|Institutional Source||Beutler Lab|
|Gene Name||spectrin beta, erythrocytic|
|Synonyms||LOC383567, spectrin R, D330027P03Rik, brain erythroid spectrin (235E), Spnb-1, Spnb1|
|Is this an essential gene?||Probably essential (E-score: 0.859)|
|Stock #||R4625 (G1)|
|Chromosomal Location||76580488-76710547 bp(-) (GRCm38)|
|Type of Mutation||splice site (5 bp from exon)|
|DNA Base Change (assembly)||C to A at 76587326 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000021458 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021458]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||97% (75/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sptb||
(F):5'- TCAGACCCCAGATCAAGATAGG -3'
(R):5'- AGAAAGAGGACCATGGCCTC -3'
(F):5'- AGGCTTCTCCTATCATGCCAAG -3'
(R):5'- ATGGCCTCAGGACCTGCAAC -3'