|Institutional Source||Beutler Lab|
|Gene Name||ladybird homeobox 1|
|Is this an essential gene?||Probably essential (E-score: 0.838)|
|Stock #||R4276 (G1)|
|Chromosomal Location||45232684-45235812 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 45235089 bp|
|Amino Acid Change||Valine to Leucine at position 47 (V47L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096997 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099401]|
|Predicted Effect||probably benign
AA Change: V47L
PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: V47L
|Meta Mutation Damage Score||0.0729|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired limb muscle development resulting from progenitor cell migration defects. Defects in heart development and nervous system morphology are also reported. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lbx1||
(F):5'- CTAGACTTGTGCCTACCTTCGG -3'
(R):5'- TTTAAATAGCACCGGGGCTG -3'
(F):5'- TACCTTCGGCTGCCTGCAG -3'
(R):5'- GCTGGCGAAACTGGAGC -3'