Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Hfm1'

85724

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

039164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106988058-107074187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107026696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 140 (F140I)

Gene Model

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

AlphaFold

D3Z4R1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112690
AA Change: F883I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: F883I

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: F883I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: F883I

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

probably damaging
Transcript: ENSMUST00000155171
AA Change: F140I

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

SMART Domains

Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410
AA Change: F140I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183903

Meta Mutation Damage Score

0.2196

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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
9130230L23Rik	T	C	5: 66,145,698 (GRCm39)	T138A	unknown	Het
Abi3bp	T	C	16: 56,474,444 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,728,348 (GRCm39)	M493L	probably benign	Het
Bace2	C	T	16: 97,158,060 (GRCm39)	A20V	unknown	Het
Bms1	T	C	6: 118,382,182 (GRCm39)	D452G	probably benign	Het
Ccdc187	T	C	2: 26,184,389 (GRCm39)	T3A	probably damaging	Het
Ctu2	T	C	8: 123,208,238 (GRCm39)	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,534,966 (GRCm39)	K60E	probably benign	Het
Cyp4f13	T	C	17: 33,144,542 (GRCm39)	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,637,023 (GRCm39)	T485M	probably damaging	Het
Dsp	C	T	13: 38,367,082 (GRCm39)		probably benign	Het
Ell2	T	C	13: 75,894,538 (GRCm39)		probably benign	Het
Eml2	A	T	7: 18,913,687 (GRCm39)	Y168F	probably benign	Het
Entrep1	T	A	19: 23,950,939 (GRCm39)	R547S	probably benign	Het
Ep400	C	T	5: 110,883,388 (GRCm39)		probably benign	Het
Ercc4	C	A	16: 12,948,061 (GRCm39)	A336D	probably benign	Het
Fat4	T	C	3: 39,037,235 (GRCm39)	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833 (GRCm39)	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,503,877 (GRCm39)	W108R	probably damaging	Het
Gtse1	C	T	15: 85,746,508 (GRCm39)	P108L	probably damaging	Het
Hyal2	T	A	9: 107,449,445 (GRCm39)	H400Q	probably benign	Het
Igfn1	A	G	1: 135,902,585 (GRCm39)	Y371H	probably damaging	Het
Il22b	T	G	10: 118,126,056 (GRCm39)	*180C	probably null	Het
Kdm2b	T	C	5: 123,099,604 (GRCm39)	T118A	possibly damaging	Het
Lama5	A	T	2: 179,821,557 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmo7	C	T	14: 102,157,910 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,388,457 (GRCm39)	P2323T	unknown	Het
Lrrc38	A	G	4: 143,077,088 (GRCm39)	Y117C	probably benign	Het
Myo1e	T	C	9: 70,291,281 (GRCm39)	V1024A	probably benign	Het
Myrfl	T	C	10: 116,612,637 (GRCm39)	N904S	possibly damaging	Het
Or12d13	T	A	17: 37,647,917 (GRCm39)	I69F	probably damaging	Het
Or4k47	T	C	2: 111,451,690 (GRCm39)	H243R	probably damaging	Het
Or9g4b	T	C	2: 85,616,437 (GRCm39)	V194A	possibly damaging	Het
Pld4	A	T	12: 112,729,876 (GRCm39)	I53F	probably benign	Het
Plekhg4	T	A	8: 106,108,309 (GRCm39)	C1117*	probably null	Het
Prss39	G	A	1: 34,541,167 (GRCm39)	E224K	probably benign	Het
Psme1	G	T	14: 55,818,107 (GRCm39)	G149V	probably damaging	Het
Sanbr	A	C	11: 23,561,762 (GRCm39)	I358S	probably benign	Het
Soat2	T	A	15: 102,061,573 (GRCm39)		probably null	Het
Stab2	C	T	10: 86,742,997 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,731,627 (GRCm39)	T127A	probably benign	Het
Tcp1	T	C	17: 13,142,091 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,899,434 (GRCm39)		probably benign	Het
Tmf1	T	C	6: 97,150,261 (GRCm39)	D482G	probably damaging	Het
Trim66	G	T	7: 109,071,526 (GRCm39)	P591H	probably damaging	Het
Umodl1	T	C	17: 31,178,347 (GRCm39)	S108P	probably benign	Het
Unc79	T	G	12: 103,041,112 (GRCm39)	M715R	probably benign	Het
Usp34	C	A	11: 23,383,175 (GRCm39)		probably benign	Het
Utrn	T	G	10: 12,331,310 (GRCm39)		probably null	Het
Zfp830	T	C	11: 82,656,165 (GRCm39)		probably null	Het

Other mutations in Hfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Hfm1	APN	5	107,049,996 (GRCm39)	missense	possibly damaging	0.70
IGL01295:Hfm1	APN	5	107,065,472 (GRCm39)	missense	possibly damaging	0.46
IGL01725:Hfm1	APN	5	107,065,245 (GRCm39)	missense	probably benign	0.00
IGL01758:Hfm1	APN	5	107,052,659 (GRCm39)	missense	probably damaging	0.99
IGL01911:Hfm1	APN	5	107,059,410 (GRCm39)	missense	possibly damaging	0.92
IGL02337:Hfm1	APN	5	107,052,133 (GRCm39)	missense	possibly damaging	0.81
IGL02472:Hfm1	APN	5	107,021,794 (GRCm39)	splice site	probably benign
IGL02496:Hfm1	APN	5	107,049,627 (GRCm39)	missense	probably benign	0.00
IGL02545:Hfm1	APN	5	107,043,153 (GRCm39)	missense	probably damaging	1.00
IGL02584:Hfm1	APN	5	107,026,528 (GRCm39)	splice site	probably null
IGL02728:Hfm1	APN	5	107,026,689 (GRCm39)	missense	probably benign	0.13
IGL02881:Hfm1	APN	5	107,022,118 (GRCm39)	missense	probably damaging	1.00
IGL03108:Hfm1	APN	5	107,043,800 (GRCm39)	unclassified	probably benign
IGL03351:Hfm1	APN	5	107,059,441 (GRCm39)	nonsense	probably null
IGL03353:Hfm1	APN	5	107,004,795 (GRCm39)	missense	probably damaging	0.99
R0024:Hfm1	UTSW	5	107,004,790 (GRCm39)	missense	probably benign	0.41
R0024:Hfm1	UTSW	5	107,004,790 (GRCm39)	missense	probably benign	0.41
R0094:Hfm1	UTSW	5	107,065,344 (GRCm39)	missense	probably benign
R0633:Hfm1	UTSW	5	107,065,467 (GRCm39)	missense	possibly damaging	0.56
R0644:Hfm1	UTSW	5	107,046,122 (GRCm39)	critical splice donor site	probably null
R1120:Hfm1	UTSW	5	107,052,084 (GRCm39)	splice site	probably benign
R1166:Hfm1	UTSW	5	107,059,277 (GRCm39)	missense	probably benign	0.00
R1242:Hfm1	UTSW	5	107,022,767 (GRCm39)	missense	probably damaging	0.99
R1414:Hfm1	UTSW	5	107,020,219 (GRCm39)	missense	probably benign	0.01
R1450:Hfm1	UTSW	5	107,066,324 (GRCm39)	missense	probably damaging	0.99
R1529:Hfm1	UTSW	5	107,000,989 (GRCm39)	missense	probably benign	0.00
R1622:Hfm1	UTSW	5	107,041,389 (GRCm39)	missense	possibly damaging	0.58
R1710:Hfm1	UTSW	5	107,043,869 (GRCm39)	missense	probably damaging	0.96
R1710:Hfm1	UTSW	5	107,028,380 (GRCm39)	missense	probably damaging	1.00
R1757:Hfm1	UTSW	5	107,028,226 (GRCm39)	splice site	probably null
R1856:Hfm1	UTSW	5	106,995,542 (GRCm39)	missense	probably benign	0.00
R1984:Hfm1	UTSW	5	107,046,442 (GRCm39)	missense	probably damaging	0.98
R1985:Hfm1	UTSW	5	107,046,442 (GRCm39)	missense	probably damaging	0.98
R2040:Hfm1	UTSW	5	107,049,684 (GRCm39)	missense	probably damaging	1.00
R2122:Hfm1	UTSW	5	107,044,121 (GRCm39)	missense	probably damaging	1.00
R2426:Hfm1	UTSW	5	106,995,519 (GRCm39)	splice site	probably null
R2474:Hfm1	UTSW	5	107,020,282 (GRCm39)	missense	possibly damaging	0.81
R2926:Hfm1	UTSW	5	107,022,148 (GRCm39)	nonsense	probably null
R2944:Hfm1	UTSW	5	107,020,196 (GRCm39)	missense	probably damaging	1.00
R3705:Hfm1	UTSW	5	107,040,705 (GRCm39)	unclassified	probably benign
R4256:Hfm1	UTSW	5	107,052,663 (GRCm39)	missense	possibly damaging	0.83
R4455:Hfm1	UTSW	5	107,034,374 (GRCm39)	splice site	probably null
R4538:Hfm1	UTSW	5	107,022,756 (GRCm39)	missense	possibly damaging	0.47
R4540:Hfm1	UTSW	5	107,022,087 (GRCm39)	nonsense	probably null
R4591:Hfm1	UTSW	5	106,995,533 (GRCm39)	missense	probably benign	0.08
R4745:Hfm1	UTSW	5	107,049,709 (GRCm39)	missense	possibly damaging	0.87
R4747:Hfm1	UTSW	5	107,065,389 (GRCm39)	missense	probably benign
R4765:Hfm1	UTSW	5	106,990,405 (GRCm39)	missense	probably benign	0.21
R4821:Hfm1	UTSW	5	107,002,606 (GRCm39)	critical splice donor site	probably null
R4842:Hfm1	UTSW	5	107,040,617 (GRCm39)	missense	probably damaging	1.00
R4944:Hfm1	UTSW	5	107,022,079 (GRCm39)	missense	possibly damaging	0.46
R5093:Hfm1	UTSW	5	107,049,597 (GRCm39)	missense	probably damaging	1.00
R5399:Hfm1	UTSW	5	107,065,428 (GRCm39)	missense	possibly damaging	0.91
R5414:Hfm1	UTSW	5	107,049,942 (GRCm39)	missense	probably damaging	1.00
R5436:Hfm1	UTSW	5	107,040,638 (GRCm39)	missense	possibly damaging	0.61
R5459:Hfm1	UTSW	5	107,052,629 (GRCm39)	missense	probably damaging	1.00
R5485:Hfm1	UTSW	5	106,995,528 (GRCm39)	critical splice donor site	probably null
R5585:Hfm1	UTSW	5	107,059,305 (GRCm39)	missense	probably benign	0.05
R5631:Hfm1	UTSW	5	107,052,629 (GRCm39)	missense	probably damaging	1.00
R5705:Hfm1	UTSW	5	107,059,319 (GRCm39)	missense	probably benign	0.21
R5804:Hfm1	UTSW	5	107,026,455 (GRCm39)	splice site	probably null
R5959:Hfm1	UTSW	5	107,022,783 (GRCm39)	missense	probably damaging	1.00
R6046:Hfm1	UTSW	5	107,046,509 (GRCm39)	splice site	probably null
R6191:Hfm1	UTSW	5	107,034,419 (GRCm39)	missense	possibly damaging	0.95
R6345:Hfm1	UTSW	5	106,989,504 (GRCm39)	missense	probably benign
R6580:Hfm1	UTSW	5	106,995,575 (GRCm39)	missense	probably benign	0.00
R6651:Hfm1	UTSW	5	106,995,553 (GRCm39)	missense	probably benign	0.00
R6761:Hfm1	UTSW	5	107,043,145 (GRCm39)	missense	probably damaging	1.00
R6835:Hfm1	UTSW	5	107,026,681 (GRCm39)	nonsense	probably null
R6891:Hfm1	UTSW	5	107,065,240 (GRCm39)	missense	possibly damaging	0.49
R6924:Hfm1	UTSW	5	106,998,276 (GRCm39)	splice site	probably null
R6980:Hfm1	UTSW	5	107,028,343 (GRCm39)	missense	probably benign	0.31
R7054:Hfm1	UTSW	5	107,043,909 (GRCm39)	missense	probably benign	0.01
R7058:Hfm1	UTSW	5	107,059,306 (GRCm39)	missense	probably benign	0.04
R7189:Hfm1	UTSW	5	107,049,569 (GRCm39)	critical splice donor site	probably null
R7250:Hfm1	UTSW	5	107,052,197 (GRCm39)	missense	probably benign	0.00
R7376:Hfm1	UTSW	5	107,043,084 (GRCm39)	missense	possibly damaging	0.95
R7577:Hfm1	UTSW	5	107,043,909 (GRCm39)	missense	probably benign	0.01
R7636:Hfm1	UTSW	5	107,065,332 (GRCm39)	missense	probably benign	0.02
R7639:Hfm1	UTSW	5	107,046,341 (GRCm39)	missense	possibly damaging	0.46
R7639:Hfm1	UTSW	5	107,037,791 (GRCm39)	missense	probably benign	0.03
R7763:Hfm1	UTSW	5	107,029,727 (GRCm39)	missense	probably damaging	1.00
R7828:Hfm1	UTSW	5	107,029,657 (GRCm39)	critical splice donor site	probably null
R7905:Hfm1	UTSW	5	107,046,419 (GRCm39)	missense	probably damaging	1.00
R8160:Hfm1	UTSW	5	107,043,899 (GRCm39)	missense	probably null	0.00
R8477:Hfm1	UTSW	5	107,029,684 (GRCm39)	missense	probably benign	0.01
R8739:Hfm1	UTSW	5	107,046,371 (GRCm39)	missense	probably damaging	0.96
R8968:Hfm1	UTSW	5	107,065,439 (GRCm39)	missense	probably benign	0.00
R9072:Hfm1	UTSW	5	107,046,146 (GRCm39)	missense	probably benign	0.04
R9073:Hfm1	UTSW	5	107,046,146 (GRCm39)	missense	probably benign	0.04
R9152:Hfm1	UTSW	5	106,989,611 (GRCm39)	missense	probably benign	0.01
R9234:Hfm1	UTSW	5	107,041,334 (GRCm39)	missense	probably benign
R9244:Hfm1	UTSW	5	107,022,766 (GRCm39)	missense	probably damaging	0.96
R9576:Hfm1	UTSW	5	107,021,938 (GRCm39)	missense	probably benign	0.00
R9649:Hfm1	UTSW	5	107,066,329 (GRCm39)	missense	possibly damaging	0.82
R9743:Hfm1	UTSW	5	107,022,125 (GRCm39)	missense	possibly damaging	0.55
R9782:Hfm1	UTSW	5	107,021,896 (GRCm39)	missense	probably benign	0.38
R9789:Hfm1	UTSW	5	107,065,346 (GRCm39)	missense	probably benign	0.00
Z1177:Hfm1	UTSW	5	107,019,686 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACAATGGCAAACAGCCTGTCTG -3'
(R):5'- CAGTCCATGTCAAGTCCTGTGTCTC -3'

Sequencing Primer
(F):5'- AAACAGCCTGTCTGTCTTGATAC -3'
(R):5'- TCTCTGCCATTGGAAAGACTG -3'

Posted On

2013-11-18