Mutagenetix > Incidental Mutations

Incidental Mutation 'R7250:Hfm1'

563820

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106904331 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 300 (I300V)

Ref Sequence

ENSEMBL: ENSMUSP00000142727 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112690
AA Change: I300V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: I300V

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: I300V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: I300V

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
AA Change: I300V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410
AA Change: I300V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 78,370,705	M345I	probably benign	Het
Actl7b	T	A	4: 56,741,035	M108L	probably benign	Het
Adgrf3	T	A	5: 30,195,682	I934L	probably damaging	Het
Adprm	A	G	11: 67,041,624	V153A	probably benign	Het
Aif1l	G	A	2: 31,969,752	V109M	probably damaging	Het
Asphd1	T	A	7: 126,946,770	E307V	probably damaging	Het
Ate1	T	A	7: 130,519,971		probably benign	Het
BC048403	T	C	10: 121,745,471	S126P	possibly damaging	Het
BC067074	T	G	13: 113,318,815	I465R		Het
Borcs7	A	G	19: 46,699,608	H64R	probably damaging	Het
C1qtnf1	A	G	11: 118,448,350	*282W	probably null	Het
Cacna1c	A	G	6: 118,598,005	C1985R		Het
Cacna1c	A	T	6: 118,696,451	V647E		Het
Cacna1d	A	G	14: 30,075,151	S1497P	probably damaging	Het
Cacna1e	T	A	1: 154,700,489	I133F	possibly damaging	Het
Ccdc63	A	T	5: 122,122,843	L206H	probably damaging	Het
Ccdc84	A	G	9: 44,412,451		probably null	Het
D430041D05Rik	T	C	2: 104,256,616	T672A	possibly damaging	Het
D630045J12Rik	G	T	6: 38,142,611	T1732K	possibly damaging	Het
D930020B18Rik	T	C	10: 121,671,831	I158T	probably damaging	Het
Ddx52	G	A	11: 83,944,566	G106D	probably benign	Het
Dock2	A	G	11: 34,695,205	V550A	probably benign	Het
Dock2	C	T	11: 34,695,293	D521N	probably damaging	Het
F13b	T	C	1: 139,516,489		probably null	Het
Fchsd2	A	G	7: 101,259,685	K431R	possibly damaging	Het
Fez1	C	T	9: 36,867,794	R256C	probably damaging	Het
Gjd4	T	A	18: 9,280,391	Q229L	probably benign	Het
Gpr45	T	A	1: 43,032,371	I58N	probably damaging	Het
Gstm1	T	A	3: 108,016,393	I99F	probably damaging	Het
Gtpbp8	T	A	16: 44,743,862	T149S	probably damaging	Het
H2-Ab1	A	G	17: 34,267,507	D180G	probably damaging	Het
Hdhd5	A	G	6: 120,517,055	I188T	possibly damaging	Het
Hnrnpr	T	G	4: 136,332,435	D283E	probably benign	Het
Hsp90b1	T	C	10: 86,691,708	E768G	unknown	Het
Kcna4	C	A	2: 107,296,318	Q466K	possibly damaging	Het
Kcnk6	A	G	7: 29,232,194	L97P	probably benign	Het
Kdelc2	C	T	9: 53,390,521	Q158*	probably null	Het
Klf5	A	G	14: 99,299,019	S9G	probably benign	Het
Kmt2c	C	A	5: 25,299,491	K3606N	probably damaging	Het
Kmt2c	T	C	5: 25,309,807	T3013A	probably benign	Het
Lancl1	A	G	1: 67,009,299	Y207H	possibly damaging	Het
Lipe	G	C	7: 25,388,660		probably benign	Het
Lrrc66	T	A	5: 73,610,881	H239L	probably benign	Het
Ltbp2	C	T	12: 84,787,392	W1441*	probably null	Het
Man2a1	T	C	17: 64,636,588	S213P	probably benign	Het
Mapre2	C	T	18: 23,858,062	A171V	possibly damaging	Het
Mdn1	T	A	4: 32,695,427	D1155E	probably damaging	Het
Mki67	T	C	7: 135,699,324	D1327G	possibly damaging	Het
Mx2	T	C	16: 97,547,464	I279T	probably damaging	Het
Myo5c	A	G	9: 75,262,215	T441A	probably damaging	Het
Nlrp9a	T	G	7: 26,558,718	V587G	possibly damaging	Het
Npas2	A	T	1: 39,338,107	T517S	probably damaging	Het
Npy1r	T	C	8: 66,705,060	S341P	probably benign	Het
Ntm	A	G	9: 29,411,692	W11R	probably benign	Het
Nxpe2	A	T	9: 48,326,796	I53N	possibly damaging	Het
Olfr456	A	G	6: 42,486,755	V146A	probably benign	Het
Olfr655	A	T	7: 104,596,531	Y217N	probably damaging	Het
Olfr981	T	A	9: 40,022,754	Y120*	probably null	Het
Onecut2	T	C	18: 64,386,440	F443L	probably benign	Het
Parp2	T	A	14: 50,817,344	V248E	probably benign	Het
Pcdh12	C	A	18: 38,281,976	V699L	probably benign	Het
Pja2	G	A	17: 64,309,456	P148L	probably benign	Het
Ppip5k2	T	G	1: 97,745,462	D415A	probably benign	Het
Prss47	A	G	13: 65,052,541	S74P	probably benign	Het
Ptprg	G	T	14: 12,166,767	M723I	probably benign	Het
Qsox2	A	T	2: 26,228,432	I109N	probably damaging	Het
Ranbp3l	A	G	15: 9,011,980	E217G	probably benign	Het
Rgl2	C	T	17: 33,933,429	R367W	probably damaging	Het
Rgs12	T	A	5: 34,965,497	F208Y	probably damaging	Het
Rin3	C	T	12: 102,368,634	T268I	unknown	Het
Rttn	T	A	18: 88,989,523	D427E	probably benign	Het
Samd13	G	A	3: 146,646,324	P91S	probably benign	Het
Samd9l	T	C	6: 3,374,201	D1020G	possibly damaging	Het
Sec62	T	G	3: 30,812,347	L201V	possibly damaging	Het
Setdb1	C	T	3: 95,354,541		probably null	Het
Sf3a3	A	T	4: 124,722,915	T197S	probably benign	Het
Slc20a1	A	T	2: 129,209,924	I618F	possibly damaging	Het
Slc38a3	A	T	9: 107,656,666	M186K	probably benign	Het
Slc39a13	T	C	2: 91,063,158	T319A	probably benign	Het
Slc44a4	T	C	17: 34,918,544		probably null	Het
St3gal1	A	C	15: 67,106,729	D314E	possibly damaging	Het
Suclg1	A	G	6: 73,271,091	N265S	probably benign	Het
Sult2b1	A	T	7: 45,783,937	V2D	unknown	Het
Supv3l1	T	A	10: 62,445,067	I182F	probably damaging	Het
Tcp11l2	T	C	10: 84,587,241		probably null	Het
Tenm2	C	A	11: 36,072,798	L935F	probably damaging	Het
Tnks	T	A	8: 34,851,758	I790F	probably damaging	Het
Top2b	C	T	14: 16,420,411	T1274I	probably benign	Het
Tpi1	A	T	6: 124,812,478	I178N	probably damaging	Het
Trav9d-1	A	T	14: 52,792,696	S86C	probably damaging	Het
Treml2	A	G	17: 48,309,127	E265G	probably benign	Het
Trpm7	A	T	2: 126,826,765	S744T	possibly damaging	Het
Usp33	T	A	3: 152,392,362	L909*	probably null	Het
Vcan	A	G	13: 89,721,686	I210T	probably damaging	Het
Vcan	A	T	13: 89,731,457		probably null	Het
Vsig10l	A	T	7: 43,463,675	D17V	probably benign	Het
Zbtb7b	T	A	3: 89,379,669	T498S	probably benign	Het
Zfp366	T	A	13: 99,229,568	H412Q	probably damaging	Het
Zfp53	C	A	17: 21,509,578	D624E	probably damaging	Het
Zfp827	A	T	8: 79,190,092	D432V		Het
Zic1	T	C	9: 91,364,975	T15A	probably damaging	Het
Zswim8	T	C	14: 20,719,968	C1368R	probably damaging	Het

Other mutations in Hfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Hfm1	APN	5	106902130	missense	possibly damaging	0.70
IGL01295:Hfm1	APN	5	106917606	missense	possibly damaging	0.46
IGL01725:Hfm1	APN	5	106917379	missense	probably benign	0.00
IGL01758:Hfm1	APN	5	106904793	missense	probably damaging	0.99
IGL01911:Hfm1	APN	5	106911544	missense	possibly damaging	0.92
IGL02337:Hfm1	APN	5	106904267	missense	possibly damaging	0.81
IGL02472:Hfm1	APN	5	106873928	splice site	probably benign
IGL02496:Hfm1	APN	5	106901761	missense	probably benign	0.00
IGL02545:Hfm1	APN	5	106895287	missense	probably damaging	1.00
IGL02584:Hfm1	APN	5	106878662	splice site	probably null
IGL02728:Hfm1	APN	5	106878823	missense	probably benign	0.13
IGL02881:Hfm1	APN	5	106874252	missense	probably damaging	1.00
IGL03108:Hfm1	APN	5	106895934	unclassified	probably benign
IGL03351:Hfm1	APN	5	106911575	nonsense	probably null
IGL03353:Hfm1	APN	5	106856929	missense	probably damaging	0.99
R0024:Hfm1	UTSW	5	106856924	missense	probably benign	0.41
R0024:Hfm1	UTSW	5	106856924	missense	probably benign	0.41
R0094:Hfm1	UTSW	5	106917478	missense	probably benign
R0633:Hfm1	UTSW	5	106917601	missense	possibly damaging	0.56
R0644:Hfm1	UTSW	5	106898256	critical splice donor site	probably null
R1078:Hfm1	UTSW	5	106878830	missense	probably damaging	1.00
R1120:Hfm1	UTSW	5	106904218	splice site	probably benign
R1166:Hfm1	UTSW	5	106911411	missense	probably benign	0.00
R1242:Hfm1	UTSW	5	106874901	missense	probably damaging	0.99
R1414:Hfm1	UTSW	5	106872353	missense	probably benign	0.01
R1450:Hfm1	UTSW	5	106918458	missense	probably damaging	0.99
R1529:Hfm1	UTSW	5	106853123	missense	probably benign	0.00
R1622:Hfm1	UTSW	5	106893523	missense	possibly damaging	0.58
R1710:Hfm1	UTSW	5	106880514	missense	probably damaging	1.00
R1710:Hfm1	UTSW	5	106896003	missense	probably damaging	0.96
R1757:Hfm1	UTSW	5	106880360	splice site	probably null
R1856:Hfm1	UTSW	5	106847676	missense	probably benign	0.00
R1984:Hfm1	UTSW	5	106898576	missense	probably damaging	0.98
R1985:Hfm1	UTSW	5	106898576	missense	probably damaging	0.98
R2040:Hfm1	UTSW	5	106901818	missense	probably damaging	1.00
R2122:Hfm1	UTSW	5	106896255	missense	probably damaging	1.00
R2426:Hfm1	UTSW	5	106847653	splice site	probably null
R2474:Hfm1	UTSW	5	106872416	missense	possibly damaging	0.81
R2926:Hfm1	UTSW	5	106874282	nonsense	probably null
R2944:Hfm1	UTSW	5	106872330	missense	probably damaging	1.00
R3705:Hfm1	UTSW	5	106892839	unclassified	probably benign
R4256:Hfm1	UTSW	5	106904797	missense	possibly damaging	0.83
R4455:Hfm1	UTSW	5	106886508	splice site	probably null
R4538:Hfm1	UTSW	5	106874890	missense	possibly damaging	0.47
R4540:Hfm1	UTSW	5	106874221	nonsense	probably null
R4591:Hfm1	UTSW	5	106847667	missense	probably benign	0.08
R4745:Hfm1	UTSW	5	106901843	missense	possibly damaging	0.87
R4747:Hfm1	UTSW	5	106917523	missense	probably benign
R4765:Hfm1	UTSW	5	106842539	missense	probably benign	0.21
R4821:Hfm1	UTSW	5	106854740	critical splice donor site	probably null
R4842:Hfm1	UTSW	5	106892751	missense	probably damaging	1.00
R4944:Hfm1	UTSW	5	106874213	missense	possibly damaging	0.46
R5093:Hfm1	UTSW	5	106901731	missense	probably damaging	1.00
R5399:Hfm1	UTSW	5	106917562	missense	possibly damaging	0.91
R5414:Hfm1	UTSW	5	106902076	missense	probably damaging	1.00
R5436:Hfm1	UTSW	5	106892772	missense	possibly damaging	0.61
R5459:Hfm1	UTSW	5	106904763	missense	probably damaging	1.00
R5485:Hfm1	UTSW	5	106847662	critical splice donor site	probably null
R5585:Hfm1	UTSW	5	106911439	missense	probably benign	0.05
R5631:Hfm1	UTSW	5	106904763	missense	probably damaging	1.00
R5705:Hfm1	UTSW	5	106911453	missense	probably benign	0.21
R5804:Hfm1	UTSW	5	106878589	splice site	probably null
R5959:Hfm1	UTSW	5	106874917	missense	probably damaging	1.00
R6046:Hfm1	UTSW	5	106898643	splice site	probably null
R6191:Hfm1	UTSW	5	106886553	missense	possibly damaging	0.95
R6345:Hfm1	UTSW	5	106841638	missense	probably benign
R6580:Hfm1	UTSW	5	106847709	missense	probably benign	0.00
R6651:Hfm1	UTSW	5	106847687	missense	probably benign	0.00
R6761:Hfm1	UTSW	5	106895279	missense	probably damaging	1.00
R6835:Hfm1	UTSW	5	106878815	nonsense	probably null
R6891:Hfm1	UTSW	5	106917374	missense	possibly damaging	0.49
R6924:Hfm1	UTSW	5	106850410	splice site	probably null
R6980:Hfm1	UTSW	5	106880477	missense	probably benign	0.31
R7054:Hfm1	UTSW	5	106896043	missense	probably benign	0.01
R7058:Hfm1	UTSW	5	106911440	missense	probably benign	0.04
R7189:Hfm1	UTSW	5	106901703	critical splice donor site	probably null
R7376:Hfm1	UTSW	5	106895218	missense	possibly damaging	0.95
R7577:Hfm1	UTSW	5	106896043	missense	probably benign	0.01
R7636:Hfm1	UTSW	5	106917466	missense	probably benign	0.02
R7639:Hfm1	UTSW	5	106889925	missense	probably benign	0.03
R7639:Hfm1	UTSW	5	106898475	missense	possibly damaging	0.46
R7763:Hfm1	UTSW	5	106881861	missense	probably damaging	1.00
R7828:Hfm1	UTSW	5	106881791	critical splice donor site	probably null
R7905:Hfm1	UTSW	5	106898553	missense	probably damaging	1.00
R8160:Hfm1	UTSW	5	106896033	missense	probably null	0.00
R8477:Hfm1	UTSW	5	106881818	missense	probably benign	0.01
R8739:Hfm1	UTSW	5	106898505	missense	probably damaging	0.96
Z1177:Hfm1	UTSW	5	106871820	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCAGTGGTAAAGTGCTGTTTACAG -3'
(R):5'- CTAGAGCAGGACTACACGTAGG -3'

Sequencing Primer
(F):5'- CTGTTTACAGATTTAGTCAGAGCACC -3'
(R):5'- GAATCAGAGAGGTCAACATGCTTG -3'

Posted On

2019-06-26