|Institutional Source||Beutler Lab|
|Gene Name||DNA meiotic recombinase 1|
|Synonyms||Dmc1h, sgdp, Dmc1, Mei11|
|Is this an essential gene?||Possibly essential (E-score: 0.693)|
|Stock #||R8270 (G1)|
|Chromosomal Location||79561497-79605109 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 79601545 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 23 (D23G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023065 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023065]|
|Predicted Effect||probably damaging
AA Change: D23G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D23G
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. In mouse, deficiency of this gene causes infertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for targeted mutations are sterile with failure of homologous pairing in meiotic prophase in males and disrupted oogenesis in embryonic females with absence of germ cells in the adult ovary. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dmc1||
(F):5'- CCATGGGGTTGGTTCTCATATAC -3'
(R):5'- CCCTAGGACATTCATTGTTGGTG -3'
(F):5'- CACCAGGCACATTGCTAA -3'
(R):5'- ACATTCATTGTTGGTGCATGTTC -3'