Mutagenetix > Incidental Mutation

Incidental Mutation 'R8750:Foxm1'

663769

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

068593-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8750 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128339957-128352849 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 128350206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 517 (C517*)

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 null
Transcript: ENSMUST00000073316
AA Change: C517*

SMART Domains

Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517
AA Change: C517*

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 null
Transcript: ENSMUST00000112148
AA Change: C502*

SMART Domains

Protein: ENSMUSP00000107776
Gene: ENSMUSG00000001517
AA Change: C502*

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
AA Change: C364*

SMART Domains

Protein: ENSMUSP00000145305
Gene: ENSMUSG00000001517
AA Change: C364*

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: 99.6%
20x: 98.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,247 (GRCm39)	Q172*	probably null	Het
Ankib1	A	G	5: 3,752,890 (GRCm39)		probably null	Het
Avpr1b	C	T	1: 131,527,674 (GRCm39)	R66C	probably damaging	Het
Bbs7	A	T	3: 36,661,744 (GRCm39)	C152S	possibly damaging	Het
Cacna1a	C	A	8: 85,285,784 (GRCm39)	R810S	probably damaging	Het
Ccdc17	G	A	4: 116,457,129 (GRCm39)	A538T	possibly damaging	Het
Cd93	T	C	2: 148,285,080 (GRCm39)	M89V	probably benign	Het
Clec11a	G	T	7: 43,955,323 (GRCm39)	D157E	probably benign	Het
Crtam	A	C	9: 40,895,641 (GRCm39)	D228E	probably benign	Het
Cyp2a4	A	G	7: 26,012,209 (GRCm39)	I331V	probably benign	Het
Cysltr2	T	C	14: 73,267,078 (GRCm39)	I211V	probably benign	Het
Dcaf13	T	C	15: 38,982,836 (GRCm39)	S123P	probably damaging	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Dnah1	A	T	14: 31,026,924 (GRCm39)	L700Q	probably benign	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dpyd	C	T	3: 118,935,585 (GRCm39)	S670L	probably damaging	Het
Dsg2	A	T	18: 20,708,069 (GRCm39)	I57F	possibly damaging	Het
Dzip3	A	C	16: 48,801,338 (GRCm39)	I62S	probably damaging	Het
Ern1	A	T	11: 106,312,776 (GRCm39)	S202T	probably damaging	Het
Galnt16	G	A	12: 80,644,879 (GRCm39)	V501I	probably benign	Het
Gmip	A	T	8: 70,273,134 (GRCm39)	R840S	probably benign	Het
Gna14	A	C	19: 16,585,458 (GRCm39)	I279L		Het
Irak2	T	C	6: 113,663,783 (GRCm39)	M444T	probably benign	Het
Itfg2	T	C	6: 128,389,755 (GRCm39)		probably null	Het
Kif5a	T	A	10: 127,083,909 (GRCm39)	H94L	probably damaging	Het
Kmt2e	A	G	5: 23,698,215 (GRCm39)	T636A	probably benign	Het
Krba1	T	C	6: 48,382,212 (GRCm39)	S152P	probably damaging	Het
Mad1l1	T	A	5: 140,300,822 (GRCm39)	M25L	probably benign	Het
Map7d1	T	C	4: 126,132,315 (GRCm39)	N286D	probably benign	Het
Mfrp	A	G	9: 44,014,802 (GRCm39)	K280E	probably benign	Het
Mlh3	G	T	12: 85,308,488 (GRCm39)	L1100I	probably damaging	Het
Mrgprx2	T	C	7: 48,131,778 (GRCm39)	I347V	probably benign	Het
Mtnr1b	A	T	9: 15,785,724 (GRCm39)	C11*	probably null	Het
Mx1	T	C	16: 97,252,917 (GRCm39)	E401G	probably damaging	Het
Mypn	T	C	10: 63,003,036 (GRCm39)	D367G	probably benign	Het
Nherf2	T	C	17: 24,861,233 (GRCm39)	I176V	probably damaging	Het
Or52a33	T	A	7: 103,289,059 (GRCm39)	D96V	probably damaging	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8s8	T	G	15: 98,354,929 (GRCm39)	I246R	probably damaging	Het
Or9g19	T	A	2: 85,600,307 (GRCm39)	L54H	probably damaging	Het
Plcb1	T	G	2: 135,177,369 (GRCm39)	M567R	probably damaging	Het
Plekhd1	A	T	12: 80,752,861 (GRCm39)	D109V	probably damaging	Het
Polr2e	A	G	10: 79,875,424 (GRCm39)	I17T	probably benign	Het
Pot1b	T	C	17: 55,973,537 (GRCm39)	D421G	probably benign	Het
Prkar1b	A	T	5: 139,036,451 (GRCm39)	W224R	probably damaging	Het
Psmd1	C	A	1: 86,016,585 (GRCm39)	R490S	probably damaging	Het
Pwp2	A	G	10: 78,013,659 (GRCm39)	W521R	probably damaging	Het
Rhpn2	C	A	7: 35,075,680 (GRCm39)	Q286K	probably benign	Het
Rnf103	T	A	6: 71,486,602 (GRCm39)	M411K	probably benign	Het
Scpep1	A	C	11: 88,835,298 (GRCm39)	V125G	probably damaging	Het
Serpinb9c	C	T	13: 33,335,793 (GRCm39)	V248M	probably null	Het
Snx15	T	A	19: 6,170,593 (GRCm39)	N282I	probably benign	Het
Spaca3	A	T	11: 80,758,514 (GRCm39)	D159V	probably benign	Het
Srrm4	A	G	5: 116,605,567 (GRCm39)	V230A	unknown	Het
Ssu2	T	A	6: 112,359,312 (GRCm39)	I103F	possibly damaging	Het
Strip2	T	A	6: 29,931,815 (GRCm39)	F453I	probably damaging	Het
Tac2	C	T	10: 127,564,319 (GRCm39)	P72L	possibly damaging	Het
Tiparp	T	G	3: 65,460,125 (GRCm39)	S473R	probably damaging	Het
Tmem135	C	T	7: 88,956,456 (GRCm39)	R53Q	probably damaging	Het
Tmem200b	T	A	4: 131,649,406 (GRCm39)	F109I	probably damaging	Het
Tmem245	A	T	4: 56,886,141 (GRCm39)	I825N	probably damaging	Het
Tmem63c	G	T	12: 87,103,306 (GRCm39)	V27F	probably damaging	Het
Tshz1	T	C	18: 84,033,162 (GRCm39)	I415M	probably damaging	Het
Tut4	C	G	4: 108,407,940 (GRCm39)	A1403G	probably damaging	Het
Wfdc2	T	A	2: 164,407,818 (GRCm39)	N162K	probably damaging	Het
Zeb2	T	A	2: 44,887,939 (GRCm39)	I373F	probably damaging	Het
Zfp27	T	C	7: 29,594,804 (GRCm39)	N387S	possibly damaging	Het
Zfp760	A	T	17: 21,941,356 (GRCm39)	H177L	possibly damaging	Het
Zg16	A	G	7: 126,649,518 (GRCm39)	S148P	possibly damaging	Het
Zic2	A	G	14: 122,714,129 (GRCm39)	N348D	probably benign	Het
Zswim4	A	T	8: 84,939,313 (GRCm39)	D856E	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
R8169:Foxm1	UTSW	6	128,348,671 (GRCm39)	splice site	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'- TGAAGGAATAGCCCCGCTTC -3'
(R):5'- AGGCAATGTCTCCTTGATGGG -3'

Sequencing Primer
(F):5'- AGAAACCCCTGCTTGGAGG -3'
(R):5'- GGGTCTTGAAAGGTCCTCC -3'

Posted On

2021-03-08