Incidental Mutation 'R7619:Dmc1'
ID 589070
Institutional Source Beutler Lab
Gene Symbol Dmc1
Ensembl Gene ENSMUSG00000022429
Gene Name DNA meiotic recombinase 1
Synonyms Mei11, sgdp, Dmc1h, Dmc1
MMRRC Submission 045686-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.765) question?
Stock # R7619 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79445698-79489310 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 79480443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023065] [ENSMUST00000229408] [ENSMUST00000230011]
AlphaFold Q61880
Predicted Effect probably null
Transcript: ENSMUST00000023065
SMART Domains Protein: ENSMUSP00000023065
Gene: ENSMUSG00000022429

DomainStartEndE-ValueType
HhH1 57 76 8.07e0 SMART
AAA 118 307 2.79e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000229408
Predicted Effect probably benign
Transcript: ENSMUST00000230011
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (50/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C G 16: 14,263,283 (GRCm39) P748A probably damaging Het
Abcc12 A G 8: 87,293,182 (GRCm39) V2A probably damaging Het
Anxa3 T C 5: 96,978,263 (GRCm39) Y216H probably damaging Het
Arpc1a C A 5: 145,041,668 (GRCm39) T317K probably benign Het
C330018D20Rik A G 18: 57,095,483 (GRCm39) L34S probably damaging Het
C5ar1 A G 7: 15,982,504 (GRCm39) F172S probably damaging Het
Ccl27a G A 4: 41,774,166 (GRCm39) probably benign Het
Clip1 T C 5: 123,752,342 (GRCm39) N480D Het
Cttnbp2nl A G 3: 104,912,076 (GRCm39) S603P possibly damaging Het
Dnhd1 A G 7: 105,323,475 (GRCm39) I626V probably benign Het
Dnm2 A G 9: 21,416,930 (GRCm39) N821S probably benign Het
Dst T C 1: 34,238,509 (GRCm39) L1723S probably benign Het
Ep300 T A 15: 81,492,399 (GRCm39) M245K unknown Het
Fam227a T C 15: 79,501,967 (GRCm39) T536A probably benign Het
Fbn2 G T 18: 58,213,299 (GRCm39) R963S possibly damaging Het
Fbxo42 T G 4: 140,927,673 (GRCm39) I651S possibly damaging Het
Ggnbp1 T A 17: 27,237,105 (GRCm39) M1K probably null Het
Gm10800 AAAGAAAACTGAA ACAAGAAAACTGAA 2: 98,497,378 (GRCm39) probably null Het
Grid2 T C 6: 63,908,085 (GRCm39) F242L possibly damaging Het
Igf2r A G 17: 12,917,160 (GRCm39) V1580A possibly damaging Het
Marchf4 A G 1: 72,574,148 (GRCm39) V50A possibly damaging Het
Mettl15 T A 2: 108,923,220 (GRCm39) R401* probably null Het
Mki67 A T 7: 135,301,106 (GRCm39) H1309Q probably benign Het
Mtor T C 4: 148,547,252 (GRCm39) Y412H probably damaging Het
Myef2 C T 2: 124,965,396 (GRCm39) G15S probably benign Het
Napepld A T 5: 21,880,846 (GRCm39) I183N probably damaging Het
Nbeal2 T C 9: 110,454,886 (GRCm39) E2644G probably benign Het
Neb C T 2: 52,186,438 (GRCm39) R878Q possibly damaging Het
Or52l1 A G 7: 104,829,956 (GRCm39) V203A probably damaging Het
Otol1 A T 3: 69,935,202 (GRCm39) H398L probably damaging Het
Pcdhga9 A G 18: 37,871,805 (GRCm39) S545G probably damaging Het
Pramel19 T G 4: 101,798,497 (GRCm39) F156C probably benign Het
Rhbdl1 T C 17: 26,055,991 (GRCm39) S4G possibly damaging Het
Ric1 A G 19: 29,557,175 (GRCm39) E420G probably benign Het
Sap30l G A 11: 57,698,887 (GRCm39) R120H probably damaging Het
Scn2a T C 2: 65,546,247 (GRCm39) F937L probably damaging Het
Sdf2 G A 11: 78,141,989 (GRCm39) G108D probably damaging Het
Skint5 T C 4: 113,381,305 (GRCm39) S1263G unknown Het
Stab1 A G 14: 30,867,194 (GRCm39) I1722T probably benign Het
Syn3 A G 10: 85,893,428 (GRCm39) S472P unknown Het
Tcp11l2 T C 10: 84,430,622 (GRCm39) F249S probably damaging Het
Thoc7 T A 14: 13,961,819 (GRCm38) probably null Het
Tvp23a C A 16: 10,246,602 (GRCm39) C61F probably damaging Het
Ubfd1 G A 7: 121,666,606 (GRCm39) G34D probably benign Het
Vmn1r160 A T 7: 22,570,967 (GRCm39) T107S probably damaging Het
Vmn2r108 T A 17: 20,692,457 (GRCm39) K133I probably benign Het
Vmn2r15 A T 5: 109,436,190 (GRCm39) probably null Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Zfp354c C T 11: 50,708,635 (GRCm39) probably null Het
Zfp560 G T 9: 20,260,206 (GRCm39) Q219K probably benign Het
Zfp691 C T 4: 119,028,181 (GRCm39) G17E probably damaging Het
Zfp930 T A 8: 69,661,810 (GRCm39) M1K probably null Het
Zkscan14 A G 5: 145,132,169 (GRCm39) F454S probably benign 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
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'- ATTCAGGAAAAGAAACATGGACTCC -3'
(R):5'- GACCTCGATACATGTATTGCTGG -3'

Sequencing Primer
(F):5'- GACTGCTCTTCCAAAGGTCATGAG -3'
(R):5'- CGATACATGTATTGCTGGGAGGC -3'
Posted On 2019-10-24