Mutagenetix > Incidental Mutation

Incidental Mutation 'R9244:Hfm1'

701146

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

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106988058-107074187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 107022766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 945 (N945K)

Ref Sequence

ENSEMBL: ENSMUSP00000108310 (fasta)

Gene Model

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

AlphaFold

D3Z4R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000112690
AA Change: N945K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: N945K

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: N945K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: N945K

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

SMART Domains

Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410
AA Change: N158K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,577 (GRCm39)	I1147V	probably benign	Het
Adcy10	A	G	1: 165,370,679 (GRCm39)	T653A	probably benign	Het
App	A	G	16: 84,759,629 (GRCm39)	I656T	probably damaging	Het
Arnt	T	A	3: 95,397,879 (GRCm39)	I574N	possibly damaging	Het
Cdc42	T	C	4: 137,056,391 (GRCm39)	T75A	probably benign	Het
Cdh23	C	A	10: 60,249,442 (GRCm39)	K822N	possibly damaging	Het
Chrnb3	T	A	8: 27,884,594 (GRCm39)	L444I	unknown	Het
Ctnnbl1	G	T	2: 157,678,583 (GRCm39)	K395N	possibly damaging	Het
Dmxl1	T	A	18: 50,026,316 (GRCm39)	I1808K	probably benign	Het
Dnajb8	C	A	6: 88,199,884 (GRCm39)	P140Q	probably damaging	Het
Dock5	G	A	14: 67,996,563 (GRCm39)	R1727W	probably damaging	Het
Dscam	G	A	16: 96,486,429 (GRCm39)	T1082I	possibly damaging	Het
Eaf1	T	C	14: 31,219,766 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,460,700 (GRCm39)	Y207C	probably damaging	Het
Enpp3	T	C	10: 24,654,689 (GRCm39)	D663G	probably damaging	Het
Epha5	A	G	5: 84,265,441 (GRCm39)	V451A	probably benign	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Esco2	A	G	14: 66,059,088 (GRCm39)	W530R	probably damaging	Het
Fhip1b	A	G	7: 105,038,870 (GRCm39)	V123A	possibly damaging	Het
Fhod3	T	C	18: 25,248,922 (GRCm39)	I1367T	probably damaging	Het
Fryl	T	C	5: 73,348,862 (GRCm39)		probably benign	Het
Get1	A	G	16: 95,955,383 (GRCm39)	T147A	probably benign	Het
Gm42669	A	G	5: 107,656,370 (GRCm39)	T295A	possibly damaging	Het
Harbi1	A	G	2: 91,543,040 (GRCm39)	N167S	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Htr1f	G	T	16: 64,746,857 (GRCm39)	T145K	probably benign	Het
Igf2bp2	A	C	16: 21,886,901 (GRCm39)	S453A	possibly damaging	Het
Ipo4	A	T	14: 55,871,799 (GRCm39)	W116R	probably damaging	Het
Jak1	T	C	4: 101,015,040 (GRCm39)	H917R	probably benign	Het
Klrb1b	A	T	6: 128,792,245 (GRCm39)	C189*	probably null	Het
Lrrn2	A	G	1: 132,865,058 (GRCm39)	Y41C	probably damaging	Het
Lrrn2	T	C	1: 132,865,237 (GRCm39)	S101P	probably damaging	Het
Mcmdc2	C	T	1: 9,985,835 (GRCm39)	T127I	probably damaging	Het
Mtch1	C	A	17: 29,566,626 (GRCm39)	A46S	unknown	Het
Ndufb5	C	A	3: 32,795,906 (GRCm39)	Q33K	probably null	Het
Nufip2	T	C	11: 77,583,475 (GRCm39)	V463A	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2r3	T	A	6: 42,448,537 (GRCm39)	I192F	possibly damaging	Het
Or5p62	A	G	7: 107,771,852 (GRCm39)	I33T	probably benign	Het
Or6d12	G	A	6: 116,492,782 (GRCm39)	V15I	probably benign	Het
Or8j3c	A	T	2: 86,253,423 (GRCm39)	V199E	probably damaging	Het
Pira13	T	C	7: 3,825,226 (GRCm39)	D472G	unknown	Het
Ppip5k1	A	C	2: 121,164,932 (GRCm39)	S972A	probably benign	Het
Prl8a2	A	T	13: 27,534,982 (GRCm39)	M86L	probably benign	Het
Prorsd1	T	C	11: 29,463,271 (GRCm39)	I164V	probably benign	Het
Ptgs1	A	G	2: 36,130,724 (GRCm39)	T208A	probably damaging	Het
Ptpn3	A	T	4: 57,254,915 (GRCm39)		probably null	Het
Reln	T	C	5: 22,120,151 (GRCm39)	R2834G	probably damaging	Het
Shc4	G	T	2: 125,497,589 (GRCm39)	Y373*	probably null	Het
Skor1	A	T	9: 63,049,524 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,249 (GRCm39)	S591P	probably damaging	Het
Stat2	A	G	10: 128,118,634 (GRCm39)	E389G	possibly damaging	Het
Trav14n-3	C	A	14: 53,608,004 (GRCm39)	D111E	probably damaging	Het
Unc5c	A	G	3: 141,533,370 (GRCm39)	S873G	probably benign	Het
Vmn1r210	T	C	13: 23,012,089 (GRCm39)	I66V	probably benign	Het
Vmn2r117	T	A	17: 23,696,589 (GRCm39)	I273F	probably damaging	Het
Vmn2r95	T	A	17: 18,672,189 (GRCm39)	M714K	possibly damaging	Het
Zfp235	A	G	7: 23,839,919 (GRCm39)	T113A	probably benign	Het
Zranb1	T	G	7: 132,585,640 (GRCm39)	L696R	probably damaging	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
R1078:Hfm1	UTSW	5	107,026,696 (GRCm39)	missense	probably damaging	1.00
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
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'- TCACCCCAAACCTCTGTAATTG -3'
(R):5'- CAGCCATTAGATGTTTAAAGGGGTTG -3'

Sequencing Primer
(F):5'- CACCTCCTAAGAGCTGGAGTTATG -3'
(R):5'- AACTACTTTTTGCAGACCCGGG -3'

Posted On

2022-03-25