Incidental Mutation 'R7499:Dmc1'
ID 581399
Institutional Source Beutler Lab
Gene Symbol Dmc1
Ensembl Gene ENSMUSG00000022429
Gene Name DNA meiotic recombinase 1
Synonyms Mei11, sgdp, Dmc1h, Dmc1
MMRRC Submission 045572-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.765) question?
Stock # R7499 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 79445698-79489310 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 79486621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 11 (S11*)
Ref Sequence ENSEMBL: ENSMUSP00000023065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023065] [ENSMUST00000229408] [ENSMUST00000230011]
AlphaFold Q61880
Predicted Effect probably null
Transcript: ENSMUST00000023065
AA Change: S11*
SMART Domains Protein: ENSMUSP00000023065
Gene: ENSMUSG00000022429
AA Change: S11*

DomainStartEndE-ValueType
HhH1 57 76 8.07e0 SMART
AAA 118 307 2.79e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000229408
AA Change: S11*
Predicted Effect probably null
Transcript: ENSMUST00000230011
AA Change: S11*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,907,186 (GRCm39) D180V possibly damaging Het
Abat T C 16: 8,421,618 (GRCm39) probably null Het
Ankfn1 G A 11: 89,282,576 (GRCm39) T357I probably benign Het
Armc3 C T 2: 19,290,790 (GRCm39) T423I probably benign Het
Asb6 T C 2: 30,714,472 (GRCm39) T213A possibly damaging Het
Atp11a T C 8: 12,882,575 (GRCm39) C488R probably benign Het
Bag6 G A 17: 35,363,368 (GRCm39) R736H probably benign Het
Bche G A 3: 73,609,231 (GRCm39) P65L probably damaging Het
Cela3a T A 4: 137,132,950 (GRCm39) I101F probably damaging Het
Cep170 A T 1: 176,602,028 (GRCm39) D359E probably damaging Het
Chfr T C 5: 110,299,549 (GRCm39) V314A probably benign Het
Clpb T C 7: 101,371,935 (GRCm39) F224L possibly damaging Het
Coro2a T C 4: 46,539,188 (GRCm39) K527R probably benign Het
Cpa5 A G 6: 30,630,856 (GRCm39) T373A possibly damaging Het
Ctsd A T 7: 141,937,149 (GRCm39) probably null Het
Dlx5 G A 6: 6,878,340 (GRCm39) S230F possibly damaging Het
Dlx5 A C 6: 6,878,341 (GRCm39) S230A probably benign Het
Dnah1 G A 14: 31,037,079 (GRCm39) Q256* probably null Het
Dnah3 A G 7: 119,660,135 (GRCm39) F846L probably damaging Het
Dnah5 A T 15: 28,302,596 (GRCm39) I1618F probably damaging Het
Emsy A G 7: 98,279,538 (GRCm39) V267A possibly damaging Het
Fgfr3 GGACCTCTCCGTG GG 5: 33,892,766 (GRCm39) probably null Het
Frem1 T C 4: 82,924,007 (GRCm39) I317M probably damaging Het
G6pc1 C A 11: 101,267,520 (GRCm39) Y323* probably null Het
Gm5114 A G 7: 39,058,489 (GRCm39) C377R possibly damaging Het
Gm7361 C A 5: 26,466,188 (GRCm39) H183Q probably benign Het
Hmbox1 A G 14: 65,134,126 (GRCm39) V158A possibly damaging Het
Hmg20a A G 9: 56,396,227 (GRCm39) R340G unknown Het
Ifi206 T A 1: 173,309,607 (GRCm39) I130F Het
Ifnb1 T C 4: 88,440,911 (GRCm39) N34S probably benign Het
Il16 T C 7: 83,323,702 (GRCm39) K283E probably damaging Het
Maf T C 8: 116,419,920 (GRCm39) D374G probably benign Het
Mettl14 A G 3: 123,168,503 (GRCm39) I179T probably benign Het
Mpped1 G A 15: 83,684,251 (GRCm39) R91H probably damaging Het
Nop2 C A 6: 125,121,171 (GRCm39) P651Q possibly damaging Het
Or5p62 A G 7: 107,771,007 (GRCm39) *315Q probably null Het
Phkg1 G A 5: 129,902,109 (GRCm39) Q89* probably null Het
Phykpl T A 11: 51,482,285 (GRCm39) V133E probably damaging Het
Polr3gl A T 3: 96,487,137 (GRCm39) Y183N probably benign Het
Rab13 A G 3: 90,132,840 (GRCm39) T187A probably benign Het
Ripor2 A G 13: 24,877,755 (GRCm39) M252V probably damaging Het
Sec61a2 T C 2: 5,882,725 (GRCm39) N186S probably benign Het
Serpinb5 T C 1: 106,800,119 (GRCm39) probably null Het
Serpine3 G A 14: 62,902,476 (GRCm39) W29* probably null Het
Sh2b3 T C 5: 121,956,536 (GRCm39) R382G probably damaging Het
Slc66a1 T A 4: 139,033,823 (GRCm39) D32V probably damaging Het
Slc7a5 A G 8: 122,610,461 (GRCm39) L451P probably damaging Het
Slco1a5 T C 6: 142,208,257 (GRCm39) probably null Het
Tep1 G A 14: 51,091,047 (GRCm39) A695V probably damaging Het
Tnik T C 3: 28,684,743 (GRCm39) V857A possibly damaging Het
Trdn A T 10: 33,072,097 (GRCm39) M255L probably benign Het
Tsc22d4 G A 5: 137,745,985 (GRCm39) S203N probably benign Het
Tsfm T C 10: 126,858,417 (GRCm39) E316G possibly damaging Het
Tvp23b T C 11: 62,770,289 (GRCm39) probably benign Het
Vgf C A 5: 137,061,099 (GRCm39) D420E probably damaging Het
Zan G A 5: 137,462,618 (GRCm39) P854S probably benign Het
Zfp831 T C 2: 174,485,816 (GRCm39) S164P possibly 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
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
R9783:Dmc1 UTSW 15 79,484,296 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTTCATGCCAGTTGCTAAGTAG -3'
(R):5'- AGGCAGATCTCTGAGTCTGAGG -3'

Sequencing Primer
(F):5'- TTAGCACCCTTGCCAAAG -3'
(R):5'- TTACAGAGCAAGTTCTAGGATAGCC -3'
Posted On 2019-10-17