Mutagenetix > Incidental Mutation

Incidental Mutation 'R9782:Hfm1'

734106

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 #

R9782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106988058-107074187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107021896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1013 (E1013G)

Ref Sequence

ENSEMBL: ENSMUSP00000108310 (fasta)

Gene Model

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

AlphaFold

D3Z4R1

Predicted Effect

probably benign
Transcript: ENSMUST00000112690
AA Change: E1013G

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: E1013G

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: E1013G

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: E1013G

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: E226G

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,053,796 (GRCm39)	M1K	probably null	Het
Atoh8	A	T	6: 72,200,848 (GRCm39)	L281M	possibly damaging	Het
Bckdha	A	G	7: 25,340,880 (GRCm39)		probably null	Het
Chil6	A	T	3: 106,296,121 (GRCm39)	Y371*	probably null	Het
Cilk1	A	T	9: 78,048,520 (GRCm39)	Q108L	probably damaging	Het
Fbxw18	G	T	9: 109,522,376 (GRCm39)	H164Q	probably benign	Het
Gucd1	T	G	10: 75,345,650 (GRCm39)	D135A	probably benign	Het
Hacd1	A	G	2: 14,040,751 (GRCm39)	I168T	possibly damaging	Het
Hsf4	G	A	8: 105,999,217 (GRCm39)		probably null	Het
Ift140	G	T	17: 25,264,151 (GRCm39)		probably null	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Imp4	T	A	1: 34,482,901 (GRCm39)	L164Q	probably damaging	Het
Jazf1	C	T	6: 52,747,311 (GRCm39)	V204I	probably benign	Het
Kmt2d	T	A	15: 98,764,597 (GRCm39)	D2V	probably damaging	Het
Knl1	T	C	2: 118,899,910 (GRCm39)	V537A	probably benign	Het
Mep1b	A	T	18: 21,208,720 (GRCm39)	D32V	possibly damaging	Het
Mki67	A	G	7: 135,306,066 (GRCm39)		probably null	Het
Morn3	C	T	5: 123,175,822 (GRCm39)	V189M	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Mtmr2	T	C	9: 13,713,293 (GRCm39)	M490T	probably benign	Het
Muc16	T	C	9: 18,548,066 (GRCm39)	T6076A	possibly damaging	Het
Myo1c	A	G	11: 75,549,273 (GRCm39)	E113G	probably damaging	Het
Nat8f4	A	T	6: 85,878,052 (GRCm39)	V157D	probably damaging	Het
Nectin4	T	C	1: 171,214,192 (GRCm39)	V449A	probably damaging	Het
Ogdhl	C	T	14: 32,061,909 (GRCm39)	T528M	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	G	A	2: 88,356,835 (GRCm39)	V303M	probably benign	Het
Or52l1	A	G	7: 104,830,067 (GRCm39)	V166A	probably damaging	Het
Pcdhb12	AT	A	18: 37,570,393 (GRCm39)		probably null	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pkn2	A	C	3: 142,516,237 (GRCm39)	V562G	possibly damaging	Het
Plxna1	C	A	6: 89,333,817 (GRCm39)	A271S	probably benign	Het
Ppp1r3a	C	T	6: 14,718,766 (GRCm39)	S716N	probably damaging	Het
Prss12	G	A	3: 123,271,762 (GRCm39)	G256S	probably benign	Het
Psg28	A	T	7: 18,164,331 (GRCm39)	M127K	probably benign	Het
Psmf1	T	C	2: 151,577,533 (GRCm39)	D48G	possibly damaging	Het
Rabggta	T	A	14: 55,955,944 (GRCm39)	M438L	possibly damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rbck1	T	C	2: 152,165,113 (GRCm39)	E297G	probably damaging	Het
Rras	A	T	7: 44,669,945 (GRCm39)	I126F	probably damaging	Het
Slc22a28	T	C	19: 8,041,813 (GRCm39)	R465G	probably null	Het
Slc28a2b	T	A	2: 122,352,338 (GRCm39)	I365N	probably damaging	Het
Snx19	A	G	9: 30,340,172 (GRCm39)	T437A	probably benign	Het
Son	A	T	16: 91,444,838 (GRCm39)	S15C	probably damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Sptbn4	G	T	7: 27,107,993 (GRCm39)	Q810K	probably benign	Het
Tmtc2	T	C	10: 105,026,062 (GRCm39)	Y802C	probably damaging	Het
Trrap	T	A	5: 144,758,716 (GRCm39)	M2181K	probably damaging	Het
Ttc23l	A	G	15: 10,530,767 (GRCm39)	S282P	probably damaging	Het
Zbtb7a	G	A	10: 80,979,910 (GRCm39)	D35N	probably damaging	Het
Zc3h3	C	A	15: 75,681,489 (GRCm39)	V531L	probably damaging	Het
Zfhx4	A	G	3: 5,466,514 (GRCm39)	D2249G	probably benign	Het
Zfp87	T	C	13: 74,520,932 (GRCm39)	K49E	probably benign	Het
Zfp942	T	C	17: 22,147,463 (GRCm39)	T389A	probably benign	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
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
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'- TTGCCCCACTGTTACACCAG -3'
(R):5'- GCCGAAGTATGAGCTTGAGGTG -3'

Sequencing Primer
(F):5'- CCCACTGTTACACCAGGAAAC -3'
(R):5'- TGGAGCAGGTGAATATTCTGAC -3'

Posted On

2022-11-14