Mutagenetix > Incidental Mutations

Incidental Mutation 'R0625:Foxm1'

57418

Institutional Source

Beutler Lab

Gene Symbol

Foxm1

Ensembl Gene

ENSMUSG00000001517

Gene Name

forkhead box M1

Synonyms

WIN, Mpm2, Foxm1b, Trident, Fkh16, HFH-11B

MMRRC Submission

038814-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128362967-128376146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128373871 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 712 (S712G)

Ref Sequence

ENSEMBL: ENSMUSP00000107776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073316] [ENSMUST00000100926] [ENSMUST00000112148] [ENSMUST00000130785] [ENSMUST00000203040] [ENSMUST00000204223]

Predicted Effect

probably damaging
Transcript: ENSMUST00000073316
AA Change: S727G

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

SMART Domains

Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517
AA Change: S727G

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	35	55	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	140	158	N/A	INTRINSIC
FH	232	319	2.86e-42	SMART
low complexity region	429	454	N/A	INTRINSIC
low complexity region	504	515	N/A	INTRINSIC
low complexity region	533	546	N/A	INTRINSIC
low complexity region	685	702	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100926

SMART Domains

Protein: ENSMUSP00000098486
Gene: ENSMUSG00000079304

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
Pfam:DUF4532	28	306	1.9e-158	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112148
AA Change: S712G

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

SMART Domains

Protein: ENSMUSP00000107776
Gene: ENSMUSG00000001517
AA Change: S712G

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	35	55	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	140	158	N/A	INTRINSIC
FH	232	319	2.86e-42	SMART
low complexity region	414	439	N/A	INTRINSIC
low complexity region	489	500	N/A	INTRINSIC
low complexity region	518	531	N/A	INTRINSIC
low complexity region	670	687	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125456

Predicted Effect

probably benign
Transcript: ENSMUST00000130785

SMART Domains

Protein: ENSMUSP00000145112
Gene: ENSMUSG00000079304

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
Pfam:DUF4532	28	223	3.9e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153423

Predicted Effect

probably benign
Transcript: ENSMUST00000203040

SMART Domains

Protein: ENSMUSP00000145305
Gene: ENSMUSG00000001517

Domain	Start	End	E-Value	Type
FH	78	165	1.2e-44	SMART
low complexity region	276	301	N/A	INTRINSIC
low complexity region	351	362	N/A	INTRINSIC
low complexity region	380	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203779

Predicted Effect

probably benign
Transcript: ENSMUST00000204223

SMART Domains

Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	190	201	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

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 a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele die in utero exhibiting reduced hepatoblast mitosis, impaired liver, bile duct and lung development, myocardial defects and ventricular hypoplasia. Most homozygotes for another null allele die perinatally with myocardialdefects and polyploidy in heart and liver. [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
4930550C14Rik	T	C	9: 53,408,065	S2P	probably benign	Het
Abca16	A	C	7: 120,435,893	T301P	probably damaging	Het
Acer2	A	G	4: 86,887,162	D121G	possibly damaging	Het
Adgrd1	T	C	5: 129,171,931		probably null	Het
Arhgap11a	T	C	2: 113,841,711	I249V	probably benign	Het
Arhgap22	A	G	14: 33,366,714	E219G	probably benign	Het
C2cd4b	T	A	9: 67,759,751	S10T	probably benign	Het
Cnot6	A	T	11: 49,683,171	I224N	probably damaging	Het
Ctrc	T	C	4: 141,841,518	T125A	probably damaging	Het
Cxxc5	T	G	18: 35,858,589	S14R	unknown	Het
Cyp4f37	T	G	17: 32,634,678	F445L	probably damaging	Het
Dcbld1	T	G	10: 52,312,850	I186S	probably benign	Het
Dmxl2	T	C	9: 54,382,702	T2510A	probably benign	Het
Dnah3	A	G	7: 120,071,887	I591T	possibly damaging	Het
Dock5	A	T	14: 67,841,163	I204N	probably benign	Het
Dysf	G	A	6: 84,111,987		probably null	Het
Erich5	A	G	15: 34,471,369	E248G	probably damaging	Het
Fam160a1	A	G	3: 85,730,500	V164A	possibly damaging	Het
Frmpd1	A	G	4: 45,284,055	T959A	probably benign	Het
Gfra4	C	T	2: 131,040,256	V277I	probably null	Het
Hacd4	T	C	4: 88,435,010	I82V	probably benign	Het
Itih2	C	T	2: 10,123,414	V159I	possibly damaging	Het
Itpr2	T	A	6: 146,166,651	M2410L	probably benign	Het
March11	A	G	15: 26,311,043	I202V	probably damaging	Het
March3	A	G	18: 56,811,830		probably null	Het
Med12l	G	A	3: 59,247,437	E1135K	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mlx	T	C	11: 101,087,782	L78P	possibly damaging	Het
Muc5b	T	C	7: 141,846,427	C473R	unknown	Het
N4bp2l1	T	A	5: 150,576,745	R66*	probably null	Het
Nes	A	G	3: 87,977,172	T913A	possibly damaging	Het
Oas1a	T	C	5: 120,899,259	E235G	probably damaging	Het
Olfr1104	T	A	2: 87,021,620	H308L	probably benign	Het
Olfr477	T	C	7: 107,991,189	S275P	probably damaging	Het
Olfr905	T	C	9: 38,473,208	S154P	possibly damaging	Het
Parn	C	T	16: 13,640,294	V286I	probably benign	Het
Paxip1	G	A	5: 27,765,942	Q470*	probably null	Het
Phc2	C	G	4: 128,723,710	H510D	possibly damaging	Het
Pla2g4f	T	A	2: 120,305,041	D384V	probably damaging	Het
Plpbp	A	T	8: 27,045,131	N68I	probably damaging	Het
Podxl2	G	A	6: 88,849,955	A123V	possibly damaging	Het
Pole	A	T	5: 110,325,550	T1737S	possibly damaging	Het
Ppp3cc	T	C	14: 70,225,027	E396G	probably damaging	Het
Pramel7	T	A	2: 87,491,008	I228F	probably benign	Het
Prl7d1	A	T	13: 27,710,140	C149S	probably benign	Het
Qtrt1	G	T	9: 21,418,288	M217I	probably benign	Het
Sec24a	T	A	11: 51,729,454	D456V	probably damaging	Het
Shox2	T	G	3: 66,981,544		probably null	Het
Skint2	T	A	4: 112,624,086	S49T	probably damaging	Het
Smarca5	A	G	8: 80,720,686		probably null	Het
Sorcs2	T	A	5: 36,024,572	D1068V	possibly damaging	Het
Tmem114	T	C	16: 8,412,102		probably null	Het
Ttc7b	T	A	12: 100,355,046	M24L	probably benign	Het
Ttll3	A	G	6: 113,408,903		probably null	Het
Usp7	C	T	16: 8,704,982	D102N	probably benign	Het

Other mutations in Foxm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Foxm1	APN	6	128370967	missense	possibly damaging	0.94
IGL01312:Foxm1	APN	6	128373374	missense	probably damaging	0.97
IGL01317:Foxm1	APN	6	128367353	missense	probably damaging	0.98
IGL01683:Foxm1	APN	6	128373488	missense	probably benign	0.01
IGL01837:Foxm1	APN	6	128366204	unclassified	probably benign
IGL02039:Foxm1	APN	6	128369360	missense	probably damaging	1.00
IGL02490:Foxm1	APN	6	128373351	nonsense	probably null
IGL02685:Foxm1	APN	6	128373107	missense	possibly damaging	0.89
IGL03335:Foxm1	APN	6	128372568	missense	possibly damaging	0.92
R0374:Foxm1	UTSW	6	128372603	missense	probably damaging	1.00
R1420:Foxm1	UTSW	6	128372921	missense	possibly damaging	0.94
R1471:Foxm1	UTSW	6	128373874	missense	probably damaging	1.00
R2013:Foxm1	UTSW	6	128375502	splice site	probably null
R4334:Foxm1	UTSW	6	128365967	missense	probably damaging	1.00
R4753:Foxm1	UTSW	6	128372556	missense	probably null	0.89
R4834:Foxm1	UTSW	6	128369447	missense	probably damaging	1.00
R4997:Foxm1	UTSW	6	128365768	missense	probably benign	0.06
R5657:Foxm1	UTSW	6	128373388	missense	possibly damaging	0.95
R5666:Foxm1	UTSW	6	128373167	missense	possibly damaging	0.69
R5763:Foxm1	UTSW	6	128366108	missense	probably benign	0.06
R5982:Foxm1	UTSW	6	128371035	missense	probably damaging	1.00
R6164:Foxm1	UTSW	6	128373935	missense	probably benign	0.14
R8169:Foxm1	UTSW	6	128371708	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGGTTAGATTTCAGCCCAGTACG -3'
(R):5'- TGAGCCACACAAGTGCCAGGATAG -3'

Sequencing Primer
(F):5'- TTGATGGAGCTGAATACCACC -3'
(R):5'- ATAGCAGGCGGCTTGAGTG -3'

Posted On

2013-07-11