|Institutional Source||Beutler Lab|
|Gene Name||forkhead box A1|
|Synonyms||Hnf3a, Hnf-3a, Tcf3a, Tcf-3a|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5554 (G1)|
|Chromosomal Location||57540628-57546916 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 57542291 bp|
|Amino Acid Change||Glutamine to Leucine at position 381 (Q381L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041118 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044380]|
|Predicted Effect||probably benign
AA Change: Q381L
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: Q381L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0756|
|Coding Region Coverage||
|Validation Efficiency||97% (73/75)|
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal feeding, hypoglycemia, impaired glucagon secretion, hypotryglyceridemia, wasting, and lethality between postnatal days 2 and 14. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Foxa1||
(F):5'- ACACCTTGGTAGTAGGCTGG -3'
(R):5'- TTCAAGTGTGAGAAGCAGCC -3'
(F):5'- TAGTAGGCTGGCTCCAGG -3'
(R):5'- TGCACGGAAAGGCTAGCC -3'