Mutagenetix > Incidental Mutation

Incidental Mutation 'R9645:Foxc1'

726234

Institutional Source

Beutler Lab

Gene Symbol

Foxc1

Ensembl Gene

ENSMUSG00000050295

Gene Name

forkhead box C1

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9645 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

31990629-31994618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31991882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 231 (E231V)

Ref Sequence

ENSEMBL: ENSMUSP00000052196 (fasta)

Gene Model

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

AlphaFold

Q61572

Predicted Effect

probably damaging
Transcript: ENSMUST00000062292
AA Change: E231V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: E231V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,644,793 (GRCm39)	V226A	probably benign	Het
Acan	G	T	7: 78,749,653 (GRCm39)	V1475F	probably benign	Het
Acin1	T	A	14: 54,901,913 (GRCm39)	R626S	probably benign	Het
Aff3	T	C	1: 38,249,121 (GRCm39)	K662R	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Ano9	T	G	7: 140,687,388 (GRCm39)	N309T	probably benign	Het
Ap3d1	G	A	10: 80,545,062 (GRCm39)	S1092L	probably benign	Het
B4galt7	C	T	13: 55,756,556 (GRCm39)	H257Y	probably damaging	Het
BC051665	G	T	13: 60,932,545 (GRCm39)	Q47K	possibly damaging	Het
Brip1	A	G	11: 85,952,512 (GRCm39)	F1090L	probably benign	Het
Cabin1	A	G	10: 75,494,543 (GRCm39)	V1612A	probably benign	Het
Ccar1	A	T	10: 62,602,369 (GRCm39)	D434E	probably benign	Het
Ccdc15	T	C	9: 37,227,083 (GRCm39)	D297G	probably benign	Het
Celsr3	C	A	9: 108,704,691 (GRCm39)	Y391*	probably null	Het
Cfap52	A	G	11: 67,837,179 (GRCm39)	I194T	possibly damaging	Het
Ctif	T	C	18: 75,757,352 (GRCm39)	E67G	probably benign	Het
Cxcr6	T	C	9: 123,639,151 (GRCm39)	F58L	possibly damaging	Het
Cyp2c69	T	C	19: 39,869,593 (GRCm39)	E142G	probably damaging	Het
Dnah6	T	A	6: 73,115,750 (GRCm39)	R1549S	possibly damaging	Het
Duxf3	A	T	10: 58,066,803 (GRCm39)	H75Q	probably benign	Het
Ehbp1	A	T	11: 22,051,052 (GRCm39)	I500N	probably damaging	Het
F13a1	A	T	13: 37,082,154 (GRCm39)	S517T	probably benign	Het
Fbln7	C	T	2: 128,719,316 (GRCm39)	R38C	probably damaging	Het
Fn1	T	C	1: 71,667,629 (GRCm39)	N788S	probably benign	Het
Gal3st2b	T	C	1: 93,866,328 (GRCm39)	S10P	probably damaging	Het
Gm6899	G	A	11: 26,543,592 (GRCm39)	C53Y	unknown	Het
Hps3	T	C	3: 20,084,831 (GRCm39)	E119G	probably benign	Het
Impg2	A	G	16: 56,038,767 (GRCm39)	E135G	probably damaging	Het
Kalrn	G	A	16: 34,032,583 (GRCm39)	T1155M	probably benign	Het
Kcna6	G	A	6: 126,716,022 (GRCm39)	A289V	probably benign	Het
Kcnh5	T	C	12: 75,134,191 (GRCm39)	M453V	probably benign	Het
Krt222	A	G	11: 99,131,320 (GRCm39)	V75A	possibly damaging	Het
Lmtk3	A	T	7: 45,450,431 (GRCm39)	T1432S	unknown	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltbp3	C	G	19: 5,802,099 (GRCm39)	N758K	probably damaging	Het
Map6d1	T	A	16: 20,055,377 (GRCm39)	H153L	possibly damaging	Het
Mefv	A	G	16: 3,528,782 (GRCm39)	L583P	probably damaging	Het
Mrps28	T	C	3: 8,867,389 (GRCm39)	T160A	probably damaging	Het
Mtcl2	T	C	2: 156,869,390 (GRCm39)	K1082E	probably damaging	Het
Muc6	T	C	7: 141,217,783 (GRCm39)	T2297A	possibly damaging	Het
Mx1	G	T	16: 97,253,409 (GRCm39)	D338E	probably benign	Het
Myom1	G	A	17: 71,399,204 (GRCm39)	R1120H	probably benign	Het
Nif3l1	T	C	1: 58,487,074 (GRCm39)	F87L	probably benign	Het
Or1e35	T	A	11: 73,797,713 (GRCm39)	M202L	probably benign	Het
Or4p22	T	C	2: 88,317,373 (GRCm39)	V99A	possibly damaging	Het
Pex10	T	A	4: 155,153,264 (GRCm39)	L111Q	probably damaging	Het
Phf1	T	C	17: 27,154,130 (GRCm39)		probably null	Het
Pigp	A	T	16: 94,166,278 (GRCm39)	Y143*	probably null	Het
Pou2af2	A	G	9: 51,229,579 (GRCm39)		probably null	Het
Prrc2a	A	G	17: 35,381,176 (GRCm39)		probably null	Het
Psd	GCC	GC	19: 46,301,841 (GRCm39)		probably null	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rab12	A	G	17: 66,826,421 (GRCm39)	S97P	probably damaging	Het
Rigi	T	C	4: 40,220,437 (GRCm39)	E482G	possibly damaging	Het
Ros1	A	G	10: 51,948,148 (GRCm39)		probably null	Het
Scp2	A	T	4: 107,948,519 (GRCm39)	Y197N	probably benign	Het
Serpinb10	T	C	1: 107,474,488 (GRCm39)	F217L	possibly damaging	Het
Shank3	T	G	15: 89,409,453 (GRCm39)	M604R	possibly damaging	Het
Slc22a29	A	G	19: 8,184,488 (GRCm39)	S238P	probably benign	Het
Smarcc1	A	G	9: 109,986,410 (GRCm39)	D237G	probably damaging	Het
Stag3	T	C	5: 138,299,701 (GRCm39)	S871P	possibly damaging	Het
Tmem132d	A	G	5: 128,346,075 (GRCm39)	F149S	probably damaging	Het
Tmem25	C	T	9: 44,706,515 (GRCm39)	E333K		Het
Togaram1	T	A	12: 65,066,082 (GRCm39)	Y1695*	probably null	Het
Tox3	G	A	8: 90,984,574 (GRCm39)	P202S	probably damaging	Het
Trim34b	T	A	7: 103,980,474 (GRCm39)	N187K	probably benign	Het
Vcan	A	G	13: 89,841,081 (GRCm39)	S1488P	probably benign	Het
Vps26a	A	C	10: 62,305,791 (GRCm39)	V124G	probably benign	Het
Vps50	T	G	6: 3,516,706 (GRCm39)	S63A	possibly damaging	Het
Wbp4	T	A	14: 79,707,553 (GRCm39)	E186V	possibly damaging	Het
Zfp52	A	G	17: 21,781,937 (GRCm39)	D595G	possibly damaging	Het
Zfr2	C	A	10: 81,084,252 (GRCm39)	S1*	probably null	Het

Other mutations in Foxc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01859:Foxc1	APN	13	31,992,706 (GRCm39)	missense	unknown
R0369:Foxc1	UTSW	13	31,991,495 (GRCm39)	missense	probably damaging	0.99
R1217:Foxc1	UTSW	13	31,992,668 (GRCm39)	missense	unknown
R1489:Foxc1	UTSW	13	31,992,595 (GRCm39)	nonsense	probably null
R1696:Foxc1	UTSW	13	31,992,782 (GRCm39)	missense	unknown
R1884:Foxc1	UTSW	13	31,991,648 (GRCm39)	missense	probably damaging	0.98
R2163:Foxc1	UTSW	13	31,992,586 (GRCm39)	missense	unknown
R2442:Foxc1	UTSW	13	31,992,781 (GRCm39)	missense	unknown
R4210:Foxc1	UTSW	13	31,991,690 (GRCm39)	missense	probably damaging	1.00
R5562:Foxc1	UTSW	13	31,991,573 (GRCm39)	missense	probably damaging	1.00
R5717:Foxc1	UTSW	13	31,991,471 (GRCm39)	missense	probably benign	0.25
R6865:Foxc1	UTSW	13	31,992,836 (GRCm39)	missense	unknown
R7289:Foxc1	UTSW	13	31,991,243 (GRCm39)	missense	probably damaging	1.00
R7397:Foxc1	UTSW	13	31,991,618 (GRCm39)	missense	probably damaging	0.98
R7469:Foxc1	UTSW	13	31,992,362 (GRCm39)	missense	unknown
R7469:Foxc1	UTSW	13	31,992,361 (GRCm39)	missense	unknown
R7763:Foxc1	UTSW	13	31,992,011 (GRCm39)	missense	probably benign	0.23
R7806:Foxc1	UTSW	13	31,992,739 (GRCm39)	missense	unknown
R8350:Foxc1	UTSW	13	31,991,548 (GRCm39)	nonsense	probably null
R8429:Foxc1	UTSW	13	31,991,759 (GRCm39)	missense	probably benign
R8529:Foxc1	UTSW	13	31,992,520 (GRCm39)	missense	unknown
R8530:Foxc1	UTSW	13	31,991,771 (GRCm39)	missense	probably benign	0.00
R8849:Foxc1	UTSW	13	31,992,817 (GRCm39)	missense	unknown
R8894:Foxc1	UTSW	13	31,992,205 (GRCm39)	missense	unknown
R9588:Foxc1	UTSW	13	31,992,587 (GRCm39)	missense	unknown
R9614:Foxc1	UTSW	13	31,991,863 (GRCm39)	missense	possibly damaging	0.92
R9707:Foxc1	UTSW	13	31,991,882 (GRCm39)	missense	probably damaging	1.00
X0063:Foxc1	UTSW	13	31,991,539 (GRCm39)	missense	probably benign	0.14
Z1177:Foxc1	UTSW	13	31,991,291 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TGTTCGAGAACGGCAGCTTC -3'
(R):5'- TGATGTTGTCCACGCTGAAGC -3'

Sequencing Primer
(F):5'- CGGCGGCGCTTCAAGAAG -3'
(R):5'- TTCTGCAGCGTCCAGGC -3'

Posted On

2022-09-12