|Institutional Source||Beutler Lab|
|Gene Name||EH-domain containing 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2217 (G1)|
|Chromosomal Location||6276725-6300096 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 6298472 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 493 (D493E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025684 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025684]|
AA Change: D493E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D493E
|Coding Region Coverage||
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'- GCTTTTGATGGCACCATGAATG -3'
(R):5'- TGAGGAAACACCGCTCAGTC -3'
(F):5'- CCATGAATGGGCCCTTTGG -3'
(R):5'- GGAAACACCGCTCAGTCTTTATGG -3'