Incidental Mutation 'IGL02323:Dnmt3l'
ID288340
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 #IGL02323
Quality Score
Status
Chromosome10
Chromosomal Location78041947-78063622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78063318 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 117 (K117R)
Ref Sequence ENSEMBL: ENSMUSP00000119571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000746] [ENSMUST00000123940] [ENSMUST00000131825] [ENSMUST00000138785] [ENSMUST00000139539] [ENSMUST00000151242]
Predicted Effect probably damaging
Transcript: ENSMUST00000000746
AA Change: K412R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730
AA Change: K412R

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: K117R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123015
Gene: ENSMUSG00000000730
AA Change: K117R

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000131825
AA Change: K117R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119571
Gene: ENSMUSG00000000730
AA Change: K117R

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000138785
AA Change: K412R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
AA Change: K412R

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: K117R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117827
Gene: ENSMUSG00000000730
AA Change: K117R

DomainStartEndE-ValueType
PDB:2QRV|G 1 120 1e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000151242
AA Change: K412R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730
AA Change: K412R

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,291,064 E344G probably damaging Het
Actrt2 T C 4: 154,666,798 T294A probably benign Het
Afg1l C A 10: 42,454,510 E54* probably null Het
Ahi1 T C 10: 20,972,034 I447T probably damaging Het
Akap6 T C 12: 53,140,429 I1542T probably benign Het
Ankrd34c A C 9: 89,729,980 S103A possibly damaging Het
Apc C T 18: 34,315,810 Q1886* probably null Het
Bcas3 A G 11: 85,495,845 T148A probably damaging Het
Bud13 A G 9: 46,283,052 T8A probably benign Het
Casr A T 16: 36,509,710 Y421N probably damaging Het
Cd163l1 G T 7: 140,228,659 A828S probably benign Het
Clasp2 T C 9: 113,868,726 probably benign Het
Clca4b T C 3: 144,913,321 T686A probably benign Het
Cntln T A 4: 85,049,789 H748Q probably benign Het
D430042O09Rik T A 7: 125,842,829 S637T probably benign Het
Dmtf1 A T 5: 9,120,056 D683E possibly damaging Het
Eif2a T C 3: 58,548,603 M341T possibly damaging Het
Epg5 T A 18: 78,012,832 Y1740* probably null Het
Fam149b C T 14: 20,363,301 T157I possibly damaging Het
Fam89b A G 19: 5,728,871 probably null Het
Fbxo3 T A 2: 104,047,951 N232K probably benign Het
Gm5415 A T 1: 32,545,704 L375* probably null Het
Gm6588 A G 5: 112,449,734 Y49C probably benign Het
Gnl3 A C 14: 31,017,402 H16Q probably damaging Het
Gpld1 T G 13: 24,982,774 V669G probably damaging Het
Grik3 A G 4: 125,685,990 probably benign Het
Gzmg A C 14: 56,157,272 Y180D probably benign Het
H2-M9 A T 17: 36,640,741 Y281N probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mrs2 T A 13: 25,004,957 I125F probably damaging Het
Nfam1 T A 15: 83,022,951 N15I probably benign Het
Nol8 T A 13: 49,655,245 probably benign Het
Obscn A G 11: 59,008,522 V6483A possibly damaging Het
Olfr444 A T 6: 42,955,983 I162F probably benign Het
Osbpl3 A G 6: 50,346,326 probably null Het
Pla2g16 G A 19: 7,574,992 W24* probably null Het
Ppfibp2 A T 7: 107,738,629 Q652H probably damaging Het
Rbm47 A G 5: 66,026,429 V277A probably damaging Het
Robo3 G A 9: 37,422,201 A716V probably benign Het
Slc29a4 A G 5: 142,717,652 E227G probably damaging Het
Slf1 T C 13: 77,051,294 D656G possibly damaging Het
Sox1 A G 8: 12,396,692 H111R possibly damaging Het
Svep1 G A 4: 58,070,236 Q2517* probably null Het
Syndig1 G T 2: 149,899,787 V98L probably benign Het
Synpo2 T C 3: 123,117,534 E154G probably benign Het
Tex37 A G 6: 70,913,695 probably benign Het
Tkt G A 14: 30,571,035 G490S possibly damaging Het
Tmem200a T C 10: 25,993,430 N314D probably benign Het
Tnfaip8l1 A T 17: 56,172,009 T100S probably damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Trim12c C T 7: 104,348,266 A28T probably benign Het
Trpc7 C A 13: 56,783,751 V595L possibly damaging Het
Ttc39c A G 18: 12,736,743 R575G probably null Het
Ttn T G 2: 76,851,575 probably benign Het
Ttn C T 2: 76,723,265 V31003M probably damaging Het
Ugt2b37 A T 5: 87,250,564 probably benign Het
Uqcrb A T 13: 66,902,810 probably benign Het
Usp33 T A 3: 152,370,387 W415R probably benign Het
Vmn2r110 A T 17: 20,596,137 D41E probably damaging Het
Vmn2r98 A T 17: 19,065,851 I204F probably 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
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 On2015-04-16