|Institutional Source||Beutler Lab|
|Synonyms||stomatin, Epb7.2, protein 7.2b|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4592 (G1)|
|Chromosomal Location||35313986-35336976 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 35323746 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 80 (G80D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028241 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028241]|
|Predicted Effect||probably damaging
AA Change: G80D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: G80D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9752|
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a targeted null mutation lack the protein but appear phenotypically normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stom||
(F):5'- GTCTCTAACAACTGTGACAAGC -3'
(R):5'- ACTGCAAGGGCTTGAGGTTC -3'
(F):5'- ACCTGCGATTCACAGTTGAG -3'
(R):5'- CAAGGGCTTGAGGTTCAGGAC -3'