Incidental Mutation 'R6561:Dnmt3c'
ID 543544
Institutional Source Beutler Lab
Gene Symbol Dnmt3c
Ensembl Gene ENSMUSG00000082079
Gene Name DNA methyltransferase 3C
Synonyms Gm14490, Dnmt3b-ps1, Dnmt3c-ps
MMRRC Submission 044685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6561 (G1)
Quality Score 43.0073
Status Validated
Chromosome 2
Chromosomal Location 153548404-153571933 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153561950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 551 (L551Q)
Ref Sequence ENSEMBL: ENSMUSP00000153622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119996]
AlphaFold P0DOY1
Predicted Effect probably damaging
Transcript: ENSMUST00000119996
AA Change: L551Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 97% (30/31)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU or endonuclease-mediated mutation alleles exhibit reduced transposon and retrotransposons in male germ cells, male infertility, meiotic arrest, azoospermia and hypogonadism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,977,825 (GRCm39) I468F probably benign Het
Ahsa2 T A 11: 23,441,036 (GRCm39) I202F possibly damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Anapc1 A G 2: 128,505,919 (GRCm39) V639A probably damaging Het
Cdh12 A G 15: 21,492,680 (GRCm39) Y233C probably damaging Het
Dchs2 G T 3: 83,036,476 (GRCm39) V408F probably benign Het
Dock2 A G 11: 34,578,365 (GRCm39) F746S probably damaging Het
Fastkd3 C T 13: 68,732,149 (GRCm39) R157C possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ier3ip1 T A 18: 77,027,344 (GRCm39) S58T probably damaging Het
Itpr2 A G 6: 146,135,504 (GRCm39) V1809A probably damaging Het
Kif22 T A 7: 126,630,225 (GRCm39) N437I probably benign Het
Klri1 A G 6: 129,693,964 (GRCm39) V41A probably benign Het
Lrrc14 T A 15: 76,597,646 (GRCm39) D125E possibly damaging Het
Nek10 A T 14: 14,828,448 (GRCm38) N90I possibly damaging Het
Nostrin G A 2: 69,011,201 (GRCm39) A331T probably benign Het
Or4k2 T C 14: 50,423,775 (GRCm39) K300E probably damaging Het
Or5b109 A G 19: 13,212,394 (GRCm39) Y260C probably damaging Het
Or8b12i T C 9: 20,082,073 (GRCm39) T265A probably benign Het
Plxna1 A G 6: 89,333,960 (GRCm39) V223A probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Skic3 T A 13: 76,298,638 (GRCm39) S1115T probably damaging Het
Smg1 A T 7: 117,765,300 (GRCm39) probably benign Het
Sorbs1 A G 19: 40,314,496 (GRCm39) I772T probably benign Het
Sptbn2 A G 19: 4,797,954 (GRCm39) N1927S probably benign Het
Tab1 T C 15: 80,033,031 (GRCm39) V105A probably benign Het
Trbv15 A T 6: 41,118,414 (GRCm39) T57S probably benign Het
Vmn1r78 A T 7: 11,886,826 (GRCm39) I146F probably damaging Het
Vmn2r39 T A 7: 9,018,092 (GRCm39) Y748F probably damaging Het
Zfp493 T A 13: 67,934,338 (GRCm39) V65D possibly damaging Het
Other mutations in Dnmt3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0479:Dnmt3c UTSW 2 153,556,861 (GRCm39) splice site probably null
R1167:Dnmt3c UTSW 2 153,553,701 (GRCm39) critical splice donor site probably null
R4469:Dnmt3c UTSW 2 153,562,280 (GRCm39) missense possibly damaging 0.94
R6198:Dnmt3c UTSW 2 153,561,929 (GRCm39) missense noncoding transcript
R7030:Dnmt3c UTSW 2 153,559,345 (GRCm39) missense probably damaging 1.00
R7135:Dnmt3c UTSW 2 153,556,872 (GRCm39) splice site probably null
R7296:Dnmt3c UTSW 2 153,556,946 (GRCm39) missense probably benign 0.08
R9655:Dnmt3c UTSW 2 153,561,914 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GTGCATGCACATGTATACACAC -3'
(R):5'- GAGCAGCAGAGCATTGTTCG -3'

Sequencing Primer
(F):5'- TTGCATGGCAAGTACCTGAAC -3'
(R):5'- AGAGCATTGTTCGCTGCC -3'
Posted On 2019-02-27