Mutagenetix > Incidental Mutation

Incidental Mutation 'R8234:Foxc2'

637269

Institutional Source

Beutler Lab

Gene Symbol

Foxc2

Ensembl Gene

ENSMUSG00000046714

Gene Name

forkhead box C2

Synonyms

Fkh14, Mfh1, MFH-1, Hfhbf3

MMRRC Submission

067666-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121842910-121845634 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121844777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 475 (R475Q)

Ref Sequence

ENSEMBL: ENSMUSP00000055290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054691] [ENSMUST00000127664]

AlphaFold

Q61850

Predicted Effect

probably damaging
Transcript: ENSMUST00000054691
AA Change: R475Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055290
Gene: ENSMUSG00000046714
AA Change: R475Q

Domain	Start	End	E-Value	Type
FH	69	159	2.11e-63	SMART
low complexity region	162	179	N/A	INTRINSIC
low complexity region	203	220	N/A	INTRINSIC
low complexity region	288	312	N/A	INTRINSIC
low complexity region	379	417	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die perinatally or before with cardiac abnormalities and skeletal defects in the neurocranium and spine. Heterozygotes exhibit lymphatic vessel and lymph node hyperplasia, anterior segment defects, and distichiasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	A	14: 54,499,133 (GRCm39)	M38K	probably benign	Het
Ackr1	T	A	1: 173,159,582 (GRCm39)	R312S	probably benign	Het
Akap9	T	C	5: 4,094,845 (GRCm39)	V2213A	probably benign	Het
Alox5	T	A	6: 116,390,835 (GRCm39)	R439W	probably damaging	Het
Atrn	A	T	2: 130,864,920 (GRCm39)		probably null	Het
Casd1	A	G	6: 4,601,209 (GRCm39)	N14S	probably damaging	Het
Cry2	T	C	2: 92,242,974 (GRCm39)	S542G	probably benign	Het
Cyb5rl	A	G	4: 106,925,935 (GRCm39)	Y39C	probably damaging	Het
Dmpk	A	T	7: 18,822,048 (GRCm39)	K335N	probably benign	Het
Dnai1	A	G	4: 41,625,221 (GRCm39)	D395G	probably benign	Het
Dock4	C	T	12: 40,884,837 (GRCm39)		probably null	Het
Eif1ad5	A	T	12: 87,940,508 (GRCm39)	I71L	noncoding transcript	Het
Fmo4	T	C	1: 162,632,757 (GRCm39)	D198G	probably damaging	Het
Gipr	C	A	7: 18,898,533 (GRCm39)	G37V	unknown	Het
Gpat3	T	C	5: 101,005,076 (GRCm39)		probably null	Het
Hcn4	A	G	9: 58,751,433 (GRCm39)	D353G	unknown	Het
Hectd4	T	A	5: 121,477,607 (GRCm39)	N2843K	possibly damaging	Het
Hmcn1	C	T	1: 150,469,761 (GRCm39)	V4973M	possibly damaging	Het
Il20rb	C	T	9: 100,341,263 (GRCm39)	S281N	probably benign	Het
Kcnh4	A	T	11: 100,643,093 (GRCm39)	N391K	possibly damaging	Het
Kitl	A	G	10: 99,887,708 (GRCm39)	T6A	probably damaging	Het
Krt36	A	G	11: 99,995,027 (GRCm39)	Y182H	probably damaging	Het
Lrp1b	T	G	2: 41,202,668 (GRCm39)	I1262L		Het
Mtf1	A	G	4: 124,738,039 (GRCm39)	E644G	probably benign	Het
Mtx2	A	G	2: 74,699,706 (GRCm39)	Y159C	probably damaging	Het
Nags	C	T	11: 102,039,824 (GRCm39)	S504F	probably damaging	Het
Ncam1	A	T	9: 49,456,523 (GRCm39)	F475L	probably damaging	Het
Nipal2	G	T	15: 34,600,178 (GRCm39)	T213N	possibly damaging	Het
Or52m1	T	A	7: 102,289,678 (GRCm39)	L75Q	probably damaging	Het
Or8h8	A	G	2: 86,753,313 (GRCm39)	S188P	probably damaging	Het
Pkm	T	C	9: 59,577,882 (GRCm39)	V233A	possibly damaging	Het
Pros1	T	A	16: 62,748,540 (GRCm39)	I671N	possibly damaging	Het
Rasd1	T	C	11: 59,855,118 (GRCm39)	I121V	probably damaging	Het
Relch	T	C	1: 105,681,235 (GRCm39)	S1180P	possibly damaging	Het
Samhd1	A	G	2: 156,958,270 (GRCm39)		probably null	Het
Serpinb9f	A	T	13: 33,509,898 (GRCm39)	Y30F	probably benign	Het
Slc5a10	T	C	11: 61,564,107 (GRCm39)	I543V	probably benign	Het
Stat5a	A	G	11: 100,770,129 (GRCm39)	I469V	possibly damaging	Het
Sugct	T	C	13: 17,032,459 (GRCm39)	E431G	probably benign	Het
Tecr	C	A	8: 84,299,880 (GRCm39)	R133L	possibly damaging	Het
Tiparp	A	G	3: 65,439,002 (GRCm39)	N106S	probably benign	Het
Triml1	T	C	8: 43,594,285 (GRCm39)	S49G	probably benign	Het
Trpm3	T	A	19: 22,692,640 (GRCm39)	S244T	possibly damaging	Het
Ttn	T	C	2: 76,553,324 (GRCm39)	D31055G	probably damaging	Het
Vcp	A	T	4: 42,985,242 (GRCm39)	I369N	probably damaging	Het
Vmn2r110	A	C	17: 20,804,691 (GRCm39)	N76K	probably benign	Het
Vmn2r12	T	C	5: 109,234,074 (GRCm39)	T713A	probably benign	Het
Vmn2r17	A	T	5: 109,601,235 (GRCm39)	K844N	probably benign	Het

Other mutations in Foxc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02612:Foxc2	APN	8	121,844,576 (GRCm39)	missense	probably benign	0.10
IGL02973:Foxc2	APN	8	121,844,788 (GRCm39)	missense	probably benign
R0211:Foxc2	UTSW	8	121,843,355 (GRCm39)	start codon destroyed	probably null	0.77
R0477:Foxc2	UTSW	8	121,844,774 (GRCm39)	missense	probably damaging	0.99
R1589:Foxc2	UTSW	8	121,843,915 (GRCm39)	missense	probably benign
R1859:Foxc2	UTSW	8	121,843,364 (GRCm39)	missense	probably damaging	0.98
R1965:Foxc2	UTSW	8	121,843,413 (GRCm39)	missense	probably damaging	0.99
R2104:Foxc2	UTSW	8	121,844,819 (GRCm39)	missense	probably damaging	1.00
R4274:Foxc2	UTSW	8	121,844,439 (GRCm39)	missense	probably benign	0.30
R4392:Foxc2	UTSW	8	121,844,191 (GRCm39)	missense	probably damaging	0.98
R7678:Foxc2	UTSW	8	121,844,834 (GRCm39)	missense	probably damaging	1.00
R7707:Foxc2	UTSW	8	121,844,641 (GRCm39)	missense	probably benign	0.00
R8123:Foxc2	UTSW	8	121,843,601 (GRCm39)	missense	probably damaging	1.00
Z1088:Foxc2	UTSW	8	121,843,889 (GRCm39)	missense	probably damaging	0.99
Z1088:Foxc2	UTSW	8	121,843,698 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCACCTCCTGGTATCTGAAC -3'
(R):5'- ACTGAGCTGCGGATAAGTTACC -3'

Sequencing Primer
(F):5'- TCCTGGTATCTGAACCACGG -3'
(R):5'- CTGCGGATAAGTTACCTGCGAG -3'

Posted On

2020-07-13