|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 #||R1505 (G1)|
|Chromosomal Location||75375297-75432320 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 75375542 bp|
|Amino Acid Change||Valine to Isoleucine at position 35 (V35I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084361 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087122]|
|Predicted Effect||probably benign
AA Change: V35I
PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: V35I
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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'- AGGAGCCACATGGAGTCCAAATCC -3'
(R):5'- TTACCTCTGACCTCCAGCACTGTGAG -3'
(F):5'- ATAGTCCCTGAGGCGCAATC -3'
(R):5'- TCCAGCACTGTGAGCACTG -3'