|Institutional Source||Beutler Lab|
|Gene Name||EH-domain containing 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2067 (G1)|
|Chromosomal Location||6276725-6300096 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 6298078 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 362 (L362P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025684 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025684]|
AA Change: L362P
PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: L362P
|Meta Mutation Damage Score||0.1255|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ehd1||
(F):5'- AGGGATAGTGCAGTTGTGACC -3'
(R):5'- ATCATCAATGCCCTCGCCAG -3'
(F):5'- TAGCCTGAACTGGTAGGT -3'
(R):5'- CAAAGGGCCCATTCATGGTG -3'