Incidental Mutation 'IGL02322:Dnmt3l'
ID 288288
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 # IGL02322
Quality Score
Status
Chromosome 10
Chromosomal Location 77878121-77899456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77888572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 158 (I158N)
Ref Sequence ENSEMBL: ENSMUSP00000116970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000746] [ENSMUST00000123940] [ENSMUST00000131825] [ENSMUST00000138785] [ENSMUST00000139539] [ENSMUST00000151242]
AlphaFold Q9CWR8
Predicted Effect possibly damaging
Transcript: ENSMUST00000000746
AA Change: I158N

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730
AA Change: I158N

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 possibly damaging
Transcript: ENSMUST00000138785
AA Change: I158N

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
AA Change: I158N

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 possibly damaging
Transcript: ENSMUST00000151242
AA Change: I158N

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730
AA Change: I158N

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 106,425,268 (GRCm39) A355V probably benign Het
Adam9 A G 8: 25,445,990 (GRCm39) V801A probably damaging Het
Ankrd36 T A 11: 5,564,619 (GRCm39) V479D possibly damaging Het
Arid5a C T 1: 36,358,497 (GRCm39) P423L probably benign Het
Atp13a4 T C 16: 29,258,920 (GRCm39) I650V probably benign Het
B4gat1 C A 19: 5,089,155 (GRCm39) P51T possibly damaging Het
Caskin2 G A 11: 115,695,303 (GRCm39) T310M probably damaging Het
Ccdc121rt1 A G 1: 181,337,999 (GRCm39) S318P possibly damaging Het
Ccdc159 G T 9: 21,840,669 (GRCm39) V79L possibly damaging Het
Ccser2 A T 14: 36,631,086 (GRCm39) V18E probably damaging Het
Cct8l1 T C 5: 25,722,581 (GRCm39) V432A probably benign Het
Cdh11 A T 8: 103,374,151 (GRCm39) F529Y probably benign Het
Cep250 A G 2: 155,832,248 (GRCm39) E1370G probably damaging Het
Col22a1 C A 15: 71,694,502 (GRCm39) G717C unknown Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Ctrb1 A C 8: 112,415,951 (GRCm39) probably null Het
Cyp2b19 T C 7: 26,461,803 (GRCm39) S208P possibly damaging Het
Evi5l T C 8: 4,237,236 (GRCm39) probably benign Het
Fkbpl A G 17: 34,864,298 (GRCm39) E22G probably benign Het
Flnb T A 14: 7,894,676 (GRCm38) F825I probably damaging Het
Gjb6 A T 14: 57,361,732 (GRCm39) N176K probably damaging Het
Gpc2 G T 5: 138,274,499 (GRCm39) probably null Het
H1f7 T C 15: 98,154,757 (GRCm39) T131A possibly damaging Het
Il20 C T 1: 130,837,313 (GRCm39) C104Y probably damaging Het
Mgat5 A G 1: 127,310,722 (GRCm39) N212S probably benign Het
Olfm5 C T 7: 103,803,608 (GRCm39) G210D probably damaging Het
Olig2 T C 16: 91,023,546 (GRCm39) S87P probably benign Het
Or2y15 A G 11: 49,350,784 (GRCm39) S93G probably benign Het
Or4c121 T A 2: 89,023,806 (GRCm39) T191S probably damaging Het
Osbpl7 G T 11: 96,946,950 (GRCm39) A418S probably benign Het
Otog G T 7: 45,950,881 (GRCm39) R2551L probably benign Het
Oxt A T 2: 130,418,200 (GRCm39) N24I probably damaging Het
Pibf1 A G 14: 99,448,419 (GRCm39) Y626C probably damaging Het
Plekhh2 A T 17: 84,896,894 (GRCm39) K934* probably null Het
Pramel14 G A 4: 143,718,591 (GRCm39) probably benign Het
Prdm9 A T 17: 15,783,110 (GRCm39) N57K probably damaging Het
Rapsn A G 2: 90,872,251 (GRCm39) D195G possibly damaging Het
Rimbp3 T G 16: 17,029,479 (GRCm39) F968V probably benign Het
Rpgrip1 A G 14: 52,387,499 (GRCm39) N1047S possibly damaging Het
Slc35g1 C T 19: 38,389,013 (GRCm39) R107* probably null Het
Ssh2 A C 11: 77,307,239 (GRCm39) probably null Het
Tiparp C A 3: 65,439,441 (GRCm39) C70* probably null Het
Vmn2r110 A G 17: 20,794,197 (GRCm39) I824T probably damaging Het
Vmn2r78 T C 7: 86,570,687 (GRCm39) S402P probably damaging Het
Vps13c A G 9: 67,845,183 (GRCm39) E2089G probably benign Het
Xirp2 A T 2: 67,339,082 (GRCm39) H441L probably benign Het
Zdhhc3 C T 9: 122,929,542 (GRCm39) G31D probably benign Het
Zfp330 A G 8: 83,497,450 (GRCm39) L64S 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
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 2015-04-16