Incidental Mutation 'IGL03341:Dmc1'
ID417224
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 #IGL03341
Quality Score
Status
Chromosome15
Chromosomal Location79561497-79605109 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79562545 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 276 (T276A)
Ref Sequence ENSEMBL: ENSMUSP00000155228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023065] [ENSMUST00000229408] [ENSMUST00000230011]
Predicted Effect probably benign
Transcript: ENSMUST00000023065
AA Change: T331A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023065
Gene: ENSMUSG00000022429
AA Change: T331A

DomainStartEndE-ValueType
HhH1 57 76 8.07e0 SMART
AAA 118 307 2.79e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229408
AA Change: T276A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C T 2: 35,375,894 V255I possibly damaging Het
Acvrl1 T A 15: 101,137,596 N334K probably damaging Het
Arhgef5 T A 6: 43,280,651 I1284N probably damaging Het
Asns C A 6: 7,682,002 R236L probably damaging Het
Barx2 T C 9: 31,858,794 E146G probably damaging Het
Ccl7 A G 11: 82,045,835 S18G probably benign Het
Cilp A T 9: 65,278,002 T460S probably benign Het
Cpa5 A G 6: 30,626,291 Y217C possibly damaging Het
Dgkh T A 14: 78,595,491 probably benign Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gstm2 T C 3: 107,984,205 Y93C possibly damaging Het
Hc A T 2: 35,003,377 I1274N probably damaging Het
Htra1 A G 7: 130,981,714 I355V probably benign Het
Ifi214 G T 1: 173,526,516 T196K possibly damaging Het
Ms4a5 T C 19: 11,279,378 T52A probably benign Het
Mtx3 T C 13: 92,847,883 F191L probably damaging Het
Padi2 A G 4: 140,927,113 M192V probably benign Het
Pdcl3 C A 1: 38,995,895 Q178K probably benign Het
Rap1gap2 G A 11: 74,435,714 R176W probably damaging Het
Ska2 A G 11: 87,116,164 T32A probably benign Het
Slc6a18 G T 13: 73,677,923 Q3K probably benign Het
Slc7a14 T C 3: 31,238,770 Y122C probably damaging Het
Svep1 T A 4: 58,070,308 K2493* probably null Het
Trpm6 T A 19: 18,813,486 N628K probably benign Het
Ttc17 T A 2: 94,375,221 N260I probably damaging Het
Ttc7b T C 12: 100,325,735 I193V possibly damaging Het
Ttn T A 2: 76,712,239 T25141S possibly damaging Het
Zfhx4 A C 3: 5,411,850 Q3150P probably damaging Het
Other mutations in Dmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Dmc1 APN 15 79596280 missense probably benign 0.11
IGL02817:Dmc1 APN 15 79588763 missense probably damaging 1.00
IGL03131:Dmc1 APN 15 79568691 missense probably benign 0.02
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 On2016-08-02