|Institutional Source||Beutler Lab|
|Gene Name||forkhead box L1|
|Synonyms||Fkh6, fkh6, fkh-6, FREAC7|
|Essential gene?||Probably non essential (E-score: 0.105)|
|Stock #||R5990 (G1)|
|Chromosomal Location||121127940-121130644 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 121128421 bp (GRCm38)|
|Amino Acid Change||Alanine to Serine at position 154 (A154S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000137732 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000181609]|
AA Change: A154S
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: A154S
|Meta Mutation Damage Score||0.0618|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit impaired stomach and intestine development, including impaired parietal cell differentiation, abnormal intestinal epithelium and crypt structure, gastric mucosal hyperplasia, growth retardation, and sometimes postnatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Foxl1||
(F):5'- GTTCATCATGGATCGCTTCCCG -3'
(R):5'- TTGGAACCTTTTGGGGAGCC -3'
(F):5'- TGGCAGAACAGCATCCG -3'
(R):5'- ACTGTGAGGTCCGCGTC -3'