|Institutional Source||Beutler Lab|
|Gene Name||microrchidia 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.277)|
|Stock #||R8417 (G1)|
|Chromosomal Location||48431237-48630900 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 48460740 bp|
|Amino Acid Change||Valine to Alanine at position 214 (V214A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023330 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023330]|
|Predicted Effect||probably damaging
AA Change: V214A
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: V214A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]
PHENOTYPE: Inactivation of this locus results in small testes and male sterility, the latter owing to meiotic arrest. Mutant females exhibited histologically normal ovaries and were fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Morc1||
(F):5'- ATTTCCCAGAAAGCATGGCT -3'
(R):5'- CGTGTCGAGGACTTTTGGGA -3'
(F):5'- TCTGCATTGAAGGGTCACAGC -3'
(R):5'- ACTTTTGGGATAGCATTGGAAATG -3'