Incidental Mutation 'R9783:Dmc1'
ID 734179
Institutional Source Beutler Lab
Gene Symbol Dmc1
Ensembl Gene ENSMUSG00000022429
Gene Name DNA meiotic recombinase 1
Synonyms Mei11, sgdp, Dmc1h, Dmc1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.765) question?
Stock # R9783 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 79445698-79489310 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79484296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 65 (L65P)
Ref Sequence ENSEMBL: ENSMUSP00000023065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023065] [ENSMUST00000229408] [ENSMUST00000230011]
AlphaFold Q61880
Predicted Effect probably damaging
Transcript: ENSMUST00000023065
AA Change: L65P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023065
Gene: ENSMUSG00000022429
AA Change: L65P

DomainStartEndE-ValueType
HhH1 57 76 8.07e0 SMART
AAA 118 307 2.79e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229408
AA Change: L65P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000230011
AA Change: L65P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdkn2aip A G 8: 48,164,090 (GRCm39) V541A possibly damaging Het
Cep170b C A 12: 112,711,118 (GRCm39) D1499E probably damaging Het
Cers2 T C 3: 95,229,438 (GRCm39) S248P probably benign Het
Chd5 T A 4: 152,458,865 (GRCm39) I1076N probably damaging Het
Col6a2 T C 10: 76,440,720 (GRCm39) probably null Het
D6Ertd527e G A 6: 87,088,602 (GRCm39) G255D unknown Het
Dennd5b T C 6: 148,911,342 (GRCm39) T954A probably damaging Het
Dock2 A G 11: 34,208,128 (GRCm39) Y1307H possibly damaging Het
Gckr G A 5: 31,466,399 (GRCm39) S458N probably benign Het
Gpx4 T C 10: 79,890,851 (GRCm39) V181A possibly damaging Het
Hmcn1 C T 1: 150,598,380 (GRCm39) E1641K probably benign Het
Htr7 A G 19: 35,946,787 (GRCm39) I409T probably damaging Het
Ighv8-9 C T 12: 115,431,994 (GRCm39) V106M probably benign Het
Kri1 T C 9: 21,190,709 (GRCm39) E384G Het
Lyz3 T C 10: 117,073,653 (GRCm39) N60S possibly damaging Het
Mfhas1 T C 8: 36,057,934 (GRCm39) L803P probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Noxa1 C A 2: 24,985,053 (GRCm39) probably benign Het
Or1j16 A G 2: 36,530,161 (GRCm39) T37A probably benign Het
Or5d38 A T 2: 87,954,610 (GRCm39) F240I probably benign Het
Otof T C 5: 30,536,576 (GRCm39) K1302E probably benign Het
Pdcl A G 2: 37,242,174 (GRCm39) V192A probably benign Het
Plxdc2 C T 2: 16,674,349 (GRCm39) Q310* probably null Het
Pola2 C T 19: 5,990,904 (GRCm39) V597M probably damaging Het
Prkcd T A 14: 30,321,444 (GRCm39) Y549F probably damaging Het
Rho T C 6: 115,910,920 (GRCm39) M155T probably benign Het
Scap C T 9: 110,202,132 (GRCm39) H167Y probably benign Het
Sfn T C 4: 133,329,128 (GRCm39) probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc13a2 T A 11: 78,294,177 (GRCm39) T235S probably damaging Het
Slc40a1 A G 1: 45,951,513 (GRCm39) S215P probably damaging Het
Spam1 G A 6: 24,796,226 (GRCm39) R59H probably benign Het
Tmeff1 T C 4: 48,662,005 (GRCm39) C347R probably damaging Het
Tmprss15 T C 16: 78,887,890 (GRCm39) probably benign Het
Ugt2b37 G T 5: 87,388,840 (GRCm39) L458M probably damaging Het
Unc13c T A 9: 73,392,227 (GRCm39) I2042F probably benign Het
Zfp12 C A 5: 143,230,513 (GRCm39) T312K probably damaging Het
Other mutations in Dmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Dmc1 APN 15 79,480,481 (GRCm39) missense probably benign 0.11
IGL02817:Dmc1 APN 15 79,472,964 (GRCm39) missense probably damaging 1.00
IGL03131:Dmc1 APN 15 79,452,892 (GRCm39) missense probably benign 0.02
IGL03341:Dmc1 APN 15 79,446,746 (GRCm39) missense probably benign 0.01
R0129:Dmc1 UTSW 15 79,480,441 (GRCm39) splice site probably benign
R0395:Dmc1 UTSW 15 79,472,973 (GRCm39) missense probably damaging 1.00
R0908:Dmc1 UTSW 15 79,469,890 (GRCm39) missense probably damaging 1.00
R2219:Dmc1 UTSW 15 79,469,327 (GRCm39) missense possibly damaging 0.77
R3706:Dmc1 UTSW 15 79,446,782 (GRCm39) missense probably damaging 1.00
R6362:Dmc1 UTSW 15 79,473,024 (GRCm39) missense probably benign 0.42
R7499:Dmc1 UTSW 15 79,486,621 (GRCm39) nonsense probably null
R7619:Dmc1 UTSW 15 79,480,443 (GRCm39) critical splice donor site probably null
R8270:Dmc1 UTSW 15 79,485,746 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACCCAGCTTTCCAGAGAC -3'
(R):5'- ACACGAAGCTCATGACATAGTAG -3'

Sequencing Primer
(F):5'- ACTCTGAAGTAATGTGGCTCTGAAG -3'
(R):5'- ATAGTAGAGAAGACTTTTAGGTTGGC -3'
Posted On 2022-11-14