Incidental Mutation 'IGL00160:Dnmt3l'
ID1236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnmt3l
Ensembl Gene ENSMUSG00000000730
Gene NameDNA (cytosine-5-)-methyltransferase 3-like
SynonymsD6Ertd14e, ecat7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00160
Quality Score
Status
Chromosome10
Chromosomal Location78041947-78063622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78057355 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 322 (D322G)
Ref Sequence ENSEMBL: ENSMUSP00000116970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000746] [ENSMUST00000123940] [ENSMUST00000131825] [ENSMUST00000138785] [ENSMUST00000139539] [ENSMUST00000151242]
Predicted Effect probably damaging
Transcript: ENSMUST00000000746
AA Change: D322G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730
AA Change: D322G

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 damaging
Transcript: ENSMUST00000123940
AA Change: D27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123015
Gene: ENSMUSG00000000730
AA Change: D27G

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000131825
AA Change: D27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119571
Gene: ENSMUSG00000000730
AA Change: D27G

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000138785
AA Change: D322G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
AA Change: D322G

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 damaging
Transcript: ENSMUST00000139539
AA Change: D27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117827
Gene: ENSMUSG00000000730
AA Change: D27G

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144446
Predicted Effect probably damaging
Transcript: ENSMUST00000151242
AA Change: D322G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730
AA Change: D322G

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik T C 16: 92,321,002 K133E possibly damaging Het
4931406P16Rik G A 7: 34,239,006 H1035Y possibly damaging Het
4932414N04Rik C T 2: 68,732,875 A387V probably benign Het
Adamts3 C T 5: 89,861,325 V160I probably damaging Het
Arhgef26 T C 3: 62,340,383 V296A probably benign Het
Bdp1 A T 13: 100,061,198 M893K probably benign Het
Camk2d T A 3: 126,838,272 C407* probably null Het
Casc1 T A 6: 145,175,290 H601L probably benign Het
Ces1h T C 8: 93,357,463 D373G probably benign Het
Ces2f A T 8: 104,949,973 N100Y probably damaging Het
Ces2f A T 8: 104,949,972 Q99H probably damaging Het
Dlg5 T C 14: 24,191,161 T223A probably damaging Het
Fbxl20 C T 11: 98,090,674 G396D possibly damaging Het
Gldc T C 19: 30,115,240 T760A probably damaging Het
Gm6483 T A 8: 19,691,647 noncoding transcript Het
Hcrtr2 A T 9: 76,228,155 V460D possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mrgpra2a A T 7: 47,426,538 M324K probably damaging Het
N4bp3 C T 11: 51,645,316 A230T probably benign Het
Nphs1 T G 7: 30,482,551 W1204G possibly damaging Het
Obscn C A 11: 59,002,057 A6788S probably benign Het
Ofcc1 T C 13: 40,142,804 D518G probably damaging Het
Optc T C 1: 133,902,108 Y188C probably damaging Het
Prss45 C A 9: 110,841,005 A285E probably damaging Het
Rcan2 C T 17: 44,037,069 T223I possibly damaging Het
Snrnp70 A G 7: 45,377,354 probably null Het
Sorbs1 T A 19: 40,318,029 T1064S probably damaging Het
Sptb T C 12: 76,623,169 K462E probably damaging Het
Sstr1 A G 12: 58,212,750 E53G probably benign Het
Stxbp2 A T 8: 3,636,354 probably null Het
Tex35 G A 1: 157,099,756 probably benign Het
Thnsl1 T C 2: 21,212,449 F338S possibly damaging Het
Trpv1 C T 11: 73,260,362 A424V probably damaging Het
Unc80 A T 1: 66,654,395 H2535L possibly damaging Het
Usp46 T C 5: 74,002,686 E333G probably null Het
Vmn1r27 T C 6: 58,215,134 Y245C probably benign Het
Zfp488 T C 14: 33,971,069 M46V probably benign Het
Zfp566 G T 7: 30,078,511 Q82K probably benign Het
Znhit6 T C 3: 145,578,160 S62P probably damaging Het
Znrf3 T C 11: 5,289,039 H108R probably damaging Het
Other mutations in Dnmt3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02618:Dnmt3l APN 10 78054022 splice site probably benign
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
Posted On2011-07-12