|Institutional Source||Beutler Lab|
|Gene Name||forkhead box C2|
|Synonyms||Mfh1, Fkh14, MFH-1, Hfhbf3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2104 (G1)|
|Chromosomal Location||121116171-121118895 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 121118080 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 489 (Y489C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055290 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054691] [ENSMUST00000127664]|
|Predicted Effect||probably damaging
AA Change: Y489C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y489C
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3504|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
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||
|Other mutations in Foxc2||
(F):5'- CCTCCTGGTATCTGAACCAC -3'
(R):5'- CAAACTGAGCTGCGGATAAGTTAC -3'
(F):5'- TGGTATCTGAACCACGGCGG -3'
(R):5'- CTGCGGATAAGTTACCTGCGAG -3'