Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01911:Hfm1'

179806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hfm1

Ensembl Gene

ENSMUSG00000043410

Gene Name

HFM1, ATP-dependent DNA helicase homolog

Synonyms

LOC381663, A330009G12Rik, Mer3, Sec63d1

Accession Numbers

Essential gene?

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

Stock #

IGL01911

Quality Score

Status

Chromosome

Chromosomal Location

106988058-107074187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107059410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 204 (T204M)

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: T204M

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: T204M

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: T204M

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: T204M

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: T204M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410
AA Change: T204M

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

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	T	C	1: 58,191,719 (GRCm39)	F424L	probably benign	Het
Arhgap11a	T	C	2: 113,671,077 (GRCm39)	T301A	probably damaging	Het
Atp9a	C	A	2: 168,495,481 (GRCm39)	R575L	probably damaging	Het
Brca2	G	A	5: 150,491,078 (GRCm39)	D3088N	probably damaging	Het
Brd3	G	A	2: 27,349,812 (GRCm39)	T247I	probably damaging	Het
Btbd8	A	G	5: 107,656,446 (GRCm39)	H903R	probably damaging	Het
Cacna1i	A	G	15: 80,275,933 (GRCm39)	N1908S	probably benign	Het
Ccdc40	A	T	11: 119,122,797 (GRCm39)		probably null	Het
Cdyl	T	C	13: 36,047,226 (GRCm39)	V389A	probably damaging	Het
Col28a1	A	G	6: 8,014,963 (GRCm39)	F814S	probably damaging	Het
Cstf3	T	C	2: 104,476,976 (GRCm39)	F149S	probably damaging	Het
Dglucy	T	C	12: 100,804,784 (GRCm39)	Y122H	probably damaging	Het
Dram1	T	C	10: 88,161,203 (GRCm39)	D222G	probably damaging	Het
Ets2	G	A	16: 95,512,802 (GRCm39)	R96H	probably damaging	Het
Gm11563	T	A	11: 99,549,527 (GRCm39)	R76*	probably null	Het
Gm17093	A	C	14: 44,758,277 (GRCm39)		probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gpi1	A	T	7: 33,920,347 (GRCm39)	V136D	probably damaging	Het
Itgae	T	C	11: 73,006,963 (GRCm39)	I403T	probably damaging	Het
Krt75	A	T	15: 101,476,537 (GRCm39)	D409E	probably damaging	Het
Limk2	T	G	11: 3,305,340 (GRCm39)	T76P	probably benign	Het
Mtus2	A	T	5: 148,015,030 (GRCm39)	M608L	probably benign	Het
Obscn	C	A	11: 58,899,421 (GRCm39)	E979*	probably null	Het
Or52ab7	T	G	7: 102,978,480 (GRCm39)	F262L	probably benign	Het
P2rx7	C	T	5: 122,796,831 (GRCm39)	A166V	probably damaging	Het
Pomgnt2	T	C	9: 121,811,854 (GRCm39)	E309G	probably benign	Het
Sbno2	A	T	10: 79,905,458 (GRCm39)	Y199*	probably null	Het
Setd2	C	A	9: 110,446,499 (GRCm39)		probably null	Het
Slc66a1	A	G	4: 139,028,384 (GRCm39)	V186A	probably benign	Het
Vmn2r84	T	A	10: 130,222,277 (GRCm39)	I648F	probably damaging	Het
Vrtn	C	T	12: 84,696,980 (GRCm39)	R577W	probably benign	Het
Znhit6	A	G	3: 145,283,853 (GRCm39)		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
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
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

Posted On

2014-05-07