|Institutional Source||Beutler Lab|
|Gene Name||LIM domain only 7|
|Is this an essential gene?||Possibly non essential (E-score: 0.316)|
|Stock #||R0961 (G1)|
|Chromosomal Location||101729957-101934710 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 101794269 bp|
|Amino Acid Change||Threonine to Lysine at position 33 (T33K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097910 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000100337]|
|Predicted Effect||probably benign
AA Change: T33K
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: T33K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009]
PHENOTYPE: Targeted mutations in this gene result in postnatal lethality, growth defects, skeletal muscle abnormalities and retinal defects reflective of retinal degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lmo7||
(F):5'- GCTTTCGGTGCTACGTGCAAATC -3'
(R):5'- TGTACTAAGCAGCCACTGTAGACCC -3'
(F):5'- TGCTACGTGCAAATCGTCAG -3'
(R):5'- GCAATAACAGACTCTTGCttatttac -3'