Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02881:Hfm1'

362814

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

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02881

Quality Score

Status

Chromosome

Chromosomal Location

106840192-106926321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106874252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 976 (I976T)

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: I976T

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

SMART Domains

Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: I976T

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: I976T

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

SMART Domains

Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: I976T

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: I189T

SMART Domains

Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410
AA Change: I189T

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	A	8: 13,555,999		probably benign	Het
Aatf	A	G	11: 84,471,289		probably benign	Het
Asap3	A	T	4: 136,239,237	H542L	probably benign	Het
Cyp4v3	A	T	8: 45,308,716	L389H	probably damaging	Het
Dnah17	C	T	11: 118,042,118	E3605K	probably damaging	Het
Fry	C	T	5: 150,359,051	T347M	probably damaging	Het
Glul	C	A	1: 153,907,116	T191K	probably benign	Het
Gm6614	T	C	6: 141,972,243	R636G	probably benign	Het
Grsf1	A	T	5: 88,673,830	L125Q	probably damaging	Het
Itgb5	A	G	16: 33,919,905	T462A	probably benign	Het
Lmna	G	T	3: 88,502,926	R60S	possibly damaging	Het
Mrpl10	T	A	11: 97,047,073	V89D	probably damaging	Het
Muc5b	C	T	7: 141,857,712	T1465I	unknown	Het
Myh15	A	C	16: 49,117,265	D743A	possibly damaging	Het
Noxo1	C	A	17: 24,699,435	L190I	probably damaging	Het
Noxo1	T	A	17: 24,699,436	L190Q	probably damaging	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr1025-ps1	A	G	2: 85,918,116	S64G	probably benign	Het
Olfr1098	A	G	2: 86,922,713	V273A	possibly damaging	Het
Olfr1226	T	A	2: 89,193,641	Y131F	probably damaging	Het
Olfr170	A	T	16: 19,606,300	Y123N	probably damaging	Het
Pfkfb4	A	G	9: 109,007,296	T131A	probably null	Het
Phf20l1	T	C	15: 66,594,980		probably null	Het
Pnliprp2	A	G	19: 58,771,446	D363G	probably benign	Het
Prpf6	C	T	2: 181,632,071	T336I	probably benign	Het
Rcc1	C	T	4: 132,337,756	R139H	probably benign	Het
Sae1	T	G	7: 16,359,118	K221N	probably damaging	Het
Slc45a1	T	C	4: 150,638,530	K299R	probably benign	Het
Smad2	C	A	18: 76,299,780		probably null	Het
Tmem117	T	C	15: 94,879,425	F152S	probably damaging	Het
Tmem232	C	T	17: 65,450,370	C276Y	probably damaging	Het
Tor1b	A	T	2: 30,953,853	K47*	probably null	Het
Ttn	A	G	2: 76,909,803	V3464A	probably benign	Het
Ube3b	A	G	5: 114,412,884	T870A	possibly damaging	Het
Zscan25	T	G	5: 145,290,486	L320R	probably benign	Het

Other mutations in Hfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Hfm1	APN	5	106902130	missense	possibly damaging	0.70
IGL01295:Hfm1	APN	5	106917606	missense	possibly damaging	0.46
IGL01725:Hfm1	APN	5	106917379	missense	probably benign	0.00
IGL01758:Hfm1	APN	5	106904793	missense	probably damaging	0.99
IGL01911:Hfm1	APN	5	106911544	missense	possibly damaging	0.92
IGL02337:Hfm1	APN	5	106904267	missense	possibly damaging	0.81
IGL02472:Hfm1	APN	5	106873928	splice site	probably benign
IGL02496:Hfm1	APN	5	106901761	missense	probably benign	0.00
IGL02545:Hfm1	APN	5	106895287	missense	probably damaging	1.00
IGL02584:Hfm1	APN	5	106878662	splice site	probably null
IGL02728:Hfm1	APN	5	106878823	missense	probably benign	0.13
IGL03108:Hfm1	APN	5	106895934	unclassified	probably benign
IGL03351:Hfm1	APN	5	106911575	nonsense	probably null
IGL03353:Hfm1	APN	5	106856929	missense	probably damaging	0.99
R0024:Hfm1	UTSW	5	106856924	missense	probably benign	0.41
R0024:Hfm1	UTSW	5	106856924	missense	probably benign	0.41
R0094:Hfm1	UTSW	5	106917478	missense	probably benign
R0633:Hfm1	UTSW	5	106917601	missense	possibly damaging	0.56
R0644:Hfm1	UTSW	5	106898256	critical splice donor site	probably null
R1078:Hfm1	UTSW	5	106878830	missense	probably damaging	1.00
R1120:Hfm1	UTSW	5	106904218	splice site	probably benign
R1166:Hfm1	UTSW	5	106911411	missense	probably benign	0.00
R1242:Hfm1	UTSW	5	106874901	missense	probably damaging	0.99
R1414:Hfm1	UTSW	5	106872353	missense	probably benign	0.01
R1450:Hfm1	UTSW	5	106918458	missense	probably damaging	0.99
R1529:Hfm1	UTSW	5	106853123	missense	probably benign	0.00
R1622:Hfm1	UTSW	5	106893523	missense	possibly damaging	0.58
R1710:Hfm1	UTSW	5	106880514	missense	probably damaging	1.00
R1710:Hfm1	UTSW	5	106896003	missense	probably damaging	0.96
R1757:Hfm1	UTSW	5	106880360	splice site	probably null
R1856:Hfm1	UTSW	5	106847676	missense	probably benign	0.00
R1984:Hfm1	UTSW	5	106898576	missense	probably damaging	0.98
R1985:Hfm1	UTSW	5	106898576	missense	probably damaging	0.98
R2040:Hfm1	UTSW	5	106901818	missense	probably damaging	1.00
R2122:Hfm1	UTSW	5	106896255	missense	probably damaging	1.00
R2426:Hfm1	UTSW	5	106847653	splice site	probably null
R2474:Hfm1	UTSW	5	106872416	missense	possibly damaging	0.81
R2926:Hfm1	UTSW	5	106874282	nonsense	probably null
R2944:Hfm1	UTSW	5	106872330	missense	probably damaging	1.00
R3705:Hfm1	UTSW	5	106892839	unclassified	probably benign
R4256:Hfm1	UTSW	5	106904797	missense	possibly damaging	0.83
R4455:Hfm1	UTSW	5	106886508	splice site	probably null
R4538:Hfm1	UTSW	5	106874890	missense	possibly damaging	0.47
R4540:Hfm1	UTSW	5	106874221	nonsense	probably null
R4591:Hfm1	UTSW	5	106847667	missense	probably benign	0.08
R4745:Hfm1	UTSW	5	106901843	missense	possibly damaging	0.87
R4747:Hfm1	UTSW	5	106917523	missense	probably benign
R4765:Hfm1	UTSW	5	106842539	missense	probably benign	0.21
R4821:Hfm1	UTSW	5	106854740	critical splice donor site	probably null
R4842:Hfm1	UTSW	5	106892751	missense	probably damaging	1.00
R4944:Hfm1	UTSW	5	106874213	missense	possibly damaging	0.46
R5093:Hfm1	UTSW	5	106901731	missense	probably damaging	1.00
R5399:Hfm1	UTSW	5	106917562	missense	possibly damaging	0.91
R5414:Hfm1	UTSW	5	106902076	missense	probably damaging	1.00
R5436:Hfm1	UTSW	5	106892772	missense	possibly damaging	0.61
R5459:Hfm1	UTSW	5	106904763	missense	probably damaging	1.00
R5485:Hfm1	UTSW	5	106847662	critical splice donor site	probably null
R5585:Hfm1	UTSW	5	106911439	missense	probably benign	0.05
R5631:Hfm1	UTSW	5	106904763	missense	probably damaging	1.00
R5705:Hfm1	UTSW	5	106911453	missense	probably benign	0.21
R5804:Hfm1	UTSW	5	106878589	splice site	probably null
R5959:Hfm1	UTSW	5	106874917	missense	probably damaging	1.00
R6046:Hfm1	UTSW	5	106898643	splice site	probably null
R6191:Hfm1	UTSW	5	106886553	missense	possibly damaging	0.95
R6345:Hfm1	UTSW	5	106841638	missense	probably benign
R6580:Hfm1	UTSW	5	106847709	missense	probably benign	0.00
R6651:Hfm1	UTSW	5	106847687	missense	probably benign	0.00
R6761:Hfm1	UTSW	5	106895279	missense	probably damaging	1.00
R6835:Hfm1	UTSW	5	106878815	nonsense	probably null
R6891:Hfm1	UTSW	5	106917374	missense	possibly damaging	0.49
R6924:Hfm1	UTSW	5	106850410	splice site	probably null
R6980:Hfm1	UTSW	5	106880477	missense	probably benign	0.31
R7054:Hfm1	UTSW	5	106896043	missense	probably benign	0.01
R7058:Hfm1	UTSW	5	106911440	missense	probably benign	0.04
R7189:Hfm1	UTSW	5	106901703	critical splice donor site	probably null
R7250:Hfm1	UTSW	5	106904331	missense	probably benign	0.00
R7376:Hfm1	UTSW	5	106895218	missense	possibly damaging	0.95
R7577:Hfm1	UTSW	5	106896043	missense	probably benign	0.01
R7636:Hfm1	UTSW	5	106917466	missense	probably benign	0.02
R7639:Hfm1	UTSW	5	106889925	missense	probably benign	0.03
R7639:Hfm1	UTSW	5	106898475	missense	possibly damaging	0.46
R7763:Hfm1	UTSW	5	106881861	missense	probably damaging	1.00
R7828:Hfm1	UTSW	5	106881791	critical splice donor site	probably null
R7905:Hfm1	UTSW	5	106898553	missense	probably damaging	1.00
R8160:Hfm1	UTSW	5	106896033	missense	probably null	0.00
R8477:Hfm1	UTSW	5	106881818	missense	probably benign	0.01
R8739:Hfm1	UTSW	5	106898505	missense	probably damaging	0.96
R8968:Hfm1	UTSW	5	106917573	missense	probably benign	0.00
R9072:Hfm1	UTSW	5	106898280	missense	probably benign	0.04
R9073:Hfm1	UTSW	5	106898280	missense	probably benign	0.04
R9152:Hfm1	UTSW	5	106841745	missense	probably benign	0.01
R9234:Hfm1	UTSW	5	106893468	missense	probably benign
R9244:Hfm1	UTSW	5	106874900	missense	probably damaging	0.96
R9576:Hfm1	UTSW	5	106874072	missense	not run
Z1177:Hfm1	UTSW	5	106871820	missense	probably benign

Posted On

2015-12-18