Incidental Mutation 'IGL00717:Dmc1'
ID13420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmc1
Ensembl Gene ENSMUSG00000022429
Gene NameDNA meiotic recombinase 1
SynonymsDmc1h, sgdp, Dmc1, Mei11
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.789) question?
Stock #IGL00717
Quality Score
Status
Chromosome15
Chromosomal Location79561497-79605109 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79596280 bp
ZygosityHeterozygous
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]
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 T175A probably damaging Het
Daw1 A T 1: 83,198,179 I213F probably benign Het
Fanci C T 7: 79,412,700 L353F probably damaging Het
Gm4951 A G 18: 60,246,293 E300G probably damaging Het
Gpr65 A G 12: 98,276,055 I322M probably benign Het
Herc1 A G 9: 66,485,002 D4064G probably damaging Het
Hipk3 G T 2: 104,430,231 T1089K possibly damaging Het
Mia2 A G 12: 59,160,273 probably benign Het
Rnf17 A G 14: 56,465,750 T653A probably benign Het
Slc22a8 T A 19: 8,609,929 I451K probably benign Het
Trpm5 A T 7: 143,073,990 V84E probably damaging Het
Vcam1 C A 3: 116,114,471 K647N possibly damaging Het
Other mutations in Dmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02817:Dmc1 APN 15 79588763 missense probably damaging 1.00
IGL03131:Dmc1 APN 15 79568691 missense probably benign 0.02
IGL03341:Dmc1 APN 15 79562545 missense probably benign 0.01
R0129:Dmc1 UTSW 15 79596240 splice site probably benign
R0395:Dmc1 UTSW 15 79588772 missense probably damaging 1.00
R0908:Dmc1 UTSW 15 79585689 missense probably damaging 1.00
R2219:Dmc1 UTSW 15 79585126 missense possibly damaging 0.77
R3706:Dmc1 UTSW 15 79562581 missense probably damaging 1.00
R6362:Dmc1 UTSW 15 79588823 missense probably benign 0.42
R7499:Dmc1 UTSW 15 79602420 nonsense probably null
R7619:Dmc1 UTSW 15 79596242 critical splice donor site probably null
R8270:Dmc1 UTSW 15 79601545 missense probably damaging 1.00
Posted On2012-12-06