Incidental Mutation 'R9473:Dnmt3l'
ID 715580
Institutional Source Beutler Lab
Gene Symbol Dnmt3l
Ensembl Gene ENSMUSG00000000730
Gene Name DNA methyltransferase 3-like
Synonyms D6Ertd14e, ecat7
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9473 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 77878121-77899456 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 77886022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 36 (Q36*)
Ref Sequence ENSEMBL: ENSMUSP00000000746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000746] [ENSMUST00000138785] [ENSMUST00000151242]
AlphaFold Q9CWR8
Predicted Effect probably null
Transcript: ENSMUST00000000746
AA Change: Q36*
SMART Domains Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730
AA Change: Q36*

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
PDB:2PVC|C 38 415 1e-163 PDB
SCOP:d1fp0a1 123 191 5e-3 SMART
Blast:RING 130 179 1e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000138785
AA Change: Q36*
SMART Domains Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
AA Change: Q36*

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
PDB:2PVC|C 38 415 1e-163 PDB
SCOP:d1fp0a1 123 191 5e-3 SMART
Blast:RING 130 179 1e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000151242
AA Change: Q36*
SMART Domains Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730
AA Change: Q36*

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
PDB:2PVC|C 38 415 1e-163 PDB
SCOP:d1fp0a1 123 191 5e-3 SMART
Blast:RING 130 179 1e-18 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
Validation Efficiency
MGI Phenotype FUNCTION: CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein that is a catalytically inactive regulatory factor of DNA methyltransferases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutants in this imprinted gene lack appropriate methylation of the maternal allele and this, in turn, causes azoospermia in homozygous males; and heterozygous progeny of homozygous females die by midgestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,980,912 (GRCm39) P107L probably benign Het
Abcc10 T C 17: 46,617,609 (GRCm39) N1142S probably benign Het
Accsl T C 2: 93,686,092 (GRCm39) H575R probably benign Het
Adgra2 T A 8: 27,610,943 (GRCm39) L964Q probably damaging Het
Akap5 T C 12: 76,376,632 (GRCm39) L688P probably damaging Het
Anapc10 A G 8: 80,501,673 (GRCm39) N147S probably damaging Het
Atm C T 9: 53,410,272 (GRCm39) E1059K probably benign Het
Bltp2 G A 11: 78,174,983 (GRCm39) R1706H probably damaging Het
Bmf A C 2: 118,363,104 (GRCm39) F251V probably benign Het
Capn3 G T 2: 120,326,535 (GRCm39) E576* probably null Het
Capns2 T C 8: 93,628,854 (GRCm39) *248R probably null Het
Ceacam13 G T 7: 17,747,281 (GRCm39) V245L probably benign Het
Clcn3 T C 8: 61,407,651 (GRCm39) D2G probably benign Het
Dcstamp G A 15: 39,617,972 (GRCm39) C127Y probably damaging Het
Dpys A G 15: 39,687,583 (GRCm39) I405T possibly damaging Het
Duoxa1 A G 2: 122,134,326 (GRCm39) I309T probably benign Het
Eif2b1 G A 5: 124,712,677 (GRCm39) Q156* probably null Het
Eif3l T A 15: 78,970,704 (GRCm39) M326K probably damaging Het
Fbxl13 T C 5: 21,790,243 (GRCm39) N267D possibly damaging Het
Fip1l1 C T 5: 74,745,719 (GRCm39) T372I probably damaging Het
Galt A G 4: 41,757,575 (GRCm39) N249S probably benign Het
Gm17324 G T 9: 78,355,839 (GRCm39) R47S unknown Het
Gm45871 T G 18: 90,609,093 (GRCm39) D110E probably benign Het
Gtf2ird1 T A 5: 134,433,534 (GRCm39) T298S probably benign Het
Ighv7-4 T C 12: 114,186,722 (GRCm39) I17V probably benign Het
Krt7 C T 15: 101,318,409 (GRCm39) R299W probably damaging Het
Macc1 A G 12: 119,297,990 (GRCm39) probably benign Het
Mturn G A 6: 54,666,009 (GRCm39) E61K probably benign Het
Nol11 T C 11: 107,075,581 (GRCm39) D149G probably null Het
Nr4a3 A T 4: 48,052,143 (GRCm39) N299I probably damaging Het
Pip5k1b A T 19: 24,335,590 (GRCm39) I351N probably damaging Het
Plce1 G A 19: 38,766,337 (GRCm39) E2121K possibly damaging Het
Pramel11 T G 4: 143,620,815 (GRCm39) T468P probably benign Het
Rdh19 A G 10: 127,696,177 (GRCm39) T310A probably benign Het
Rflnb T A 11: 75,913,064 (GRCm39) Y108F probably damaging Het
Rfx1 A T 8: 84,819,903 (GRCm39) I713F probably damaging Het
Saxo5 G A 8: 3,529,232 (GRCm39) C239Y probably benign Het
Scgn T C 13: 24,143,731 (GRCm39) probably null Het
Serpina1d T C 12: 103,729,939 (GRCm39) *414W probably null Het
Slc18a3 T C 14: 32,185,913 (GRCm39) I157V probably benign Het
Steap1 T C 5: 5,790,378 (GRCm39) Y190C probably damaging Het
Svep1 A G 4: 58,064,243 (GRCm39) S3247P probably benign Het
Syne1 T C 10: 5,198,258 (GRCm39) I3778V probably benign Het
Tas2r114 T C 6: 131,666,104 (GRCm39) D308G probably benign Het
Tpm2 A T 4: 43,514,813 (GRCm39) L274* probably null Het
Ttc39b A G 4: 83,181,977 (GRCm39) F81L possibly damaging Het
Ttn A G 2: 76,547,338 (GRCm39) V32236A probably damaging Het
Ubr5 A G 15: 38,002,617 (GRCm39) V1472A Het
Ugt2b1 A T 5: 87,065,539 (GRCm39) V500D possibly damaging Het
Vpreb1b G A 16: 17,798,565 (GRCm39) C17Y probably benign Het
Wscd1 A G 11: 71,679,644 (GRCm39) N506D probably damaging Het
Other mutations in Dnmt3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Dnmt3l APN 10 77,893,189 (GRCm39) missense probably damaging 1.00
IGL00827:Dnmt3l APN 10 77,889,830 (GRCm39) missense probably damaging 1.00
IGL01072:Dnmt3l APN 10 77,888,605 (GRCm39) missense probably benign 0.09
IGL01118:Dnmt3l APN 10 77,893,120 (GRCm39) missense probably damaging 0.97
IGL01553:Dnmt3l APN 10 77,899,082 (GRCm39) missense probably benign 0.00
IGL02322:Dnmt3l APN 10 77,888,572 (GRCm39) missense possibly damaging 0.90
IGL02323:Dnmt3l APN 10 77,899,152 (GRCm39) missense probably damaging 1.00
IGL02618:Dnmt3l APN 10 77,889,856 (GRCm39) splice site probably benign
IGL02701:Dnmt3l APN 10 77,890,856 (GRCm39) missense probably benign 0.01
IGL02950:Dnmt3l APN 10 77,886,785 (GRCm39) missense probably benign 0.01
R0318:Dnmt3l UTSW 10 77,890,889 (GRCm39) missense probably damaging 1.00
R0384:Dnmt3l UTSW 10 77,888,571 (GRCm39) missense possibly damaging 0.95
R0391:Dnmt3l UTSW 10 77,887,750 (GRCm39) splice site probably benign
R1144:Dnmt3l UTSW 10 77,887,739 (GRCm39) missense probably damaging 1.00
R2069:Dnmt3l UTSW 10 77,888,566 (GRCm39) missense probably damaging 1.00
R2115:Dnmt3l UTSW 10 77,899,130 (GRCm39) missense probably damaging 0.99
R2116:Dnmt3l UTSW 10 77,899,130 (GRCm39) missense probably damaging 0.99
R2117:Dnmt3l UTSW 10 77,899,130 (GRCm39) missense probably damaging 0.99
R4812:Dnmt3l UTSW 10 77,893,128 (GRCm39) missense probably benign 0.06
R5001:Dnmt3l UTSW 10 77,895,565 (GRCm39) missense probably null 1.00
R5039:Dnmt3l UTSW 10 77,888,734 (GRCm39) splice site probably null
R5389:Dnmt3l UTSW 10 77,892,665 (GRCm39) splice site probably null
R5799:Dnmt3l UTSW 10 77,887,860 (GRCm39) missense possibly damaging 0.71
R5811:Dnmt3l UTSW 10 77,887,929 (GRCm39) missense possibly damaging 0.78
R5875:Dnmt3l UTSW 10 77,889,772 (GRCm39) missense probably benign
R6314:Dnmt3l UTSW 10 77,895,521 (GRCm39) missense probably benign 0.00
R6537:Dnmt3l UTSW 10 77,887,898 (GRCm39) missense probably null 1.00
R8437:Dnmt3l UTSW 10 77,888,602 (GRCm39) missense possibly damaging 0.94
R9108:Dnmt3l UTSW 10 77,892,756 (GRCm39) critical splice donor site probably null
R9171:Dnmt3l UTSW 10 77,895,518 (GRCm39) missense probably benign
R9205:Dnmt3l UTSW 10 77,892,586 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTAGGGTTCTGACGACCCTG -3'
(R):5'- AGGGGCTGCAATATTAGCTTTG -3'

Sequencing Primer
(F):5'- TGACGACCCTGCTGTCACAC -3'
(R):5'- CAGTCCCAGACAACATGTTTTTGGG -3'
Posted On 2022-06-15