|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.223)|
|Stock #||R5083 (G1)|
|Chromosomal Location||63115795-63203952 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 63118528 bp|
|Amino Acid Change||Valine to Aspartic acid at position 1224 (V1224D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093240 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095580] [ENSMUST00000218978]|
|Predicted Effect||probably damaging
AA Change: V1224D
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V1224D
|Predicted Effect||possibly damaging
AA Change: V109D
PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mypn||
(F):5'- TCCGTCTTCCAAGCAGCAAG -3'
(R):5'- GAGAACAAGATGGAGGCTTTTC -3'
(F):5'- CGTCTTCCAAGCAGCAAGTGTAATG -3'
(R):5'- TCTAGGCTGTGATTGAAAAGCG -3'