|Institutional Source||Beutler Lab|
|Gene Name||one cut domain, family member 1|
|Synonyms||HNF6, Oc1, OC-1, D9Ertd423e, Hfh12, Hnf6|
|Is this an essential gene?||Probably essential (E-score: 0.848)|
|Stock #||R7506 (G1)|
|Chromosomal Location||74861921-74891781 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 74863240 bp|
|Amino Acid Change||Phenylalanine to Tyrosine at position 315 (F315Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058020 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056006]|
|Predicted Effect||possibly damaging
AA Change: F315Y
PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: F315Y
|Meta Mutation Damage Score||0.5004|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene results in partial postnatal lethality, billiary tract, pancreas, and islet of Langerhans abnormalities, growth retardation, and glucose and insulin metabolism defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Onecut1||
(F):5'- TCCTCATGCCCACCTGAATG -3'
(R):5'- GACACCTCTCTTGAAGAAAGGGG -3'
(F):5'- TGCCCACCTGAATGCCCAG -3'
(R):5'- CTCTCTTGAAGAAAGGGGAGGCG -3'