|Institutional Source||Beutler Lab|
|Gene Name||von Hippel-Lindau tumor suppressor|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R4979 (G1)|
|Chromosomal Location||113623959-113631633 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 113624198 bp (GRCm38)|
|Amino Acid Change||Methionine to Leucine at position 20 (M20L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039418 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035673]|
|PDB Structure||SOLUTION STRUCTURE OF YEAST ELONGIN C IN COMPLEX WITH A VON HIPPEL-LINDAU PEPTIDE [SOLUTION NMR]|
AA Change: M20L
AA Change: M20L
|Meta Mutation Damage Score||0.0603|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus leads to defects similar to those seen in patients with von Hippel-Lindau disease. Abnormalities observed include hepatic and vasculature defects. Homozygozity for null mutations results in embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vhl||
(F):5'- GAGGTGGAATTTATAACCCGGG -3'
(R):5'- TACCTCGGTAGCTGTGGATG -3'
(F):5'- TGGAATTTATAACCCGGGGCTCC -3'
(R):5'- TAGCTGTGGATGCGGCG -3'