Incidental Mutation 'IGL02618:Dnmt3l'
ID 300756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnmt3l
Ensembl Gene ENSMUSG00000000730
Gene Name DNA (cytosine-5-)-methyltransferase 3-like
Synonyms D6Ertd14e, ecat7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02618
Quality Score
Status
Chromosome 10
Chromosomal Location 78041947-78063622 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 78054022 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000746] [ENSMUST00000123940] [ENSMUST00000131825] [ENSMUST00000138785] [ENSMUST00000139539] [ENSMUST00000151242]
AlphaFold Q9CWR8
Predicted Effect probably benign
Transcript: ENSMUST00000000746
SMART Domains Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730

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 benign
Transcript: ENSMUST00000123940
SMART Domains Protein: ENSMUSP00000123015
Gene: ENSMUSG00000000730

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000131825
SMART Domains Protein: ENSMUSP00000119571
Gene: ENSMUSG00000000730

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000138785
SMART Domains Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730

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 benign
Transcript: ENSMUST00000139539
SMART Domains Protein: ENSMUSP00000117827
Gene: ENSMUSG00000000730

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144446
Predicted Effect probably benign
Transcript: ENSMUST00000151242
SMART Domains Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,057,301 Q178* probably null Het
Adgre1 T A 17: 57,444,021 V565E possibly damaging Het
Arfgef2 C A 2: 166,853,313 N535K probably damaging Het
Bbx A G 16: 50,247,798 L161S probably damaging Het
Bclaf1 T C 10: 20,323,528 S224P probably damaging Het
Car2 A G 3: 14,897,972 D189G probably benign Het
Catsperb A T 12: 101,480,724 probably benign Het
Ccdc88c C T 12: 100,913,553 V1770I probably benign Het
Cebpe T C 14: 54,710,777 D203G probably damaging Het
Chn2 A G 6: 54,220,437 N104S probably damaging Het
Clec2i G A 6: 128,896,501 C231Y probably damaging Het
Col4a5 C T X: 141,683,682 P1557S probably damaging Het
Creb3l1 T C 2: 91,983,198 N498S probably benign Het
Ctnnal1 A T 4: 56,817,060 D587E probably benign Het
Dock7 A G 4: 99,083,028 V100A probably benign Het
Frk C T 10: 34,583,964 T185I possibly damaging Het
Frmd4b G A 6: 97,308,105 Q340* probably null Het
Lima1 C A 15: 99,802,216 probably benign Het
Ndrg1 G A 15: 66,940,237 H202Y probably benign Het
Nxpe2 T G 9: 48,326,334 N207T probably damaging Het
Olfr201 A T 16: 59,268,927 S247T probably damaging Het
Pdzph1 T C 17: 58,879,073 probably benign Het
Pinx1 A G 14: 63,868,520 D75G probably damaging Het
Plxdc1 A T 11: 97,932,304 D370E probably benign Het
Polb A T 8: 22,637,093 L228Q probably damaging Het
Rab3gap2 T A 1: 185,251,741 I521N possibly damaging Het
Rapgef1 A G 2: 29,737,943 D1045G probably damaging Het
Rbks A T 5: 31,624,519 Y312* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Soga1 A G 2: 157,040,566 L522P probably damaging Het
Src A T 2: 157,464,778 K234* probably null Het
Stk36 C A 1: 74,631,675 probably benign Het
Ttll6 G T 11: 96,147,562 C412F probably benign Het
Zfp58 A G 13: 67,491,356 F339L possibly damaging Het
Other mutations in Dnmt3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Dnmt3l APN 10 78057355 missense probably damaging 1.00
IGL00827:Dnmt3l APN 10 78053996 missense probably damaging 1.00
IGL01072:Dnmt3l APN 10 78052771 missense probably benign 0.09
IGL01118:Dnmt3l APN 10 78057286 missense probably damaging 0.97
IGL01553:Dnmt3l APN 10 78063248 missense probably benign 0.00
IGL02322:Dnmt3l APN 10 78052738 missense possibly damaging 0.90
IGL02323:Dnmt3l APN 10 78063318 missense probably damaging 1.00
IGL02701:Dnmt3l APN 10 78055022 missense probably benign 0.01
IGL02950:Dnmt3l APN 10 78050951 missense probably benign 0.01
R0318:Dnmt3l UTSW 10 78055055 missense probably damaging 1.00
R0384:Dnmt3l UTSW 10 78052737 missense possibly damaging 0.95
R0391:Dnmt3l UTSW 10 78051916 splice site probably benign
R1144:Dnmt3l UTSW 10 78051905 missense probably damaging 1.00
R2069:Dnmt3l UTSW 10 78052732 missense probably damaging 1.00
R2115:Dnmt3l UTSW 10 78063296 missense probably damaging 0.99
R2116:Dnmt3l UTSW 10 78063296 missense probably damaging 0.99
R2117:Dnmt3l UTSW 10 78063296 missense probably damaging 0.99
R4812:Dnmt3l UTSW 10 78057294 missense probably benign 0.06
R5001:Dnmt3l UTSW 10 78059731 missense probably null 1.00
R5039:Dnmt3l UTSW 10 78052900 splice site probably null
R5389:Dnmt3l UTSW 10 78056831 splice site probably null
R5799:Dnmt3l UTSW 10 78052026 missense possibly damaging 0.71
R5811:Dnmt3l UTSW 10 78052095 missense possibly damaging 0.78
R5875:Dnmt3l UTSW 10 78053938 missense probably benign
R6314:Dnmt3l UTSW 10 78059687 missense probably benign 0.00
R6537:Dnmt3l UTSW 10 78052064 missense probably null 1.00
R8437:Dnmt3l UTSW 10 78052768 missense possibly damaging 0.94
R9108:Dnmt3l UTSW 10 78056922 critical splice donor site probably null
R9171:Dnmt3l UTSW 10 78059684 missense probably benign
R9205:Dnmt3l UTSW 10 78056752 critical splice donor site probably null
Posted On 2015-04-16