Incidental Mutation 'IGL00717:Dmc1'
ID 13420
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 # IGL00717
Quality Score
Status
Chromosome 15
Chromosomal Location 79445698-79489310 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79480481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 97 (M97T)
Ref Sequence ENSEMBL: ENSMUSP00000154933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023065] [ENSMUST00000229408] [ENSMUST00000230011]
AlphaFold Q61880
Predicted Effect probably benign
Transcript: ENSMUST00000023065
AA Change: M97T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000023065
Gene: ENSMUSG00000022429
AA Change: M97T

DomainStartEndE-ValueType
HhH1 57 76 8.07e0 SMART
AAA 118 307 2.79e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175482
Predicted Effect probably benign
Transcript: ENSMUST00000229408
AA Change: M97T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000230011
AA Change: M97T

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casp12 A G 9: 5,352,702 (GRCm39) T175A probably damaging Het
Daw1 A T 1: 83,175,900 (GRCm39) I213F probably benign Het
Fanci C T 7: 79,062,448 (GRCm39) L353F probably damaging Het
Gpr65 A G 12: 98,242,314 (GRCm39) I322M probably benign Het
Herc1 A G 9: 66,392,284 (GRCm39) D4064G probably damaging Het
Hipk3 G T 2: 104,260,576 (GRCm39) T1089K possibly damaging Het
Iigp1c A G 18: 60,379,365 (GRCm39) E300G probably damaging Het
Mia2 A G 12: 59,207,059 (GRCm39) probably benign Het
Rnf17 A G 14: 56,703,207 (GRCm39) T653A probably benign Het
Slc22a8 T A 19: 8,587,293 (GRCm39) I451K probably benign Het
Trpm5 A T 7: 142,627,727 (GRCm39) V84E probably damaging Het
Vcam1 C A 3: 115,908,120 (GRCm39) K647N possibly damaging Het
Other mutations in Dmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9783:Dmc1 UTSW 15 79,484,296 (GRCm39) missense probably damaging 0.98
Posted On 2012-12-06