|Institutional Source||Beutler Lab|
|Gene Name||epididymal protein 3B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5269 (G1)|
|Chromosomal Location||51114426-51117807 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 51116721 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 55 (D55E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000098210 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000100645]|
|Predicted Effect||probably damaging
AA Change: D55E
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D55E
|Meta Mutation Damage Score||0.034|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eddm3b||
(F):5'- TAGATGTCCTTGGTGCCTGC -3'
(R):5'- ATCAGCATTGCAATGGAACTGAAC -3'
(F):5'- GCTCTGATGTCCTCTCTAAAAGC -3'
(R):5'- TGGAACTGAACGTAGCTGTAACTCC -3'