|Institutional Source||Beutler Lab|
|Gene Name||spectrin alpha, erythrocytic 1|
|Synonyms||erythroid, Spna-1, ihj, Spna1|
|Is this an essential gene?||Possibly essential (E-score: 0.649)|
|Stock #||R1184 (G1)|
|Chromosomal Location||174172776-174248450 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 174184690 bp|
|Amino Acid Change||Arginine to Histidine at position 354 (R354H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027817 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027817]|
|Predicted Effect||probably damaging
AA Change: R354H
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: R354H
|Meta Mutation Damage Score||0.244|
|Coding Region Coverage||
|Validation Efficiency||100% (83/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spta1||
(F):5'- CTCTGGCATGAAGCTCTAAAGGAGTC -3'
(R):5'- CCAGTGTGCAAAAGAACTTCATTTGGC -3'
(F):5'- GACAGGAATAAGAGCCATTTCTTC -3'
(R):5'- TGCGTTGAGGACCCTTGAAA -3'