Mutagenetix > Incidental Mutation

Incidental Mutation 'R7678:Foxc2'

592586

Institutional Source

Beutler Lab

Gene Symbol

Foxc2

Ensembl Gene

ENSMUSG00000046714

Gene Name

forkhead box C2

Synonyms

Fkh14, Mfh1, MFH-1, Hfhbf3

MMRRC Submission

045745-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121842910-121845634 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121844834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 494 (Y494C)

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: Y494C

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

SMART Domains

Protein: ENSMUSP00000055290
Gene: ENSMUSG00000046714
AA Change: Y494C

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

Meta Mutation Damage Score

0.1433

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	A	5: 8,137,750 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,607,074 (GRCm39)	D1325G	probably damaging	Het
Asxl1	T	C	2: 153,242,572 (GRCm39)	S1042P	probably damaging	Het
Bpifb1	C	T	2: 154,044,649 (GRCm39)	H39Y	possibly damaging	Het
Capn13	C	A	17: 73,622,300 (GRCm39)	M663I	probably damaging	Het
Cemip2	C	A	19: 21,775,480 (GRCm39)	T241K	probably damaging	Het
Clec2g	A	G	6: 128,956,400 (GRCm39)	E72G	probably damaging	Het
Col12a1	T	A	9: 79,558,768 (GRCm39)	Y1899F	probably damaging	Het
Ctbp2	A	G	7: 132,616,353 (GRCm39)	V194A	probably benign	Het
Cttnbp2	G	T	6: 18,382,809 (GRCm39)	L1320I	probably damaging	Het
E2f2	T	A	4: 135,920,137 (GRCm39)	L374*	probably null	Het
Echdc3	C	T	2: 6,217,687 (GRCm39)	G29S	probably benign	Het
Ecm1	A	G	3: 95,643,494 (GRCm39)	S269P	probably damaging	Het
Elmo2	G	A	2: 165,133,664 (GRCm39)	P775S	unknown	Het
Eno3	T	A	11: 70,549,993 (GRCm39)		probably null	Het
Faf1	G	A	4: 109,687,061 (GRCm39)	R267K	probably benign	Het
Fam162a	G	A	16: 35,870,307 (GRCm39)		probably benign	Het
Fam178b	T	A	1: 36,603,532 (GRCm39)	D473V	probably damaging	Het
Fat2	G	A	11: 55,173,156 (GRCm39)	T2519I	probably damaging	Het
Gcnt2	C	A	13: 41,107,195 (GRCm39)	Q355K	probably benign	Het
Glg1	G	T	8: 111,905,497 (GRCm39)	H595N	probably benign	Het
Gm9913	A	T	2: 125,348,480 (GRCm39)	H97L	unknown	Het
Hbegf	T	A	18: 36,640,601 (GRCm39)	N152I	possibly damaging	Het
Hipk1	G	A	3: 103,667,866 (GRCm39)	T567I	probably damaging	Het
Idh3a	C	T	9: 54,502,453 (GRCm39)	P78S	probably damaging	Het
Igsf10	A	T	3: 59,226,761 (GRCm39)	M2304K	possibly damaging	Het
Inf2	A	G	12: 112,573,428 (GRCm39)	T723A	unknown	Het
Itpr2	A	T	6: 146,089,048 (GRCm39)	F2220Y	probably benign	Het
Kpnb1	C	T	11: 97,059,999 (GRCm39)	R557Q	probably damaging	Het
Lefty1	A	G	1: 180,764,325 (GRCm39)	D155G	probably damaging	Het
Lrp1	A	G	10: 127,409,922 (GRCm39)	C1554R	probably damaging	Het
Lrrc10	A	G	10: 116,881,662 (GRCm39)	D112G	probably benign	Het
Med12l	A	G	3: 58,984,141 (GRCm39)	E439G	probably damaging	Het
Ms4a7	A	T	19: 11,301,868 (GRCm39)	F185Y	probably benign	Het
Mtmr6	T	A	14: 60,527,101 (GRCm39)	M234K	probably damaging	Het
Myh7b	C	A	2: 155,459,698 (GRCm39)		probably null	Het
Myo1d	T	C	11: 80,567,719 (GRCm39)	M254V	possibly damaging	Het
Nbas	T	C	12: 13,465,662 (GRCm39)	V1368A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Neb	A	G	2: 52,096,714 (GRCm39)	V4999A	probably damaging	Het
Npbwr1	G	T	1: 5,986,927 (GRCm39)	Q196K	probably benign	Het
Nsd3	A	T	8: 26,149,833 (GRCm39)	E339D	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or11g1	T	C	14: 50,651,471 (GRCm39)	F157L	probably damaging	Het
Or6c206	A	G	10: 129,096,937 (GRCm39)	S36G	probably damaging	Het
Or7d11	T	C	9: 19,965,901 (GRCm39)	N168S	probably damaging	Het
Plxna1	C	T	6: 89,308,882 (GRCm39)	V1199M	probably damaging	Het
Ppfibp2	T	A	7: 107,315,873 (GRCm39)	M285K	probably damaging	Het
Ppip5k1	A	G	2: 121,168,142 (GRCm39)	Y704H	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sbspon	T	C	1: 15,929,282 (GRCm39)	M170V	probably benign	Het
Scfd2	A	C	5: 74,619,297 (GRCm39)	F440V	probably benign	Het
Slc22a19	T	A	19: 7,688,302 (GRCm39)	D86V	possibly damaging	Het
Smg5	A	G	3: 88,261,202 (GRCm39)	N685S	possibly damaging	Het
Spata46	A	G	1: 170,139,333 (GRCm39)	R111G	possibly damaging	Het
Sry	A	T	Y: 2,663,248 (GRCm39)	D137E	possibly damaging	Het
Tbkbp1	T	C	11: 97,040,309 (GRCm39)	D35G	probably damaging	Het
Tcf20	A	T	15: 82,735,766 (GRCm39)	V1895D	possibly damaging	Het
Tfap4	G	T	16: 4,369,630 (GRCm39)	Q112K	possibly damaging	Het
Trmt10c	T	A	16: 55,855,302 (GRCm39)	D111V	probably benign	Het
Unc80	T	C	1: 66,688,881 (GRCm39)	I2415T	probably benign	Het
Vmn2r107	A	T	17: 20,576,901 (GRCm39)	M300L	probably benign	Het
Vmn2r5	A	T	3: 64,416,943 (GRCm39)	F72I	probably benign	Het
Vmn2r53	T	A	7: 12,332,425 (GRCm39)	H408L	probably benign	Het
Zan	C	T	5: 137,461,802 (GRCm39)	V1126M	unknown	Het
Zfp493	A	T	13: 67,927,814 (GRCm39)		probably benign	Het
Zfp618	C	A	4: 63,004,858 (GRCm39)	A86E	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
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
R8234:Foxc2	UTSW	8	121,844,777 (GRCm39)	missense	probably damaging	0.99
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'- CCTCCTGGTATCTGAACCAC -3'
(R):5'- CTCAAACTGAGCTGCGGATAAG -3'

Sequencing Primer
(F):5'- GGCCACACGTTTGCAAC -3'
(R):5'- AGCTGCGGATAAGTTACCTGC -3'

Posted On

2019-11-12