|Institutional Source||Beutler Lab|
|Gene Name||melanoma inhibitory activity 2|
|Is this an essential gene?||Probably essential (E-score: 0.961)|
|Stock #||R8110 (G1)|
|Chromosomal Location||59095799-59191583 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 59109087 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000021384 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021384] [ENSMUST00000219140]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||57% (42/74)|
FUNCTION: This gene encodes a protein that is involved in endoplasmic reticulum-to-Golgi trafficking and regulation of cholesterol metabolism. Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species. Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding diverse isoforms. A mutation in this gene (couch-potato or cpto) may result in low levels of plasma cholesterol and triglycerides. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit decreased serum levels of cholesterol, HDL cholesterol, triglyceride, and VLDL triglyceride. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mia2||
(F):5'- AGAGGACACAGAATTACCATTTTCC -3'
(R):5'- GTTGGCTAAGACATGGGCTC -3'
(F):5'- CCATTTTCCAAAAAGATGCTGGATC -3'
(R):5'- AACTTGGAGTTGCACAGTTCCAG -3'