Incidental Mutation 'IGL03131:Dmc1'
ID 410340
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? Probably essential (E-score: 0.765) question?
Stock # IGL03131
Quality Score
Status
Chromosome 15
Chromosomal Location 79445698-79489310 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79452892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 246 (I246L)
Ref Sequence ENSEMBL: ENSMUSP00000155228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023065] [ENSMUST00000229408] [ENSMUST00000230011]
AlphaFold Q61880
Predicted Effect probably benign
Transcript: ENSMUST00000023065
AA Change: I301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023065
Gene: ENSMUSG00000022429
AA Change: I301L

DomainStartEndE-ValueType
HhH1 57 76 8.07e0 SMART
AAA 118 307 2.79e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229408
AA Change: I246L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,251 (GRCm39) R135S unknown Het
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Abca12 A T 1: 71,385,861 (GRCm39) F252L probably benign Het
Abcd3 A T 3: 121,575,640 (GRCm39) probably benign Het
Acvr2b C A 9: 119,260,350 (GRCm39) F364L possibly damaging Het
Adamts12 T C 15: 11,345,650 (GRCm39) C1564R probably damaging Het
Agap3 A G 5: 24,682,130 (GRCm39) T392A probably benign Het
Ano1 A G 7: 144,157,322 (GRCm39) F767L possibly damaging Het
Atg10 C A 13: 91,085,412 (GRCm39) R179I probably null Het
Bsph1 A T 7: 13,207,012 (GRCm39) K129N probably damaging Het
Calml4 A G 9: 62,782,765 (GRCm39) D77G probably benign Het
Cc2d1a T A 8: 84,870,056 (GRCm39) K153M probably damaging Het
Col4a2 G A 8: 11,475,979 (GRCm39) V672I probably benign Het
Crnkl1 T C 2: 145,774,178 (GRCm39) K95R probably benign Het
Crtap T C 9: 114,209,072 (GRCm39) D324G possibly damaging Het
Csmd1 C T 8: 16,138,231 (GRCm39) G1607E probably damaging Het
Dcbld2 T G 16: 58,272,051 (GRCm39) I369R probably benign Het
Dock1 G T 7: 134,475,912 (GRCm39) V896L possibly damaging Het
Eftud2 G A 11: 102,761,009 (GRCm39) T112M probably damaging Het
F5 A T 1: 163,989,388 (GRCm39) I97F possibly damaging Het
Fasn C T 11: 120,701,550 (GRCm39) V1939M possibly damaging Het
Gpatch2l T C 12: 86,328,285 (GRCm39) V414A probably benign Het
Gpd2 T C 2: 57,228,855 (GRCm39) probably benign Het
Gria4 T G 9: 4,432,876 (GRCm39) N769T probably damaging Het
Gtf3c2 A T 5: 31,314,964 (GRCm39) F885I probably damaging Het
Ifi209 C T 1: 173,468,800 (GRCm39) T210I possibly damaging Het
Kmt2c A G 5: 25,520,359 (GRCm39) V1917A probably benign Het
Mad1l1 G A 5: 140,293,458 (GRCm39) A120V probably benign Het
Mef2c T C 13: 83,810,494 (GRCm39) I382T probably damaging Het
Ms4a14 A T 19: 11,285,056 (GRCm39) L171I probably benign Het
Myf6 T A 10: 107,330,132 (GRCm39) Q145L probably damaging Het
Myh3 G A 11: 66,981,935 (GRCm39) probably benign Het
Nbas A G 12: 13,329,417 (GRCm39) I121V probably benign Het
Ncoa2 A T 1: 13,247,398 (GRCm39) S342T probably damaging Het
Nlrp1b C T 11: 71,052,741 (GRCm39) D896N possibly damaging Het
Prss41 A G 17: 24,061,498 (GRCm39) Y98H probably benign Het
Ptpn13 A T 5: 103,665,425 (GRCm39) T450S probably benign Het
Rab39 G A 9: 53,597,861 (GRCm39) R135C probably damaging Het
Radil A G 5: 142,481,097 (GRCm39) V570A probably damaging Het
Sbno1 C T 5: 124,526,668 (GRCm39) R949Q probably damaging Het
Sec61a2 T A 2: 5,887,689 (GRCm39) K98* probably null Het
Serbp1 T A 6: 67,258,807 (GRCm39) probably null Het
Serpinb3c G T 1: 107,199,457 (GRCm39) Q355K probably benign Het
Slc34a3 T G 2: 25,121,246 (GRCm39) D307A probably benign Het
Smarcad1 T A 6: 65,051,937 (GRCm39) S357T probably damaging Het
Spag17 G A 3: 99,918,075 (GRCm39) D353N possibly damaging Het
Spdl1 T A 11: 34,721,592 (GRCm39) Q39L possibly damaging Het
Syne2 A C 12: 76,104,264 (GRCm39) Q5485P probably damaging Het
Synj1 C A 16: 90,785,056 (GRCm39) V227F probably damaging Het
Syt12 T C 19: 4,506,882 (GRCm39) T88A probably benign Het
Tasor C T 14: 27,183,136 (GRCm39) Q532* probably null Het
Tlr12 A G 4: 128,509,670 (GRCm39) F860S probably damaging Het
Trdn C A 10: 33,274,410 (GRCm39) S461* probably null Het
Trip4 G A 9: 65,764,727 (GRCm39) P413S probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null Het
Wnt9a T C 11: 59,221,855 (GRCm39) L251P probably damaging Het
Xrcc1 A T 7: 24,272,719 (GRCm39) K618* probably null Het
Zfp759 T C 13: 67,286,728 (GRCm39) L93P 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
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 2016-08-02