Mutagenetix > Incidental Mutation

Incidental Mutation 'R4256:Hfm1'

321815

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

041069-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R4256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106904797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 273 (I273M)

Ref Sequence

ENSEMBL: ENSMUSP00000142727 (fasta)

Gene Model

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

AlphaFold

D3Z4R1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112690
AA Change: I273M

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: I273M

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

possibly damaging
Transcript: ENSMUST00000117588
AA Change: I273M

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: I273M

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

possibly damaging
Transcript: ENSMUST00000200249
AA Change: I273M

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410
AA Change: I273M

Domain	Start	End	E-Value	Type
Pfam:ResIII	260	410	9.9e-7	PFAM
Pfam:DEAD	281	410	1.5e-19	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (41/44)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
5730559C18Rik	G	T	1: 136,214,350	N670K	probably benign	Het
Arsi	T	C	18: 60,917,316	W424R	probably damaging	Het
Atad2	A	G	15: 58,116,856	S411P	probably damaging	Het
Cdhr2	G	A	13: 54,714,005	V72I	probably damaging	Het
Celf4	T	C	18: 25,491,201	I414V	probably damaging	Het
Cfap43	G	A	19: 47,782,405	T689I	probably benign	Het
Cpne9	C	T	6: 113,283,023		probably benign	Het
Cyp3a11	A	T	5: 145,869,195	S121T	probably benign	Het
Dip2c	C	A	13: 9,609,056	Q864K	probably damaging	Het
Fbxo3	A	G	2: 104,051,165	T281A	probably damaging	Het
Gm5148	T	A	3: 37,714,609	H154L	unknown	Het
Gm906	A	C	13: 50,250,105	S54A	probably benign	Het
Gsdma2	T	A	11: 98,651,932		probably null	Het
Hspa4l	A	G	3: 40,746,003	E14G	probably benign	Het
Lgals12	T	G	19: 7,606,716	E5D	possibly damaging	Het
Lsg1	T	G	16: 30,573,243	I237L	probably benign	Het
Mettl14	T	C	3: 123,383,605	E49G	probably damaging	Het
Nbeal1	A	G	1: 60,330,948	I2675V	probably benign	Het
Olfr1272	A	T	2: 90,282,062	V171E	probably damaging	Het
Olfr1391	A	T	11: 49,327,477	Q22L	probably benign	Het
Olfr178	T	G	16: 58,889,780	S147R	probably benign	Het
Padi1	A	T	4: 140,814,778	L611Q	probably damaging	Het
Pcdhac2	A	G	18: 37,144,711	D248G	probably damaging	Het
Plekhm1	C	A	11: 103,370,934	R940L	probably damaging	Het
Rasa3	A	G	8: 13,614,532		probably null	Het
Rspo2	C	A	15: 43,075,911	R161L	probably benign	Het
Sacs	A	G	14: 61,206,337	Y1944C	probably damaging	Het
Slc7a10	G	T	7: 35,198,715	M297I	probably damaging	Het
Ssh2	A	G	11: 77,408,183	T112A	possibly damaging	Het
Ttc7	A	T	17: 87,321,401		probably null	Het
Vmn1r64	T	A	7: 5,883,896	H216L	probably benign	Het
Vmn2r112	A	G	17: 22,618,412	K618R	probably damaging	Het
Vmp1	T	A	11: 86,661,188	I117L	probably benign	Het
Vsnl1	A	T	12: 11,332,055	Y108*	probably null	Het
Wdr31	A	G	4: 62,457,438		probably null	Het
Zfp329	A	G	7: 12,807,913	V284A	probably benign	Het
Zfp551	G	A	7: 12,416,391	H364Y	possibly 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
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
R7250:Hfm1	UTSW	5	106904331	missense	probably benign	0.00
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
R8968:Hfm1	UTSW	5	106917573	missense	probably benign	0.00
R9072:Hfm1	UTSW	5	106898280	missense	probably benign	0.04
R9073:Hfm1	UTSW	5	106898280	missense	probably benign	0.04
R9152:Hfm1	UTSW	5	106841745	missense	probably benign	0.01
R9234:Hfm1	UTSW	5	106893468	missense	probably benign
R9244:Hfm1	UTSW	5	106874900	missense	probably damaging	0.96
R9576:Hfm1	UTSW	5	106874072	missense	probably benign	0.00
R9649:Hfm1	UTSW	5	106918463	missense	possibly damaging	0.82
R9743:Hfm1	UTSW	5	106874259	missense	possibly damaging	0.55
R9782:Hfm1	UTSW	5	106874030	missense	probably benign	0.38
R9789:Hfm1	UTSW	5	106917480	missense	probably benign	0.00
Z1177:Hfm1	UTSW	5	106871820	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGGCCCTAAGACAAAGTCATC -3'
(R):5'- TGCCATGTCTCCATATATTCAGATC -3'

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

Posted On

2015-06-20