Incidental Mutation 'IGL02817:Dmc1'
ID 360854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmc1
Ensembl Gene ENSMUSG00000022429
Gene Name DNA meiotic recombinase 1
Synonyms Mei11, sgdp, Dmc1h, Dmc1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.687) question?
Stock # IGL02817
Quality Score
Status
Chromosome 15
Chromosomal Location 79445698-79489310 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79472964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 161 (T161I)
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: T161I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023065
Gene: ENSMUSG00000022429
AA Change: T161I

DomainStartEndE-ValueType
HhH1 57 76 8.07e0 SMART
AAA 118 307 2.79e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229472
Predicted Effect probably benign
Transcript: ENSMUST00000230011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230121
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ash1l C A 3: 88,892,108 (GRCm39) P1329H probably damaging Het
Bpifb3 T C 2: 153,761,566 (GRCm39) V5A unknown Het
Cep350 A G 1: 155,804,588 (GRCm39) S832P probably damaging Het
Chd1 A T 17: 15,969,762 (GRCm39) H947L possibly damaging Het
Clec4b1 A T 6: 123,045,444 (GRCm39) H88L possibly damaging Het
Col4a1 A G 8: 11,270,259 (GRCm39) L859P probably damaging Het
Cyp2f2 T A 7: 26,828,740 (GRCm39) N203K probably damaging Het
Dgka G A 10: 128,566,097 (GRCm39) T351I probably benign Het
Dnah8 A G 17: 30,887,269 (GRCm39) N688D probably benign Het
Dpy19l3 A G 7: 35,392,233 (GRCm39) L653P probably damaging Het
Drc3 A G 11: 60,275,062 (GRCm39) E341G probably benign Het
Fcrl5 T G 3: 87,343,220 (GRCm39) V10G probably benign Het
Fgfr4 T C 13: 55,304,481 (GRCm39) probably null Het
Gli2 T C 1: 118,764,101 (GRCm39) H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 (GRCm38) S30P probably benign Het
Grik4 T C 9: 42,534,235 (GRCm39) N349S probably benign Het
Ifnar2 G T 16: 91,184,880 (GRCm39) K90N probably benign Het
Kcp A T 6: 29,496,968 (GRCm39) I547N probably damaging Het
L3mbtl4 A T 17: 68,937,249 (GRCm39) E423D probably benign Het
Mapkap1 T C 2: 34,453,130 (GRCm39) L341P probably damaging Het
Mdm1 A G 10: 118,000,251 (GRCm39) Q618R possibly damaging Het
Medag A T 5: 149,350,503 (GRCm39) R51* probably null Het
Myo1f G A 17: 33,823,532 (GRCm39) R1020K probably benign Het
Myrf T C 19: 10,202,816 (GRCm39) N153D probably benign Het
Naf1 T C 8: 67,336,177 (GRCm39) I368T probably damaging Het
Nalf1 A T 8: 9,257,994 (GRCm39) C385S probably damaging Het
Ncapd2 A G 6: 125,147,877 (GRCm39) probably null Het
Nsfl1c T A 2: 151,342,651 (GRCm39) S74T probably damaging Het
Or2a51 A T 6: 43,178,993 (GRCm39) R138S probably benign Het
Or6c68 A G 10: 129,157,764 (GRCm39) T91A probably benign Het
Or8h7 T C 2: 86,720,937 (GRCm39) N194S probably benign Het
Ptgfrn T A 3: 100,968,068 (GRCm39) E508D probably benign Het
Ryr3 C A 2: 112,674,968 (GRCm39) probably null Het
Snx27 A G 3: 94,410,770 (GRCm39) L460P probably damaging Het
Sp4 G T 12: 118,263,287 (GRCm39) T253K probably damaging Het
Trio T C 15: 27,902,967 (GRCm39) I165V probably benign Het
Txnl4b A G 8: 110,299,478 (GRCm39) Y146C probably damaging Het
Vmn1r42 A G 6: 89,822,518 (GRCm39) M17T probably damaging Het
Zer1 T C 2: 29,993,406 (GRCm39) I567V probably damaging Het
Other mutations in Dmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Dmc1 APN 15 79,480,481 (GRCm39) missense probably benign 0.11
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
R9783:Dmc1 UTSW 15 79,484,296 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18