Mutagenetix > Incidental Mutation

Incidental Mutation 'R5705:Hfm1'

451915

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

043330-MU

Accession Numbers

Essential gene?

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

Stock #

R5705 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106911453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 234 (I234M)

Ref Sequence

ENSEMBL: ENSMUSP00000142727 (fasta)

Gene Model

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

AlphaFold

D3Z4R1

Predicted Effect

probably benign
Transcript: ENSMUST00000112690
AA Change: I234M

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: I234M

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: I234M

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: I234M

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 benign
Transcript: ENSMUST00000200249
AA Change: I234M

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410
AA Change: I234M

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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
Abca7	T	C	10: 80,015,442 (GRCm38)	V2163A	probably benign	Het
Abcg3	G	A	5: 104,968,170 (GRCm38)	A266V	probably damaging	Het
Ago1	T	C	4: 126,448,794 (GRCm38)	I519V	probably benign	Het
Arhgap4	G	A	X: 73,906,817 (GRCm38)	R43W	probably damaging	Het
Aurkb	T	A	11: 69,048,815 (GRCm38)	L213I	possibly damaging	Het
Bod1l	T	A	5: 41,817,002 (GRCm38)	Q2323L	probably benign	Het
Calhm5	A	T	10: 34,095,993 (GRCm38)	C149S	probably damaging	Het
Ccdc17	C	T	4: 116,596,869 (GRCm38)	T28I	probably benign	Het
Ccdc39	T	C	3: 33,816,937 (GRCm38)	E630G	probably damaging	Het
Cnih4	A	G	1: 181,153,735 (GRCm38)	I24V	probably benign	Het
Ctse	C	A	1: 131,664,374 (GRCm38)	T146K	possibly damaging	Het
Ctsr	A	G	13: 61,161,264 (GRCm38)	F226L	probably damaging	Het
Cyp2a22	T	C	7: 26,939,215 (GRCm38)	N49D	probably benign	Het
Defb23	C	T	2: 152,459,284 (GRCm38)	A123T	probably benign	Het
Dtx2	C	A	5: 136,010,295 (GRCm38)	D69E	probably damaging	Het
Eps8l1	T	C	7: 4,470,035 (GRCm38)	V91A	probably benign	Het
Eps8l3	C	A	3: 107,891,264 (GRCm38)	Q489K	probably benign	Het
Esyt3	A	G	9: 99,318,207 (GRCm38)	S645P	probably benign	Het
Fam161a	T	A	11: 23,028,869 (GRCm38)	M472K	unknown	Het
Glp2r	A	G	11: 67,709,739 (GRCm38)	V428A	probably benign	Het
Gnl1	G	A	17: 35,981,600 (GRCm38)	V191I	probably benign	Het
Hlx	T	C	1: 184,730,865 (GRCm38)	T197A	probably benign	Het
Hs3st2	T	C	7: 121,393,082 (GRCm38)	L85P	probably damaging	Het
Igsf9	T	C	1: 172,494,771 (GRCm38)	V511A	possibly damaging	Het
Insyn2b	A	G	11: 34,404,349 (GRCm38)	Y473C	probably damaging	Het
Kcnma1	A	T	14: 24,003,771 (GRCm38)	C54S	possibly damaging	Het
Klhdc4	A	G	8: 121,804,993 (GRCm38)	V181A	probably benign	Het
Ldb3	T	C	14: 34,577,029 (GRCm38)	M213V	probably null	Het
Mertk	C	A	2: 128,771,401 (GRCm38)	Q446K	probably benign	Het
Ndufs1	A	G	1: 63,147,158 (GRCm38)	V46A	probably benign	Het
Neurod4	A	G	10: 130,271,402 (GRCm38)	M1T	probably null	Het
Nlrc5	T	A	8: 94,475,757 (GRCm38)	C162S	probably benign	Het
Pald1	A	G	10: 61,323,297 (GRCm38)	I785T	possibly damaging	Het
Pcmt1	T	C	10: 7,638,190 (GRCm38)	I224M	possibly damaging	Het
Pisd	C	T	5: 32,737,363 (GRCm38)	R533H	probably benign	Het
Plcxd3	C	A	15: 4,517,194 (GRCm38)	Q227K	probably benign	Het
Polr1b	A	T	2: 129,105,351 (GRCm38)	K199*	probably null	Het
Ppp1r10	T	C	17: 35,929,489 (GRCm38)	V557A	probably damaging	Het
Ralgapa2	A	G	2: 146,449,273 (GRCm38)	Y248H	probably damaging	Het
Rsrp1	T	C	4: 134,924,020 (GRCm38)	S32P	unknown	Het
Setdb2	T	G	14: 59,423,365 (GRCm38)	S110R	possibly damaging	Het
Srcin1	A	G	11: 97,548,951 (GRCm38)	C152R	probably benign	Het
Syk	A	G	13: 52,611,047 (GRCm38)	N70S	probably benign	Het
Tlr4	T	A	4: 66,833,980 (GRCm38)	D59E	probably damaging	Het
Tm9sf4	T	A	2: 153,182,458 (GRCm38)	I67N	probably benign	Het
Trim30b	T	A	7: 104,357,577 (GRCm38)	Y24F	probably damaging	Het
Tsga13	A	G	6: 30,900,016 (GRCm38)	S189P	probably damaging	Het
Tspan33	A	G	6: 29,717,233 (GRCm38)	D210G	probably benign	Het
Use1	G	T	8: 71,369,687 (GRCm38)	R278L	probably damaging	Het
Wwc1	T	C	11: 35,876,596 (GRCm38)	N403D	probably damaging	Het
Zfp263	C	T	16: 3,746,454 (GRCm38)	P203S	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
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'- AGAACCTAAGCCATTTGGGG -3'
(R):5'- ACTGTGACTATGCTGATGGAAG -3'

Sequencing Primer
(F):5'- CACTTTCCATAAAAAGCTCCAATAAC -3'
(R):5'- GTGACTATGCTGATGGAAGTTTAAAC -3'

Posted On

2017-01-03