|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol glycan anchor biosynthesis, class M|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1371 (G1)|
|Chromosomal Location||172376546-172384099 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 172376814 bp|
|Amino Acid Change||Glutamine to Leucine at position 39 (Q39L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052838 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052455] [ENSMUST00000056136]|
|Predicted Effect||probably damaging
AA Change: Q39L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Q39L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6533|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pigm||
(F):5'- AATCCCGAGGAAGGCAATCGTTC -3'
(R):5'- GAAGAGTTCGCTGAGGTAGACGTTG -3'
(F):5'- TAGCAGAGGAGATGCTCCC -3'
(R):5'- AGGTAGACGTTGGGGGTGAG -3'