|Institutional Source||Beutler Lab|
|Gene Name||myelin and lymphocyte protein, T cell differentiation protein|
|Is this an essential gene?||Probably non essential (E-score: 0.105)|
|Stock #||R0352 (G1)|
|Chromosomal Location||127633226-127656695 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 127640366 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 39 (I39N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028854 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028853] [ENSMUST00000028854]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: I39N
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: I39N
|Meta Mutation Damage Score||0.308|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: This gene encodes a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The encoded protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous null mice display abnormal myelination and optic nerve morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mal||
(F):5'- TCACCAGTGTGATCCAGGAAGTCTC -3'
(R):5'- ACAAACGTGTCCATTCCTCGCC -3'
(F):5'- GATCCAGGAAGTCTCACCGC -3'
(R):5'- ATAACACTGTTGCCGGAGC -3'