|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.091)|
|Stock #||PIT4354001 (G1)|
|Chromosomal Location||129287617-129308559 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 129306654 bp|
|Amino Acid Change||Glutamine to Leucine at position 451 (Q451L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099659 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102598] [ENSMUST00000102599]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: Q451L
PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: Q451L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygotes for one knock-out allele show reduced generation of isometric stress in skeletal muscle but a normal response to eccentric contraction-induced injury. Homozygotes for another knock-out allele show impaired contractility and increased skeletalmuscle damage under a forced exercise regime. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sync||
(F):5'- AGTGTTCTCTGCTTCCCAAG -3'
(R):5'- ACCAGCCAGTAGATGATGTAGC -3'
(F):5'- GTCTCTCAAATCTAAAACTCAGAGG -3'
(R):5'- CTAAAAGTTCTTAGCTGGGCAG -3'