Mutagenetix > Incidental Mutations

Incidental Mutation 'R1489:Foxc1'

163620

Institutional Source

Beutler Lab

Gene Symbol

Foxc1

Ensembl Gene

ENSMUSG00000050295

Gene Name

forkhead box C1

Synonyms

frkhda, fkh-1, Mf1, Mf4, FREAC3, Fkh1, fkh1

MMRRC Submission

039541-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1489 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

31806633-31812476 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 31808612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 469 (R469*)

Ref Sequence

ENSEMBL: ENSMUSP00000052196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062292]

AlphaFold

Q61572

Predicted Effect

probably null
Transcript: ENSMUST00000062292
AA Change: R469*

SMART Domains

Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: R469*

Domain	Start	End	E-Value	Type
low complexity region	28	36	N/A	INTRINSIC
FH	76	166	4e-64	SMART
low complexity region	169	186	N/A	INTRINSIC
low complexity region	193	218	N/A	INTRINSIC
low complexity region	236	254	N/A	INTRINSIC
low complexity region	261	287	N/A	INTRINSIC
low complexity region	289	302	N/A	INTRINSIC
low complexity region	323	345	N/A	INTRINSIC
low complexity region	352	398	N/A	INTRINSIC
low complexity region	415	426	N/A	INTRINSIC
low complexity region	444	456	N/A	INTRINSIC
low complexity region	486	495	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

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 has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are neonatal lethal with congenital hydrocephalus, edema, abnormalities of the eye, skull, axial skeleton, kidney-ureter and cardiovascular systems. Heterozygotes have variable milder defects depending on genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,059,510	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,505,457	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,686,300		probably null	Het
Adam39	A	G	8: 40,824,994	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,491,451	S629R	probably benign	Het
Ap3b2	C	A	7: 81,463,690	E924*	probably null	Het
Armc3	A	T	2: 19,310,047	Y856F	probably benign	Het
Asap1	A	G	15: 64,172,730	L142P	probably damaging	Het
Atg9a	T	A	1: 75,186,090	D427V	probably damaging	Het
Atl2	G	A	17: 79,852,706	A17V	probably benign	Het
Atxn2l	A	T	7: 126,496,467	S379T	probably damaging	Het
C1ql3	G	T	2: 13,010,642	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,609,635	I114F	probably damaging	Het
Cox16	T	C	12: 81,474,615	N135S	probably null	Het
Dnajc13	A	T	9: 104,231,035	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,725,410	Y73*	probably null	Het
Duox2	T	A	2: 122,293,396	M436L	probably benign	Het
Exoc6	T	A	19: 37,597,120	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,812,817		probably benign	Het
Fmn1	T	A	2: 113,365,212	V419E	unknown	Het
Fndc4	T	C	5: 31,293,451	*232W	probably null	Het
Fsip2	A	G	2: 82,979,811	H2158R	probably benign	Het
Ghdc	C	T	11: 100,768,257	G373D	probably benign	Het
Gm10330	A	T	12: 23,780,031	S50T	probably benign	Het
Gm8251	A	G	1: 44,057,790	F1383L	probably benign	Het
Gm8251	T	C	1: 44,061,507	I144V	probably benign	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,222,954	V650A	probably damaging	Het
Map1a	T	C	2: 121,300,437	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,393,906	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,027,519	K175R	probably benign	Het
Mia3	A	G	1: 183,338,674	S85P	probably benign	Het
Myrip	T	C	9: 120,432,529	F403L	probably damaging	Het
Nox4	A	G	7: 87,304,889	Y134C	probably damaging	Het
Numb	A	G	12: 83,795,443	L642P	probably damaging	Het
Pappa	A	T	4: 65,180,948	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,677,712	L333P	probably benign	Het
Prl	A	T	13: 27,057,636	S3C	probably damaging	Het
Ptprc	T	C	1: 138,120,086	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Smpd1	T	C	7: 105,556,554		probably null	Het
Spta1	A	G	1: 174,231,325	E1942G	probably damaging	Het
Tmem38a	A	G	8: 72,579,635	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,507,525	Y232*	probably null	Het
Tpte	T	C	8: 22,349,389		probably null	Het
Virma	T	C	4: 11,521,164	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,754,556	Q216*	probably null	Het
Zswim3	T	C	2: 164,819,981	V127A	probably benign	Het

Other mutations in Foxc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01859:Foxc1	APN	13	31808723	missense	unknown
R0369:Foxc1	UTSW	13	31807512	missense	probably damaging	0.99
R1217:Foxc1	UTSW	13	31808685	missense	unknown
R1696:Foxc1	UTSW	13	31808799	missense	unknown
R1884:Foxc1	UTSW	13	31807665	missense	probably damaging	0.98
R2163:Foxc1	UTSW	13	31808603	missense	unknown
R2442:Foxc1	UTSW	13	31808798	missense	unknown
R4210:Foxc1	UTSW	13	31807707	missense	probably damaging	1.00
R5562:Foxc1	UTSW	13	31807590	missense	probably damaging	1.00
R5717:Foxc1	UTSW	13	31807488	missense	probably benign	0.25
R6865:Foxc1	UTSW	13	31808853	missense	unknown
R7289:Foxc1	UTSW	13	31807260	missense	probably damaging	1.00
R7397:Foxc1	UTSW	13	31807635	missense	probably damaging	0.98
R7469:Foxc1	UTSW	13	31808378	missense	unknown
R7469:Foxc1	UTSW	13	31808379	missense	unknown
R7763:Foxc1	UTSW	13	31808028	missense	probably benign	0.23
R7806:Foxc1	UTSW	13	31808756	missense	unknown
R8350:Foxc1	UTSW	13	31807565	nonsense	probably null
R8429:Foxc1	UTSW	13	31807776	missense	probably benign
R8529:Foxc1	UTSW	13	31808537	missense	unknown
R8530:Foxc1	UTSW	13	31807788	missense	probably benign	0.00
R8849:Foxc1	UTSW	13	31808834	missense	unknown
R8894:Foxc1	UTSW	13	31808222	missense	unknown
X0063:Foxc1	UTSW	13	31807556	missense	probably benign	0.14
Z1177:Foxc1	UTSW	13	31807308	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TCAGCGTGGACAACATCATGACG -3'
(R):5'- GCCGGGAATAGGGTCAGAATTTGC -3'

Sequencing Primer
(F):5'- AGGCTATGAGCCTGTACGC -3'
(R):5'- AGGGTCAGAATTTGCTACAGTC -3'

Posted On

2014-03-28