|Institutional Source||Beutler Lab|
|Gene Name||epidermal growth factor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7463 (G1)|
|Chromosomal Location||129677565-129755316 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 129740015 bp|
|Amino Acid Change||Glutamine to Lysine at position 59 (Q59K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029653 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029653]|
|Predicted Effect||probably benign
AA Change: Q59K
PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: Q59K
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: This gene encodes epidermal growth factor (EGF), the founding member of the EGF family of growth factors that are implicated in cell proliferation and differentiation. The encoded protein can localize to the membrane and function in juxtacrine signaling or undergo proteolytic processing to generate a soluble form of the hormone. Mice lacking the encoded protein do not exhibit an abnormal phenotype but transgenic mice overexpressing the encoded protein exhibit hypospermatogenesis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Null mutants have normal phenotype. Females triply null, for this locus and the amphiregulin and transforming growth factor alpha genes, are unable to nurse due to impaired mammary gland development and show mild integument and digestive system anomalies. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Egf||
(F):5'- AGTACGCCACATTTGTCAGAATTTG -3'
(R):5'- GGCAGGAGTCCCTTATTCTG -3'
(F):5'- ATTCTTCACATACCATGGGGG -3'
(R):5'- GCAGGAGTCCCTTATTCTGTACAG -3'