Mutagenetix > Incidental Mutation

Incidental Mutation 'R8169:Foxm1'

643795

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

067595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8169 (G1)

Quality Score

107.008

Status

Validated

Chromosome

Chromosomal Location

128339957-128352849 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 128348671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145305 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000073316

SMART Domains

Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517

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 benign
Transcript: ENSMUST00000112148

SMART Domains

Protein: ENSMUSP00000107776
Gene: ENSMUSG00000001517

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

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

probably null
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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (80/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	C	A	5: 139,349,812 (GRCm39)	G79V	probably damaging	Het
4930562C15Rik	T	A	16: 4,684,082 (GRCm39)	Y226N	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Bach1	G	A	16: 87,519,390 (GRCm39)	C560Y	possibly damaging	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Casq2	G	T	3: 102,017,628 (GRCm39)	A103S	possibly damaging	Het
Cfap100	A	G	6: 90,394,656 (GRCm39)	F57S		Het
Clca3a2	A	T	3: 144,783,653 (GRCm39)	L654Q	probably damaging	Het
Cntnap5c	T	A	17: 58,411,765 (GRCm39)		probably null	Het
Cplane2	A	G	4: 140,945,530 (GRCm39)	H127R	probably damaging	Het
Crtc2	G	C	3: 90,170,883 (GRCm39)	G652A	probably damaging	Het
Csnk1g2	A	G	10: 80,475,636 (GRCm39)	D401G	probably damaging	Het
Dars1	T	C	1: 128,304,002 (GRCm39)	N242D	probably null	Het
Dnah10	T	C	5: 124,877,946 (GRCm39)	L2677P	probably damaging	Het
Dnal1	G	A	12: 84,171,330 (GRCm39)	A3T	probably benign	Het
Dpep2	C	T	8: 106,722,849 (GRCm39)	V60I		Het
Eeig1	T	C	2: 32,453,760 (GRCm39)	I203T	probably benign	Het
Ehmt2	T	A	17: 35,122,339 (GRCm39)	I302N	probably benign	Het
Eif3a	C	T	19: 60,750,628 (GRCm39)	R1309Q	unknown	Het
Eno4	T	A	19: 58,935,084 (GRCm39)	Y100N	probably benign	Het
Ephx2	A	T	14: 66,349,602 (GRCm39)		probably null	Het
Fbxw14	A	T	9: 109,106,284 (GRCm39)	I251K	probably benign	Het
Fcgbp	T	C	7: 27,784,919 (GRCm39)		probably null	Het
Fscn3	T	A	6: 28,430,328 (GRCm39)	I166N	possibly damaging	Het
Gdpd4	G	T	7: 97,621,335 (GRCm39)	V193L	probably benign	Het
Gnpat	T	G	8: 125,606,869 (GRCm39)	C352G	probably benign	Het
H2-Q7	T	A	17: 35,658,910 (GRCm39)	Y120*	probably null	Het
Klri1	G	A	6: 129,694,070 (GRCm39)	R6C	probably benign	Het
Kmo	T	C	1: 175,476,729 (GRCm39)	V154A	probably benign	Het
Kmt2c	A	G	5: 25,559,685 (GRCm39)	L1031P	probably damaging	Het
Lrrc14b	T	G	13: 74,511,286 (GRCm39)	T265P	possibly damaging	Het
Lrrc2	C	T	9: 110,809,954 (GRCm39)	T330I	probably benign	Het
Lyn	T	A	4: 3,783,050 (GRCm39)	S428T	probably damaging	Het
Lypd10	T	A	7: 24,412,000 (GRCm39)	M60K	probably benign	Het
Mfsd8	T	A	3: 40,791,550 (GRCm39)	M59L	probably benign	Het
Mok	T	A	12: 110,774,799 (GRCm39)	Q341L	probably benign	Het
Muc21	T	C	17: 35,932,072 (GRCm39)	T705A	unknown	Het
Myh3	C	A	11: 66,979,856 (GRCm39)	N598K	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp4e	A	G	7: 23,019,931 (GRCm39)	I139M	probably benign	Het
Or11g25	T	C	14: 50,723,692 (GRCm39)	V259A	probably benign	Het
Or3a10	T	A	11: 73,935,707 (GRCm39)	Q131L	possibly damaging	Het
Or4b13	G	A	2: 90,082,442 (GRCm39)	R297*	probably null	Het
Or51g2	A	G	7: 102,622,545 (GRCm39)	L218P	probably damaging	Het
Or52n2b	A	T	7: 104,565,619 (GRCm39)	Y295N	possibly damaging	Het
Osbpl7	G	A	11: 96,945,676 (GRCm39)	S312N	probably damaging	Het
Paxip1	A	G	5: 27,977,093 (GRCm39)	L323P	unknown	Het
Pcdh18	T	A	3: 49,699,684 (GRCm39)	H926L	probably damaging	Het
Pcm1	T	G	8: 41,763,153 (GRCm39)	S1460R	possibly damaging	Het
Pdha2	A	G	3: 140,917,155 (GRCm39)	S118P	possibly damaging	Het
Pdss1	A	T	2: 22,791,824 (GRCm39)	Y86F	probably benign	Het
Ppargc1a	A	T	5: 51,631,026 (GRCm39)	D534E	probably benign	Het
Prune2	A	G	19: 17,102,455 (GRCm39)	K2538R	probably benign	Het
Ptprq	A	T	10: 107,418,351 (GRCm39)	I1675N	probably damaging	Het
Rgma	C	T	7: 73,025,630 (GRCm39)	P3L	probably benign	Het
Ros1	A	G	10: 51,940,768 (GRCm39)		probably null	Het
Sema4g	C	T	19: 44,987,410 (GRCm39)	R519W	probably damaging	Het
Serpinc1	T	A	1: 160,820,971 (GRCm39)	F139L	probably damaging	Het
Slc22a29	A	G	19: 8,184,696 (GRCm39)	I198T	probably damaging	Het
Slc4a5	T	C	6: 83,280,373 (GRCm39)	V1007A	probably benign	Het
Sptbn1	T	C	11: 30,147,783 (GRCm39)	Y17C	possibly damaging	Het
Tex261	C	A	6: 83,751,999 (GRCm39)		probably null	Het
Timmdc1	T	A	16: 38,331,148 (GRCm39)	T128S	probably benign	Het
Tmem120b	C	A	5: 123,237,999 (GRCm39)	Y96*	probably null	Het
Tmem196	T	A	12: 119,982,311 (GRCm39)	F182I	possibly damaging	Het
Tnxb	G	A	17: 34,918,181 (GRCm39)	V2365M	possibly damaging	Het
Tph1	T	C	7: 46,303,233 (GRCm39)		silent	Het
Trmt9b	A	T	8: 36,978,857 (GRCm39)	K153N	probably damaging	Het
Trpc1	G	A	9: 95,592,323 (GRCm39)	Q551*	probably null	Het
Tubgcp3	T	C	8: 12,666,099 (GRCm39)	N828D	probably benign	Het
Unc13a	C	A	8: 72,108,933 (GRCm39)	G478W	probably damaging	Het
Usp15	T	A	10: 122,961,798 (GRCm39)	T627S		Het
Vmn1r115	A	T	7: 20,578,144 (GRCm39)	I256N	probably damaging	Het
Vmn2r6	T	A	3: 64,447,310 (GRCm39)	K585N	probably benign	Het
Vsir	G	T	10: 60,194,047 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,343,543 (GRCm39)	D1928G	probably benign	Het
Xylt1	A	G	7: 117,249,846 (GRCm39)	Y672C	probably damaging	Het
Yrdc	A	G	4: 124,744,880 (GRCm39)	S105G	probably benign	Het
Zfc3h1	T	A	10: 115,254,616 (GRCm39)	N1403K	probably damaging	Het
Zfp160	A	T	17: 21,247,298 (GRCm39)	H616L	probably damaging	Het
Zfp637	T	A	6: 117,822,252 (GRCm39)	F127I	probably damaging	Het
Zfp69	G	T	4: 120,787,731 (GRCm39)	A528D	probably damaging	Het
Zpr1	T	A	9: 46,189,645 (GRCm39)	L342Q	possibly 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
R0374:Foxm1	UTSW	6	128,349,566 (GRCm39)	missense	probably damaging	1.00
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
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'- GGTGAATCTGGGATAGGCCTAG -3'
(R):5'- GAAGAAACCTACTGTCCAGGGG -3'

Sequencing Primer
(F):5'- CTCTTGTGGAACCTGGAGCTAC -3'
(R):5'- GGACACCATGGAGAATGTTTCCC -3'

Posted On

2020-08-19