|Institutional Source||Beutler Lab|
|Gene Name||metaxin 2|
|Is this an essential gene?||Probably essential (E-score: 0.897)|
|Stock #||R3733 (G1)|
|Chromosomal Location||74825803-74878431 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 74847262 bp|
|Amino Acid Change||Alanine to Glutamic Acid at position 22 (A22E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028511 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028511]|
|Predicted Effect||probably damaging
AA Change: A22E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: A22E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0252|
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtx2||
(F):5'- TGCATCCAGTCTAAGATAGTGTGATTC -3'
(R):5'- TGGCAGGTACAAGTTTAGGC -3'
(F):5'- CAGTGCTGTCGTGTCACCTTAAAG -3'
(R):5'- TGGCAGGTACAAGTTTAGGCAAAAC -3'