Mutagenetix > Incidental Mutation

Incidental Mutation 'R9142:Foxm1'

694387

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

068934-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128339957-128352849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128344298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 182 (I182N)

Ref Sequence

ENSEMBL: ENSMUSP00000073041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057421] [ENSMUST00000073316] [ENSMUST00000112148] [ENSMUST00000112151] [ENSMUST00000112152] [ENSMUST00000155573] [ENSMUST00000203040] [ENSMUST00000203719]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057421

SMART Domains

Protein: ENSMUSP00000054573
Gene: ENSMUSG00000048668

Domain	Start	End	E-Value	Type
Pfam:RHINO	1	233	1.1e-96	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073316
AA Change: I182N

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

SMART Domains

Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517
AA Change: I182N

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 damaging
Transcript: ENSMUST00000112148
AA Change: I182N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107776
Gene: ENSMUSG00000001517
AA Change: I182N

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: ENSMUST00000112151

SMART Domains

Protein: ENSMUSP00000107778
Gene: ENSMUSG00000048668

Domain	Start	End	E-Value	Type
Pfam:RHINO	1	233	1.4e-107	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112152

SMART Domains

Protein: ENSMUSP00000107779
Gene: ENSMUSG00000048668

Domain	Start	End	E-Value	Type
Pfam:RHINO	1	233	1.4e-107	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155573

SMART Domains

Protein: ENSMUSP00000114836
Gene: ENSMUSG00000048668

Domain	Start	End	E-Value	Type
Pfam:RHINO	1	121	3.6e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203040
AA Change: I28N

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

SMART Domains

Protein: ENSMUSP00000145305
Gene: ENSMUSG00000001517
AA Change: I28N

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 damaging
Transcript: ENSMUST00000203258
AA Change: I16N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203719

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	C	A	4: 126,215,360 (GRCm39)	G35V	probably damaging	Het
Apob	A	C	12: 8,062,705 (GRCm39)	D3729A	possibly damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Arap3	G	A	18: 38,112,934 (GRCm39)	A1092V	possibly damaging	Het
Arid3a	T	C	10: 79,787,612 (GRCm39)	S550P	unknown	Het
Armc2	T	G	10: 41,851,404 (GRCm39)	E259D	probably benign	Het
Atp13a2	A	G	4: 140,729,364 (GRCm39)	D566G	probably damaging	Het
Bnc2	A	G	4: 84,474,111 (GRCm39)	C12R	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cc2d2b	C	T	19: 40,753,845 (GRCm39)	R123*	probably null	Het
Cdc37l1	T	A	19: 28,989,402 (GRCm39)	H286Q	possibly damaging	Het
Cfap54	A	T	10: 92,820,097 (GRCm39)	L1239Q	possibly damaging	Het
Cfap58	T	C	19: 47,974,993 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,706,566 (GRCm39)	D2789E	unknown	Het
Ctnna2	G	T	6: 76,879,423 (GRCm39)		probably benign	Het
Dazl	A	G	17: 50,590,178 (GRCm39)	V271A	probably benign	Het
Dennd4c	A	T	4: 86,755,637 (GRCm39)	N1610Y	probably benign	Het
Dusp13b	T	A	14: 21,792,756 (GRCm39)	K56N	probably benign	Het
Erbb2	T	A	11: 98,312,884 (GRCm39)	I149N	probably damaging	Het
Erbb4	A	T	1: 68,388,552 (GRCm39)	C217S	probably damaging	Het
Fbxw21	A	G	9: 108,985,413 (GRCm39)	C122R	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Ggnbp2	T	C	11: 84,730,886 (GRCm39)	N381S	possibly damaging	Het
Gja3	T	C	14: 57,274,048 (GRCm39)	E108G	probably benign	Het
Gm40460	C	A	7: 141,794,499 (GRCm39)	G106V	unknown	Het
Gm9736	A	G	10: 77,586,849 (GRCm39)	C114R	unknown	Het
Gpbp1	A	T	13: 111,563,033 (GRCm39)	D492E	unknown	Het
Gper1	T	C	5: 139,412,312 (GRCm39)	V219A	possibly damaging	Het
Gtf2e1	C	T	16: 37,356,364 (GRCm39)	R56Q	probably benign	Het
H2ac10	T	C	13: 23,718,151 (GRCm39)	L24P	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Kat6a	T	A	8: 23,430,072 (GRCm39)	M1809K	unknown	Het
Kdm2b	A	T	5: 123,127,112 (GRCm39)		probably benign	Het
Kif7	A	T	7: 79,356,585 (GRCm39)	M702K	probably benign	Het
Lrrtm4	T	A	6: 79,999,426 (GRCm39)	N279K	probably damaging	Het
Mcrip1	G	A	11: 120,435,542 (GRCm39)	P31L	probably damaging	Het
Mettl25b	A	G	3: 87,831,195 (GRCm39)	I444T	probably benign	Het
Nf1	T	A	11: 79,362,315 (GRCm39)	S1497R	probably damaging	Het
Nf1	T	A	11: 79,366,688 (GRCm39)	I1607N	probably damaging	Het
Nrde2	G	T	12: 100,117,518 (GRCm39)	T47K	probably benign	Het
Or5w12	C	T	2: 87,502,313 (GRCm39)	V133I	probably benign	Het
Or6b2b	T	G	1: 92,419,411 (GRCm39)	E22A	probably benign	Het
Or6c1	T	C	10: 129,518,285 (GRCm39)	T108A	probably benign	Het
Ppargc1a	G	A	5: 51,652,146 (GRCm39)	T184I	possibly damaging	Het
Ppp1r15a	T	C	7: 45,173,920 (GRCm39)	D296G	probably damaging	Het
Prl7c1	C	T	13: 27,964,751 (GRCm39)		probably benign	Het
Prss42	G	T	9: 110,628,228 (GRCm39)	R124L	possibly damaging	Het
Psmd1	T	G	1: 86,064,817 (GRCm39)	Y950D	probably damaging	Het
Ptprr	A	T	10: 116,024,119 (GRCm39)	L250F	possibly damaging	Het
Rabgef1	T	A	5: 130,237,554 (GRCm39)	M208K	possibly damaging	Het
Rps6ka2	A	G	17: 7,437,793 (GRCm39)	Y17C	probably damaging	Het
Scart2	T	A	7: 139,877,806 (GRCm39)	D929E	probably damaging	Het
Sec23ip	T	A	7: 128,363,226 (GRCm39)	C463S	probably damaging	Het
Serpina3n	A	G	12: 104,379,710 (GRCm39)	T368A	probably damaging	Het
Sez6l	C	T	5: 112,609,083 (GRCm39)	A589T	probably benign	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,192,823 (GRCm39)	Y52N	possibly damaging	Het
Tenm3	G	A	8: 48,788,548 (GRCm39)	S494L	unknown	Het
Top3b	T	C	16: 16,701,299 (GRCm39)	Y204H	probably damaging	Het
Trim43b	C	T	9: 88,973,452 (GRCm39)	V94M	possibly damaging	Het
Trps1	T	G	15: 50,524,658 (GRCm39)	I1091L	probably damaging	Het
Ttk	G	A	9: 83,725,741 (GRCm39)	R221Q	probably damaging	Het
Ttn	A	C	2: 76,549,466 (GRCm39)	M31737R	probably damaging	Het
Uso1	T	A	5: 92,335,125 (GRCm39)	L495*	probably null	Het
Usp19	A	G	9: 108,372,284 (GRCm39)	D447G	possibly damaging	Het
Zdhhc2	A	G	8: 40,920,563 (GRCm39)	E274G	probably damaging	Het
Zfp106	T	A	2: 120,350,935 (GRCm39)	Y1595F	probably damaging	Het
Zfp932	A	T	5: 110,157,520 (GRCm39)	H406L	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
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
R8750:Foxm1	UTSW	6	128,350,206 (GRCm39)	nonsense	probably null
R8844:Foxm1	UTSW	6	128,350,439 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCACAACGATTTACCATGC -3'
(R):5'- GTGCTAACAGAACTTGGATGTTGTTC -3'

Sequencing Primer
(F):5'- ACAACGATTTACCATGCATTCG -3'
(R):5'- ACAGAACTTGGATGTTGTTCCAGTAG -3'

Posted On

2022-01-20