|Institutional Source||Beutler Lab|
|Gene Name||forkhead box A3|
|Synonyms||Hnf-3g, Hnf3g, Tcf-3g, Tcf3g|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1833 (G1)|
|Chromosomal Location||19013284-19023538 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 19014574 bp|
|Amino Acid Change||Leucine to Proline at position 209 (L209P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043173 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036018]|
|Predicted Effect||probably damaging
AA Change: L209P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L209P
|Meta Mutation Damage Score||0.9302|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced expression of several liver-specific and liver-enriched genes, but appear to be phenotypically normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Foxa3||
(F):5'- TCCAGGCCGCTGAAATAAG -3'
(R):5'- GATCATGGACCTCTTCCCGTAC -3'
(F):5'- CCGCTGAAATAAGGTGTGGAC -3'
(R):5'- GTACTACCGGGAGAACCAGC -3'