|Institutional Source||Beutler Lab|
|Gene Name||myosin IE|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2029 (G1)|
|Chromosomal Location||70207350-70399766 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 70368687 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 728 (N728I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034745 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034745] [ENSMUST00000214042]|
|Predicted Effect||possibly damaging
AA Change: N728I
PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: N728I
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.45|
|Coding Region Coverage||
|Validation Efficiency||98% (97/99)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myo1e||
(F):5'- GAATCAATGTGAGACTCAATGTGA -3'
(R):5'- TGACTCTTAACAGATTGCATACCT -3'
(F):5'- GCCTTACAGCTGAATCTCATAGAGG -3'
(R):5'- AGATTGCATACCTTGAACCTCCTG -3'