCm38)	R16Q	probably damaging	Het
Mrc1	A	T	2: 14,328,572 (GRCm38)	K1355*	probably null	Het
Mrgprf	A	G	7: 145,308,546 (GRCm38)	I282V	probably benign	Het
Mvb12b	G	T	2: 33,827,703 (GRCm38)	P142Q	probably damaging	Het
Naip6	T	C	13: 100,300,138 (GRCm38)	I626V	probably benign	Het
Ncoa5	T	C	2: 165,013,121 (GRCm38)	D27G	possibly damaging	Het
Nrap	T	G	19: 56,354,121 (GRCm38)	E780A	probably benign	Het
Olfr1133	A	T	2: 87,645,608 (GRCm38)	S172T	probably benign	Het
Oplah	T	C	15: 76,305,241 (GRCm38)	I228V	probably benign	Het
Pkdrej	T	C	15: 85,820,437 (GRCm38)	M433V	probably benign	Het
Polr3h	T	A	15: 81,925,912 (GRCm38)		probably benign	Het
Ppfibp1	T	C	6: 146,996,860 (GRCm38)	Y105H	probably damaging	Het
Rplp2	A	C	7: 141,451,259 (GRCm38)		probably benign	Het
Rps6ka4	T	C	19: 6,830,977 (GRCm38)		probably benign	Het
Rspry1	A	T	8: 94,629,078 (GRCm38)	M1L	possibly damaging	Het
Runx1	C	A	16: 92,695,563 (GRCm38)	R64L	possibly damaging	Het
Secisbp2l	C	T	2: 125,740,737 (GRCm38)	G933D	possibly damaging	Het
Slc9a5	C	T	8: 105,349,509 (GRCm38)	H45Y	possibly damaging	Het
Smc4	T	C	3: 69,030,312 (GRCm38)	I890T	probably benign	Het
Smtnl1	T	C	2: 84,818,754 (GRCm38)	E52G	probably benign	Het
Stag3	T	A	5: 138,295,877 (GRCm38)	I319N	probably damaging	Het
Stt3b	G	A	9: 115,254,845 (GRCm38)	T421I	probably benign	Het
Thumpd1	A	G	7: 119,720,602 (GRCm38)	L47P	probably damaging	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Top2b	T	C	14: 16,409,882 (GRCm38)	Y850H	probably damaging	Het
Trim34a	A	T	7: 104,248,739 (GRCm38)	E158V	probably damaging	Het
Trp53i13	C	A	11: 77,509,593 (GRCm38)		probably null	Het
Ugt3a2	T	C	15: 9,361,885 (GRCm38)	V249A	probably damaging	Het
Vmn1r128	G	A	7: 21,349,375 (GRCm38)	M1I	probably null	Het
Yars	T	G	4: 129,209,749 (GRCm38)	L297R	probably damaging	Het
Zkscan3	A	G	13: 21,394,533 (GRCm38)	L176P	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
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

Predicted Primers

PCR Primer
(F):5'- AAAGTCATCCCTTTACCCTTCAATG -3'
(R):5'- CTGATTGCCATGTCTCCATATATTCAG -3'

Sequencing Primer
(F):5'- ATCCCTTTACCCTTCAATGAAATTC -3'
(R):5'- TTGAGCCACCATGTGAGTAC -3'

Posted On

2016-11-08