Incidental Mutation 'IGL00160:Dnmt3l'
ID 1236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnmt3l
Ensembl Gene ENSMUSG00000000730
Gene Name DNA methyltransferase 3-like
Synonyms D6Ertd14e, ecat7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00160
Quality Score
Status
Chromosome 10
Chromosomal Location 77878121-77899456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77893189 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CWR8
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
4932414N04Rik C T 2: 68,563,219 (GRCm39) A387V probably benign Het
Adamts3 C T 5: 90,009,184 (GRCm39) V160I probably damaging Het
Arhgef26 T C 3: 62,247,804 (GRCm39) V296A probably benign Het
Bdp1 A T 13: 100,197,706 (GRCm39) M893K probably benign Het
Camk2d T A 3: 126,631,921 (GRCm39) C407* probably null Het
Ces1h T C 8: 94,084,091 (GRCm39) D373G probably benign Het
Ces2f A T 8: 105,676,605 (GRCm39) N100Y probably damaging Het
Ces2f A T 8: 105,676,604 (GRCm39) Q99H probably damaging Het
Dlg5 T C 14: 24,241,229 (GRCm39) T223A probably damaging Het
Dnai7 T A 6: 145,121,016 (GRCm39) H601L probably benign Het
Fam243 T C 16: 92,117,890 (GRCm39) K133E possibly damaging Het
Fbxl20 C T 11: 97,981,500 (GRCm39) G396D possibly damaging Het
Garre1 G A 7: 33,938,431 (GRCm39) H1035Y possibly damaging Het
Gldc T C 19: 30,092,640 (GRCm39) T760A probably damaging Het
Gm6483 T A 8: 19,741,663 (GRCm39) noncoding transcript Het
Hcrtr2 A T 9: 76,135,437 (GRCm39) V460D possibly damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mrgpra2a A T 7: 47,076,286 (GRCm39) M324K probably damaging Het
N4bp3 C T 11: 51,536,143 (GRCm39) A230T probably benign Het
Nphs1 T G 7: 30,181,976 (GRCm39) W1204G possibly damaging Het
Obscn C A 11: 58,892,883 (GRCm39) A6788S probably benign Het
Ofcc1 T C 13: 40,296,280 (GRCm39) D518G probably damaging Het
Optc T C 1: 133,829,846 (GRCm39) Y188C probably damaging Het
Prss45 C A 9: 110,670,073 (GRCm39) A285E probably damaging Het
Rcan2 C T 17: 44,347,960 (GRCm39) T223I possibly damaging Het
Snrnp70 A G 7: 45,026,778 (GRCm39) probably null Het
Sorbs1 T A 19: 40,306,473 (GRCm39) T1064S probably damaging Het
Sptb T C 12: 76,669,943 (GRCm39) K462E probably damaging Het
Sstr1 A G 12: 58,259,536 (GRCm39) E53G probably benign Het
Stxbp2 A T 8: 3,686,354 (GRCm39) probably null Het
Tex35 G A 1: 156,927,326 (GRCm39) probably benign Het
Thnsl1 T C 2: 21,217,260 (GRCm39) F338S possibly damaging Het
Trpv1 C T 11: 73,151,188 (GRCm39) A424V probably damaging Het
Unc80 A T 1: 66,693,554 (GRCm39) H2535L possibly damaging Het
Usp46 T C 5: 74,163,347 (GRCm39) E333G probably null Het
Vmn1r27 T C 6: 58,192,119 (GRCm39) Y245C probably benign Het
Zfp488 T C 14: 33,693,026 (GRCm39) M46V probably benign Het
Zfp566 G T 7: 29,777,936 (GRCm39) Q82K probably benign Het
Znhit6 T C 3: 145,283,915 (GRCm39) S62P probably damaging Het
Znrf3 T C 11: 5,239,039 (GRCm39) H108R probably damaging Het
Other mutations in Dnmt3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9473:Dnmt3l UTSW 10 77,886,022 (GRCm39) nonsense probably null
Posted On 2011-07-12