|Institutional Source||Beutler Lab|
|Gene Name||forkhead box F1|
|Synonyms||FREAC1, Hfh8, Freac-1, Foxf1a, Foxf1, HFH-8|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R9232 (G1)|
|Chromosomal Location||121084386-121088144 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 121084976 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 193 (M193K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000137662 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000181504]|
AA Change: M193K
PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: M193K
|Meta Mutation Damage Score||0.0983|
|Coding Region Coverage||
|Validation Efficiency||98% (53/54)|
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 forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in mid-gestation lethality, defects in extraembryonic and lateral plate mesoderm differentiation, failure of embryo turning, absence of yolk sac and allantois vasculogenesis, retarded somite and posterior embryo development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Foxf1||
(F):5'- CCGGCTAGCGAGTTTATGTTC -3'
(R):5'- CTGCAGAGCTGGAGTAAACG -3'
(F):5'- TTCGAGGAGGGCTCGTTCC -3'
(R):5'- CTGGAGTAAACGGCGTGC -3'