|Institutional Source||Beutler Lab|
|Gene Name||forkhead box C1|
|Synonyms||frkhda, fkh-1, Mf1, Mf4, FREAC3, Fkh1, fkh1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5717 (G1)|
|Chromosomal Location||31806633-31812476 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 31807488 bp|
|Amino Acid Change||Alanine to Valine at position 94 (A94V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052196 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062292]|
|Predicted Effect||probably benign
AA Change: A94V
PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: A94V
|Meta Mutation Damage Score||0.252|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
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||
|Other mutations in Foxc1||
(F):5'- GTTGATCCGAACGTTCCTCC -3'
(R):5'- AACATGTTGTAGGAGTCCGGG -3'
(F):5'- AGAGCTACTATCGCGCTGC -3'
(R):5'- TCGAGCGTCCAGTAGCTG -3'