|Institutional Source||Beutler Lab|
|Gene Name||engrailed 1|
|Synonyms||Mo-en.1, En-1, engrailed-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5400 (G1)|
|Chromosomal Location||120602418-120607992 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 120603595 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 188 (D188G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078659 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079721]|
|Predicted Effect||probably damaging
AA Change: D188G
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: D188G
|Meta Mutation Damage Score||0.0597|
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant homozygotes usually die within 24 hours of birth. Mutants exhibit nervous system defects, including a lack of most of the colliculi, cerebellum, and the third and fourth cranial nerves in some lines. Skeletal anomalies have also been described. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in En1||
(F):5'- ACATCCTAAGGCCCGATTTCG -3'
(R):5'- CATGAGTAGGATCGCAGGGTTG -3'
(F):5'- CGATTTCGGTTGCAAAAAGGAAC -3'
(R):5'- GTTCCGGGAACTTGGCG -3'