Mutagenetix > Incidental Mutation

Incidental Mutation 'R5959:Hfm1'

471339

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

044146-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106874917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 940 (S940P)

Ref Sequence

ENSEMBL: ENSMUSP00000112590 (fasta)

Gene Model

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

AlphaFold

D3Z4R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000112690
AA Change: S940P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: S940P

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: S940P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: S940P

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

unknown
Transcript: ENSMUST00000155171
AA Change: S153P

SMART Domains

Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410
AA Change: S153P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,215,966 (GRCm38)	N164Y	probably damaging	Het
Acp6	A	G	3: 97,166,572 (GRCm38)	E164G	probably damaging	Het
Adcy5	A	T	16: 35,298,410 (GRCm38)	I1044F	probably damaging	Het
Ahcyl2	A	G	6: 29,886,174 (GRCm38)	D363G	probably damaging	Het
Ankrd28	T	C	14: 31,729,922 (GRCm38)	T273A	probably benign	Het
Cc2d1a	A	T	8: 84,133,503 (GRCm38)	Y862*	probably null	Het
Cfap221	T	A	1: 119,932,781 (GRCm38)	H705L	probably damaging	Het
Cfap61	C	T	2: 145,947,133 (GRCm38)	T19M	probably benign	Het
Chga	T	C	12: 102,561,855 (GRCm38)	S202P	probably benign	Het
Cnmd	T	C	14: 79,656,669 (GRCm38)	I93V	probably damaging	Het
Cpne1	G	A	2: 156,078,223 (GRCm38)	S188L	probably benign	Het
Dchs2	G	A	3: 83,325,418 (GRCm38)	V2237I	probably benign	Het
Dguok	C	T	6: 83,490,592 (GRCm38)	R91H	probably benign	Het
Eed	A	G	7: 89,969,627 (GRCm38)	I193T	probably damaging	Het
Fasn	C	T	11: 120,808,564 (GRCm38)	E2353K	probably damaging	Het
Fpr-rs7	G	A	17: 20,113,749 (GRCm38)	H160Y	probably benign	Het
Gm12394	T	A	4: 42,793,492 (GRCm38)	K213N	probably damaging	Het
Gramd4	T	A	15: 86,127,557 (GRCm38)	M272K	probably damaging	Het
Ifnlr1	T	A	4: 135,705,341 (GRCm38)	S363T	possibly damaging	Het
Jak3	A	G	8: 71,682,071 (GRCm38)	N481D	probably damaging	Het
Kcnj3	A	G	2: 55,437,318 (GRCm38)	K40E	probably benign	Het
Kif20a	G	A	18: 34,632,415 (GRCm38)	A822T	probably benign	Het
Lpcat4	T	A	2: 112,240,035 (GRCm38)	L31H	possibly damaging	Het
Myo1c	A	G	11: 75,657,519 (GRCm38)	T38A	probably benign	Het
Myt1l	T	C	12: 29,920,040 (GRCm38)		probably null	Het
Nbas	T	C	12: 13,288,801 (GRCm38)	V214A	probably damaging	Het
Neb	C	A	2: 52,156,377 (GRCm38)	R6537L	probably benign	Het
Nwd2	T	A	5: 63,808,070 (GRCm38)	F1666I	probably benign	Het
Olfr67	T	A	7: 103,787,516 (GRCm38)	I254F	probably damaging	Het
Olfr906	A	G	9: 38,488,911 (GRCm38)	N294S	probably damaging	Het
Prmt8	C	A	6: 127,729,418 (GRCm38)	V137L	probably damaging	Het
Ptpn21	A	T	12: 98,708,889 (GRCm38)		probably null	Het
Rab15	A	G	12: 76,822,269 (GRCm38)	S17P	probably damaging	Het
Rbm5	T	G	9: 107,752,140 (GRCm38)	I338L	probably benign	Het
Rragc	G	A	4: 123,923,974 (GRCm38)	S218N	probably damaging	Het
Sacs	T	C	14: 61,212,400 (GRCm38)	M3965T	probably damaging	Het
Sgo2b	T	A	8: 63,927,288 (GRCm38)	I837F	probably benign	Het
Sorcs3	T	G	19: 48,749,396 (GRCm38)	C751G	probably damaging	Het
Sowahc	A	G	10: 59,223,098 (GRCm38)	D352G	probably benign	Het
Sox15	C	T	11: 69,655,730 (GRCm38)	R120C	probably damaging	Het
Srr	A	G	11: 74,911,065 (GRCm38)	V126A	possibly damaging	Het
Tenm3	T	A	8: 48,646,447 (GRCm38)	R108*	probably null	Het
Traf3ip2	A	T	10: 39,641,341 (GRCm38)	M403L	probably benign	Het
Trappc11	T	C	8: 47,501,558 (GRCm38)	D949G	probably damaging	Het
Ttn	T	A	2: 76,863,505 (GRCm38)	T218S	possibly damaging	Het
Ttn	A	G	2: 76,714,616 (GRCm38)	I32714T	probably damaging	Het
Uaca	A	T	9: 60,870,770 (GRCm38)	H811L	probably damaging	Het
Ugt2b1	T	C	5: 86,925,954 (GRCm38)	E182G	probably benign	Het
Vmn1r49	T	C	6: 90,072,804 (GRCm38)	D72G	probably damaging	Het
Vmn2r80	A	T	10: 79,169,479 (GRCm38)	M317L	probably benign	Het
Vwa2	T	C	19: 56,881,172 (GRCm38)	L13P	possibly damaging	Het
Zc3hav1	G	A	6: 38,307,444 (GRCm38)	T912I	probably benign	Het
Zfp703	C	T	8: 26,979,205 (GRCm38)	P299L	probably damaging	Het
Zfp948	A	G	17: 21,587,514 (GRCm38)	K323E	probably benign	Het
Zfyve27	T	G	19: 42,179,448 (GRCm38)	V143G	unknown	Het

Other mutations in Hfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Hfm1	APN	5	106,902,130 (GRCm38)	missense	possibly damaging	0.70
IGL01295:Hfm1	APN	5	106,917,606 (GRCm38)	missense	possibly damaging	0.46
IGL01725:Hfm1	APN	5	106,917,379 (GRCm38)	missense	probably benign	0.00
IGL01758:Hfm1	APN	5	106,904,793 (GRCm38)	missense	probably damaging	0.99
IGL01911:Hfm1	APN	5	106,911,544 (GRCm38)	missense	possibly damaging	0.92
IGL02337:Hfm1	APN	5	106,904,267 (GRCm38)	missense	possibly damaging	0.81
IGL02472:Hfm1	APN	5	106,873,928 (GRCm38)	splice site	probably benign
IGL02496:Hfm1	APN	5	106,901,761 (GRCm38)	missense	probably benign	0.00
IGL02545:Hfm1	APN	5	106,895,287 (GRCm38)	missense	probably damaging	1.00
IGL02584:Hfm1	APN	5	106,878,662 (GRCm38)	splice site	probably null
IGL02728:Hfm1	APN	5	106,878,823 (GRCm38)	missense	probably benign	0.13
IGL02881:Hfm1	APN	5	106,874,252 (GRCm38)	missense	probably damaging	1.00
IGL03108:Hfm1	APN	5	106,895,934 (GRCm38)	unclassified	probably benign
IGL03351:Hfm1	APN	5	106,911,575 (GRCm38)	nonsense	probably null
IGL03353:Hfm1	APN	5	106,856,929 (GRCm38)	missense	probably damaging	0.99
R0024:Hfm1	UTSW	5	106,856,924 (GRCm38)	missense	probably benign	0.41
R0024:Hfm1	UTSW	5	106,856,924 (GRCm38)	missense	probably benign	0.41
R0094:Hfm1	UTSW	5	106,917,478 (GRCm38)	missense	probably benign
R0633:Hfm1	UTSW	5	106,917,601 (GRCm38)	missense	possibly damaging	0.56
R0644:Hfm1	UTSW	5	106,898,256 (GRCm38)	critical splice donor site	probably null
R1078:Hfm1	UTSW	5	106,878,830 (GRCm38)	missense	probably damaging	1.00
R1120:Hfm1	UTSW	5	106,904,218 (GRCm38)	splice site	probably benign
R1166:Hfm1	UTSW	5	106,911,411 (GRCm38)	missense	probably benign	0.00
R1242:Hfm1	UTSW	5	106,874,901 (GRCm38)	missense	probably damaging	0.99
R1414:Hfm1	UTSW	5	106,872,353 (GRCm38)	missense	probably benign	0.01
R1450:Hfm1	UTSW	5	106,918,458 (GRCm38)	missense	probably damaging	0.99
R1529:Hfm1	UTSW	5	106,853,123 (GRCm38)	missense	probably benign	0.00
R1622:Hfm1	UTSW	5	106,893,523 (GRCm38)	missense	possibly damaging	0.58
R1710:Hfm1	UTSW	5	106,896,003 (GRCm38)	missense	probably damaging	0.96
R1710:Hfm1	UTSW	5	106,880,514 (GRCm38)	missense	probably damaging	1.00
R1757:Hfm1	UTSW	5	106,880,360 (GRCm38)	splice site	probably null
R1856:Hfm1	UTSW	5	106,847,676 (GRCm38)	missense	probably benign	0.00
R1984:Hfm1	UTSW	5	106,898,576 (GRCm38)	missense	probably damaging	0.98
R1985:Hfm1	UTSW	5	106,898,576 (GRCm38)	missense	probably damaging	0.98
R2040:Hfm1	UTSW	5	106,901,818 (GRCm38)	missense	probably damaging	1.00
R2122:Hfm1	UTSW	5	106,896,255 (GRCm38)	missense	probably damaging	1.00
R2426:Hfm1	UTSW	5	106,847,653 (GRCm38)	splice site	probably null
R2474:Hfm1	UTSW	5	106,872,416 (GRCm38)	missense	possibly damaging	0.81
R2926:Hfm1	UTSW	5	106,874,282 (GRCm38)	nonsense	probably null
R2944:Hfm1	UTSW	5	106,872,330 (GRCm38)	missense	probably damaging	1.00
R3705:Hfm1	UTSW	5	106,892,839 (GRCm38)	unclassified	probably benign
R4256:Hfm1	UTSW	5	106,904,797 (GRCm38)	missense	possibly damaging	0.83
R4455:Hfm1	UTSW	5	106,886,508 (GRCm38)	splice site	probably null
R4538:Hfm1	UTSW	5	106,874,890 (GRCm38)	missense	possibly damaging	0.47
R4540:Hfm1	UTSW	5	106,874,221 (GRCm38)	nonsense	probably null
R4591:Hfm1	UTSW	5	106,847,667 (GRCm38)	missense	probably benign	0.08
R4745:Hfm1	UTSW	5	106,901,843 (GRCm38)	missense	possibly damaging	0.87
R4747:Hfm1	UTSW	5	106,917,523 (GRCm38)	missense	probably benign
R4765:Hfm1	UTSW	5	106,842,539 (GRCm38)	missense	probably benign	0.21
R4821:Hfm1	UTSW	5	106,854,740 (GRCm38)	critical splice donor site	probably null
R4842:Hfm1	UTSW	5	106,892,751 (GRCm38)	missense	probably damaging	1.00
R4944:Hfm1	UTSW	5	106,874,213 (GRCm38)	missense	possibly damaging	0.46
R5093:Hfm1	UTSW	5	106,901,731 (GRCm38)	missense	probably damaging	1.00
R5399:Hfm1	UTSW	5	106,917,562 (GRCm38)	missense	possibly damaging	0.91
R5414:Hfm1	UTSW	5	106,902,076 (GRCm38)	missense	probably damaging	1.00
R5436:Hfm1	UTSW	5	106,892,772 (GRCm38)	missense	possibly damaging	0.61
R5459:Hfm1	UTSW	5	106,904,763 (GRCm38)	missense	probably damaging	1.00
R5485:Hfm1	UTSW	5	106,847,662 (GRCm38)	critical splice donor site	probably null
R5585:Hfm1	UTSW	5	106,911,439 (GRCm38)	missense	probably benign	0.05
R5631:Hfm1	UTSW	5	106,904,763 (GRCm38)	missense	probably damaging	1.00
R5705:Hfm1	UTSW	5	106,911,453 (GRCm38)	missense	probably benign	0.21
R5804:Hfm1	UTSW	5	106,878,589 (GRCm38)	splice site	probably null
R6046:Hfm1	UTSW	5	106,898,643 (GRCm38)	splice site	probably null
R6191:Hfm1	UTSW	5	106,886,553 (GRCm38)	missense	possibly damaging	0.95
R6345:Hfm1	UTSW	5	106,841,638 (GRCm38)	missense	probably benign
R6580:Hfm1	UTSW	5	106,847,709 (GRCm38)	missense	probably benign	0.00
R6651:Hfm1	UTSW	5	106,847,687 (GRCm38)	missense	probably benign	0.00
R6761:Hfm1	UTSW	5	106,895,279 (GRCm38)	missense	probably damaging	1.00
R6835:Hfm1	UTSW	5	106,878,815 (GRCm38)	nonsense	probably null
R6891:Hfm1	UTSW	5	106,917,374 (GRCm38)	missense	possibly damaging	0.49
R6924:Hfm1	UTSW	5	106,850,410 (GRCm38)	splice site	probably null
R6980:Hfm1	UTSW	5	106,880,477 (GRCm38)	missense	probably benign	0.31
R7054:Hfm1	UTSW	5	106,896,043 (GRCm38)	missense	probably benign	0.01
R7058:Hfm1	UTSW	5	106,911,440 (GRCm38)	missense	probably benign	0.04
R7189:Hfm1	UTSW	5	106,901,703 (GRCm38)	critical splice donor site	probably null
R7250:Hfm1	UTSW	5	106,904,331 (GRCm38)	missense	probably benign	0.00
R7376:Hfm1	UTSW	5	106,895,218 (GRCm38)	missense	possibly damaging	0.95
R7577:Hfm1	UTSW	5	106,896,043 (GRCm38)	missense	probably benign	0.01
R7636:Hfm1	UTSW	5	106,917,466 (GRCm38)	missense	probably benign	0.02
R7639:Hfm1	UTSW	5	106,898,475 (GRCm38)	missense	possibly damaging	0.46
R7639:Hfm1	UTSW	5	106,889,925 (GRCm38)	missense	probably benign	0.03
R7763:Hfm1	UTSW	5	106,881,861 (GRCm38)	missense	probably damaging	1.00
R7828:Hfm1	UTSW	5	106,881,791 (GRCm38)	critical splice donor site	probably null
R7905:Hfm1	UTSW	5	106,898,553 (GRCm38)	missense	probably damaging	1.00
R8160:Hfm1	UTSW	5	106,896,033 (GRCm38)	missense	probably null	0.00
R8477:Hfm1	UTSW	5	106,881,818 (GRCm38)	missense	probably benign	0.01
R8739:Hfm1	UTSW	5	106,898,505 (GRCm38)	missense	probably damaging	0.96
R8968:Hfm1	UTSW	5	106,917,573 (GRCm38)	missense	probably benign	0.00
R9072:Hfm1	UTSW	5	106,898,280 (GRCm38)	missense	probably benign	0.04
R9073:Hfm1	UTSW	5	106,898,280 (GRCm38)	missense	probably benign	0.04
R9152:Hfm1	UTSW	5	106,841,745 (GRCm38)	missense	probably benign	0.01
R9234:Hfm1	UTSW	5	106,893,468 (GRCm38)	missense	probably benign
R9244:Hfm1	UTSW	5	106,874,900 (GRCm38)	missense	probably damaging	0.96
R9576:Hfm1	UTSW	5	106,874,072 (GRCm38)	missense	probably benign	0.00
R9649:Hfm1	UTSW	5	106,918,463 (GRCm38)	missense	possibly damaging	0.82
R9743:Hfm1	UTSW	5	106,874,259 (GRCm38)	missense	possibly damaging	0.55
R9782:Hfm1	UTSW	5	106,874,030 (GRCm38)	missense	probably benign	0.38
R9789:Hfm1	UTSW	5	106,917,480 (GRCm38)	missense	probably benign	0.00
Z1177:Hfm1	UTSW	5	106,871,820 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACCCCAAACCTCTGTAATTG -3'
(R):5'- ACAGCCATTAGATGTTTAAAGGGG -3'

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

Posted On

2017-03-31