|Institutional Source||Beutler Lab|
|Gene Name||SPEG complex locus|
|Synonyms||SPEGbeta, Apeg1, SPEGalpha, D1Bwg1450e, SPEG, BPEG|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6038 (G1)|
|Chromosomal Location||75375297-75432320 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 75418459 bp (GRCm38)|
|Amino Acid Change|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087122]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9490|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants that encode different protein isoforms have been defined. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Speg||
(F):5'- TGCCATGGTCCCTGACTTTG -3'
(R):5'- ATCTTTTAGGATCAGGTCGCTC -3'
(F):5'- ACTTTGGGTTGAGGTCCTACC -3'
(R):5'- TGCCAAGATGGTGCTCAAC -3'