Mutagenetix > Incidental Mutation

Incidental Mutation 'R0374:Foxm1'

38513

Institutional Source

Beutler Lab

Gene Symbol

Foxm1

Ensembl Gene

ENSMUSG00000001517

Gene Name

forkhead box M1

Synonyms

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

MMRRC Submission

038580-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0374 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

128339957-128352849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128349566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 362 (R362W)

Ref Sequence

ENSEMBL: ENSMUSP00000073041 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000073316
AA Change: R362W

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

SMART Domains

Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517
AA Change: R362W

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: R347W

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

SMART Domains

Protein: ENSMUSP00000107776
Gene: ENSMUSG00000001517
AA Change: R347W

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

probably damaging
Transcript: ENSMUST00000203040
AA Change: R209W

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

SMART Domains

Protein: ENSMUSP00000145305
Gene: ENSMUSG00000001517
AA Change: R209W

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

unknown
Transcript: ENSMUST00000203258
AA Change: R182W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203779

Meta Mutation Damage Score

0.1257

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,687,727 (GRCm39)	I267T	probably damaging	Het
Anxa6	T	A	11: 54,896,654 (GRCm39)	N168I	probably benign	Het
Apbb1ip	A	G	2: 22,709,717 (GRCm39)		probably benign	Het
Aqr	G	A	2: 113,961,092 (GRCm39)	H723Y	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Car13	A	G	3: 14,721,357 (GRCm39)		probably benign	Het
Casp9	T	A	4: 141,534,484 (GRCm39)	I298N	possibly damaging	Het
Ccdc66	T	C	14: 27,220,430 (GRCm39)	E261G	probably damaging	Het
Cep192	T	A	18: 67,951,954 (GRCm39)	Y376*	probably null	Het
Cped1	T	A	6: 22,222,545 (GRCm39)		probably benign	Het
Ctbp2	A	T	7: 132,601,073 (GRCm39)	S563R	possibly damaging	Het
Ctdp1	A	G	18: 80,490,637 (GRCm39)		probably null	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Drd2	A	G	9: 49,311,084 (GRCm39)	T112A	probably benign	Het
Dusp1	A	G	17: 26,727,143 (GRCm39)	V52A	probably damaging	Het
Eea1	T	A	10: 95,875,634 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,288 (GRCm39)	V86A	probably benign	Het
Fbn1	A	T	2: 125,163,596 (GRCm39)	C2087S	possibly damaging	Het
Fosb	T	G	7: 19,041,075 (GRCm39)	R139S	probably damaging	Het
Frem2	A	G	3: 53,561,381 (GRCm39)	V1042A	probably damaging	Het
Gbe1	A	G	16: 70,280,802 (GRCm39)	H401R	probably benign	Het
Gm10549	C	T	18: 33,597,235 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,251,758 (GRCm39)		probably benign	Het
H2-DMb1	T	C	17: 34,378,399 (GRCm39)	V235A	probably benign	Het
Hr	A	G	14: 70,793,916 (GRCm39)	T59A	probably benign	Het
Itpr2	C	A	6: 146,260,890 (GRCm39)	A588S	probably benign	Het
Kmt2c	G	A	5: 25,514,706 (GRCm39)	P3046S	probably damaging	Het
Lamc1	G	A	1: 153,126,811 (GRCm39)		probably benign	Het
Lrp2	A	G	2: 69,260,651 (GRCm39)	Y4527H	probably damaging	Het
Map3k2	G	A	18: 32,345,226 (GRCm39)		probably null	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Nfs1	C	G	2: 155,974,580 (GRCm39)	G212R	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nrap	T	A	19: 56,340,054 (GRCm39)	Y740F	probably damaging	Het
Nup205	T	A	6: 35,185,772 (GRCm39)	M859K	probably damaging	Het
Nxf1	T	C	19: 8,745,103 (GRCm39)	F451S	possibly damaging	Het
Or5an1c	A	T	19: 12,218,505 (GRCm39)	N173K	probably damaging	Het
Or6c6c	G	A	10: 129,541,516 (GRCm39)	M256I	probably benign	Het
Pcdhac2	T	C	18: 37,278,720 (GRCm39)	Y567H	probably damaging	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pi4ka	A	G	16: 17,100,796 (GRCm39)		probably benign	Het
Pmpcb	A	G	5: 21,953,829 (GRCm39)	D359G	probably damaging	Het
Poll	T	G	19: 45,546,309 (GRCm39)	S244R	probably benign	Het
Prkd3	T	C	17: 79,264,644 (GRCm39)	D657G	probably null	Het
Prune2	G	A	19: 17,098,274 (GRCm39)	M1259I	probably benign	Het
Ptpra	T	A	2: 130,379,541 (GRCm39)	M329K	probably damaging	Het
Rbm10	GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	X: 20,503,798 (GRCm39)		probably benign	Het
Rbm15	G	T	3: 107,237,880 (GRCm39)	D839E	probably damaging	Het
Sap30bp	T	A	11: 115,855,103 (GRCm39)	I271N	probably damaging	Het
Scart2	T	A	7: 139,828,874 (GRCm39)	C178S	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setdb1	A	T	3: 95,232,164 (GRCm39)		probably benign	Het
Sgk3	T	A	1: 9,949,306 (GRCm39)		probably null	Het
Shox2	A	T	3: 66,881,184 (GRCm39)	H265Q	probably damaging	Het
Slc9a2	T	C	1: 40,783,017 (GRCm39)	F427S	possibly damaging	Het
Smarca5	T	A	8: 81,463,360 (GRCm39)	Q69H	probably benign	Het
Specc1l	T	A	10: 75,084,293 (GRCm39)	F672Y	probably damaging	Het
Ssh2	T	A	11: 77,298,969 (GRCm39)	S105R	probably damaging	Het
Syne2	C	T	12: 75,968,000 (GRCm39)	R917*	probably null	Het
Tbc1d2	G	A	4: 46,649,913 (GRCm39)	T41M	possibly damaging	Het
Tbx18	T	A	9: 87,606,408 (GRCm39)	I246F	probably damaging	Het
Tcf4	T	A	18: 69,814,883 (GRCm39)		probably benign	Het
Tmed2	C	A	5: 124,679,502 (GRCm39)		probably null	Het
Tmem243	A	T	5: 9,151,361 (GRCm39)	D15V	possibly damaging	Het
Vmn2r87	T	A	10: 130,307,848 (GRCm39)	S797C	probably damaging	Het
Vps13c	T	A	9: 67,793,528 (GRCm39)		probably benign	Het
Wls	T	A	3: 159,603,074 (GRCm39)	C162*	probably null	Het
Zbtb7c	C	T	18: 76,270,464 (GRCm39)	T184I	probably benign	Het
Zc3h13	A	G	14: 75,546,405 (GRCm39)	K169E	probably damaging	Het

Other mutations in Foxm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Foxm1	APN	6	128,347,930 (GRCm39)	missense	possibly damaging	0.94
IGL01312:Foxm1	APN	6	128,350,337 (GRCm39)	missense	probably damaging	0.97
IGL01317:Foxm1	APN	6	128,344,316 (GRCm39)	missense	probably damaging	0.98
IGL01683:Foxm1	APN	6	128,350,451 (GRCm39)	missense	probably benign	0.01
IGL01837:Foxm1	APN	6	128,343,167 (GRCm39)	unclassified	probably benign
IGL02039:Foxm1	APN	6	128,346,323 (GRCm39)	missense	probably damaging	1.00
IGL02490:Foxm1	APN	6	128,350,314 (GRCm39)	nonsense	probably null
IGL02685:Foxm1	APN	6	128,350,070 (GRCm39)	missense	possibly damaging	0.89
IGL03335:Foxm1	APN	6	128,349,531 (GRCm39)	missense	possibly damaging	0.92
R0625:Foxm1	UTSW	6	128,350,834 (GRCm39)	missense	probably damaging	1.00
R1420:Foxm1	UTSW	6	128,349,884 (GRCm39)	missense	possibly damaging	0.94
R1471:Foxm1	UTSW	6	128,350,837 (GRCm39)	missense	probably damaging	1.00
R2013:Foxm1	UTSW	6	128,352,465 (GRCm39)	splice site	probably null
R4334:Foxm1	UTSW	6	128,342,930 (GRCm39)	missense	probably damaging	1.00
R4753:Foxm1	UTSW	6	128,349,519 (GRCm39)	missense	probably null	0.89
R4834:Foxm1	UTSW	6	128,346,410 (GRCm39)	missense	probably damaging	1.00
R4997:Foxm1	UTSW	6	128,342,731 (GRCm39)	missense	probably benign	0.06
R5657:Foxm1	UTSW	6	128,350,351 (GRCm39)	missense	possibly damaging	0.95
R5666:Foxm1	UTSW	6	128,350,130 (GRCm39)	missense	possibly damaging	0.69
R5763:Foxm1	UTSW	6	128,343,071 (GRCm39)	missense	probably benign	0.06
R5982:Foxm1	UTSW	6	128,347,998 (GRCm39)	missense	probably damaging	1.00
R6164:Foxm1	UTSW	6	128,350,898 (GRCm39)	missense	probably benign	0.14
R8169:Foxm1	UTSW	6	128,348,671 (GRCm39)	splice site	probably null
R8750:Foxm1	UTSW	6	128,350,206 (GRCm39)	nonsense	probably null
R8844:Foxm1	UTSW	6	128,350,439 (GRCm39)	missense	probably damaging	1.00
R9142:Foxm1	UTSW	6	128,344,298 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCTCAGCATGGCTTCATAGATTG -3'
(R):5'- GATGGGCACCAGGTATGAGCTAAC -3'

Sequencing Primer
(F):5'- ATGGCTTCATAGATTGTGCTACC -3'
(R):5'- CCAGGTATGAGCTAACCCGAG -3'

Posted On

2013-05-23