|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin and metallopeptidase domain 24 (testase 1)|
|Is this an essential gene?||Probably non essential (E-score: 0.084)|
|Stock #||R6633 (G1)|
|Chromosomal Location||40675077-40682199 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 40680487 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 331 (D331E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050727 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051614]|
|Predicted Effect||probably benign
AA Change: D331E
PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: D331E
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Male mice lacking the encoded protein exhibit reduced fertility due to the higher incidence of polyspermic embryos. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile and produce an increased number of polyspermic embryos at the pronuclear stage. Female homozygotes show normal fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adam24||
(F):5'- TTGCCAGCATTTTGTACGTG -3'
(R):5'- TCCCACAGACCTTCAATTGG -3'
(F):5'- CCAGCATTTTGTACGTGGAAGG -3'
(R):5'- AATATCAGAAGGTCTGGGCTCTC -3'