Mutagenetix > Incidental Mutation

Incidental Mutation 'R7806:Foxc1'

600802

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

045861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31990629-31994618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31992739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 517 (G517C)

Ref Sequence

ENSEMBL: ENSMUSP00000052196 (fasta)

Gene Model

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

AlphaFold

Q61572

Predicted Effect

unknown
Transcript: ENSMUST00000062292
AA Change: G517C

SMART Domains

Protein: ENSMUSP00000052196
Gene: ENSMUSG00000050295
AA Change: G517C

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: 99.8%
20x: 99.3%

Validation Efficiency

98% (83/85)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,569,143 (GRCm39)	V144F	probably benign	Het
Aar2	T	A	2: 156,393,031 (GRCm39)	I140N	possibly damaging	Het
Abca15	A	G	7: 119,932,059 (GRCm39)	N104S	probably damaging	Het
Adam22	A	T	5: 8,142,825 (GRCm39)	N803K	probably damaging	Het
Adk	A	G	14: 21,376,679 (GRCm39)	N26S		Het
Ak9	A	C	10: 41,309,080 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,487 (GRCm39)	D40G	probably benign	Het
Ankrd65	A	T	4: 155,877,437 (GRCm39)	H316L	probably benign	Het
Cabp7	C	T	11: 4,688,889 (GRCm39)	A194T	probably damaging	Het
Ccdc180	A	C	4: 45,912,801 (GRCm39)	K593N	possibly damaging	Het
Cd80	A	G	16: 38,294,315 (GRCm39)	D66G	probably benign	Het
Cdh5	T	C	8: 104,867,448 (GRCm39)	V575A	probably damaging	Het
Cep350	T	C	1: 155,737,809 (GRCm39)	Q2678R	probably benign	Het
Cideb	G	A	14: 55,992,625 (GRCm39)	T97M	probably damaging	Het
Clca4b	T	C	3: 144,638,157 (GRCm39)	D35G	probably benign	Het
Clpx	T	C	9: 65,207,213 (GRCm39)	V37A	probably benign	Het
Cmya5	A	C	13: 93,230,770 (GRCm39)	S1439R	probably benign	Het
Cndp2	T	A	18: 84,688,945 (GRCm39)	H279L	probably benign	Het
Cngb1	A	T	8: 96,025,432 (GRCm39)		probably null	Het
Cpq	T	A	15: 33,497,443 (GRCm39)	N394K	possibly damaging	Het
Dedd	T	C	1: 171,166,062 (GRCm39)	L60P	probably benign	Het
Dennd3	C	A	15: 73,442,624 (GRCm39)	L1216M	possibly damaging	Het
Dntt	A	T	19: 41,018,071 (GRCm39)	N65I	probably benign	Het
Fap	T	A	2: 62,333,758 (GRCm39)	E662V	probably damaging	Het
Fasn	A	T	11: 120,700,821 (GRCm39)	M2066K	probably benign	Het
Fggy	G	A	4: 95,489,203 (GRCm39)	G69E	probably benign	Het
Gas2l3	A	G	10: 89,249,232 (GRCm39)	Y629H	probably benign	Het
Gcnt2	A	G	13: 41,071,717 (GRCm39)	N120S	probably damaging	Het
Gfpt2	A	G	11: 49,714,142 (GRCm39)	T300A	probably benign	Het
Glud1	A	G	14: 34,065,606 (GRCm39)	R535G	probably damaging	Het
Gm3248	T	A	14: 5,943,883 (GRCm38)	I114L	probably benign	Het
Gm3278	G	A	14: 16,082,211 (GRCm39)		probably null	Het
Gm3402	A	C	5: 146,451,090 (GRCm39)	K44Q	probably damaging	Het
Gm3696	C	G	14: 18,433,094 (GRCm39)	R188S	probably benign	Het
Gm3696	C	A	14: 18,433,095 (GRCm39)	R188M	probably benign	Het
Gmppa	T	C	1: 75,415,581 (GRCm39)	L113P	probably damaging	Het
Gmps	A	G	3: 63,890,091 (GRCm39)		probably null	Het
Gnal	T	A	18: 67,346,145 (GRCm39)	M275K	probably damaging	Het
Gopc	G	C	10: 52,229,525 (GRCm39)	N231K	probably damaging	Het
Gpr152	T	C	19: 4,193,487 (GRCm39)	S343P	probably benign	Het
Gpr17	T	C	18: 32,080,593 (GRCm39)	I157V	probably benign	Het
Grm7	T	A	6: 111,223,314 (GRCm39)	Y451*	probably null	Het
Ikbke	T	C	1: 131,199,635 (GRCm39)	E286G	probably damaging	Het
Inpp5b	A	T	4: 124,678,881 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,818,765 (GRCm39)	L664F	probably benign	Het
Kif17	A	G	4: 138,015,507 (GRCm39)	E552G	possibly damaging	Het
Lamtor1	T	A	7: 101,555,220 (GRCm39)	Y5*	probably null	Het
Lpin2	A	G	17: 71,552,166 (GRCm39)	I829V	probably damaging	Het
Lrg1	T	G	17: 56,426,967 (GRCm39)	D335A	probably benign	Het
Lrriq3	T	C	3: 154,804,444 (GRCm39)	Y35H	probably damaging	Het
Mkx	T	A	18: 7,000,607 (GRCm39)	M112L	probably benign	Het
Mlxipl	A	C	5: 135,163,397 (GRCm39)	D760A	possibly damaging	Het
Muc6	T	C	7: 141,217,387 (GRCm39)	T2429A	possibly damaging	Het
N4bp2l2	A	G	5: 150,566,715 (GRCm39)	C134R	unknown	Het
Nanos1	A	G	19: 60,744,972 (GRCm39)	E90G	probably benign	Het
Nckap1	T	C	2: 80,371,843 (GRCm39)	D329G	probably damaging	Het
Or13a18	T	C	7: 140,190,685 (GRCm39)	I194T	probably benign	Het
Or14j9	A	C	17: 37,875,112 (GRCm39)	L30R	probably damaging	Het
Or8b12c	T	C	9: 37,715,872 (GRCm39)	S222P	probably damaging	Het
Or8g51	G	T	9: 38,609,567 (GRCm39)	L32I	probably benign	Het
Osbpl7	A	G	11: 96,946,954 (GRCm39)	H419R	probably benign	Het
Otog	C	T	7: 45,935,200 (GRCm39)	T1395I	probably benign	Het
Pigq	T	A	17: 26,150,700 (GRCm39)	I451F	probably benign	Het
Ptgfrn	A	G	3: 100,984,448 (GRCm39)	V248A	possibly damaging	Het
Rdh19	G	T	10: 127,692,740 (GRCm39)	V136L	probably damaging	Het
Rfesd	T	C	13: 76,156,308 (GRCm39)	T33A	possibly damaging	Het
Rnf213	G	A	11: 119,302,371 (GRCm39)	V432M		Het
Rpl22l1	T	A	3: 28,860,962 (GRCm39)	L60Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sbf1	A	G	15: 89,189,623 (GRCm39)	V419A	possibly damaging	Het
Serpinb6a	T	C	13: 34,119,548 (GRCm39)		probably null	Het
Slc22a4	A	G	11: 53,881,476 (GRCm39)	L414P	probably damaging	Het
Smarcd3	A	T	5: 24,798,260 (GRCm39)	V420D	probably benign	Het
Tcaim	A	G	9: 122,663,995 (GRCm39)	D495G	probably damaging	Het
Tep1	A	G	14: 51,074,266 (GRCm39)	V1873A	possibly damaging	Het
Tmcc2	T	C	1: 132,288,527 (GRCm39)	N387D	probably damaging	Het
Tmed8	A	T	12: 87,219,204 (GRCm39)	I322N	probably damaging	Het
Tmod4	A	C	3: 95,034,915 (GRCm39)	D168A	probably benign	Het
Trgc2	A	T	13: 19,491,390 (GRCm39)		probably benign	Het
Trp53bp1	C	T	2: 121,035,542 (GRCm39)	E1520K	probably damaging	Het
Trpv5	T	A	6: 41,651,867 (GRCm39)	I183F	probably damaging	Het
Vmn2r70	A	T	7: 85,208,401 (GRCm39)	I692K	probably benign	Het
Vmn2r87	T	A	10: 130,315,679 (GRCm39)	Y129F	probably benign	Het
Vps8	A	G	16: 21,278,501 (GRCm39)	D253G	probably damaging	Het
Ythdc2	T	C	18: 44,977,353 (GRCm39)	I383T	possibly damaging	Het
Ythdc2	T	C	18: 44,983,491 (GRCm39)	S553P	probably benign	Het
Zfyve26	A	G	12: 79,327,129 (GRCm39)		probably null	Het
Zic1	G	A	9: 91,247,024 (GRCm39)	T16I	probably damaging	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
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
R9645:Foxc1	UTSW	13	31,991,882 (GRCm39)	missense	probably damaging	1.00
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'- TCTTCGTCCCTGAGTCATGG -3'
(R):5'- CTGGTGTGAGGAATCTTCTCAAG -3'

Sequencing Primer
(F):5'- CCTGAGTCATGGCGGGG -3'
(R):5'- GCATTGCTGGATTCTTTTACTGTTC -3'

Posted On

2019-11-26