|Institutional Source||Beutler Lab|
|Gene Name||mediator of DNA damage checkpoint 1|
|Is this an essential gene?||Probably essential (E-score: 0.950)|
|Stock #||R2964 (G1)|
|Chromosomal Location||35841515-35859670 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 35853637 bp|
|Amino Acid Change||Glutamine to Leucine at position 1359 (Q1359L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080949 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082337]|
|Predicted Effect||possibly damaging
AA Change: Q1359L
PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: Q1359L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1142|
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 7 divergent copies of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. Mice with mutations in this gene exhibit growth retardation, male infertility, immune defects, chromosome instability, DNA repair defects, and radiation sensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are smaller and display increased susceptibility to ionizing radiation, male infertility, T and B cell abnormalities, and increased genomic instability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mdc1||
(F):5'- TGTCAAGACTCCTGAAGCGAG -3'
(R):5'- GGCAGAGTAAGACTTATGACCCAG -3'
(F):5'- AAGACTCCTGAAGCGAGTGTCC -3'
(R):5'- GAGGGACTGTGCGGGAACC -3'