Incidental Mutation 'IGL02323:Dnmt3l'
ID 288340
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 # IGL02323
Quality Score
Status
Chromosome 10
Chromosomal Location 77878121-77899456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77899152 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CWR8
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: 137,289,326 (GRCm39) E344G probably damaging Het
Actrt2 T C 4: 154,751,255 (GRCm39) T294A probably benign Het
Afg1l C A 10: 42,330,506 (GRCm39) E54* probably null Het
Ahi1 T C 10: 20,847,933 (GRCm39) I447T probably damaging Het
Akap6 T C 12: 53,187,212 (GRCm39) I1542T probably benign Het
Ankrd34c A C 9: 89,612,033 (GRCm39) S103A possibly damaging Het
Apc C T 18: 34,448,863 (GRCm39) Q1886* probably null Het
Bcas3 A G 11: 85,386,671 (GRCm39) T148A probably damaging Het
Bud13 A G 9: 46,194,350 (GRCm39) T8A probably benign Het
Casr A T 16: 36,330,072 (GRCm39) Y421N probably damaging Het
Ccdc121rt2 A G 5: 112,597,600 (GRCm39) Y49C probably benign Het
Clasp2 T C 9: 113,697,794 (GRCm39) probably benign Het
Clca4b T C 3: 144,619,082 (GRCm39) T686A probably benign Het
Cntln T A 4: 84,968,026 (GRCm39) H748Q probably benign Het
Dmtf1 A T 5: 9,170,056 (GRCm39) D683E possibly damaging Het
Eif2a T C 3: 58,456,024 (GRCm39) M341T possibly damaging Het
Epg5 T A 18: 78,056,047 (GRCm39) Y1740* probably null Het
Fam149b C T 14: 20,413,369 (GRCm39) T157I possibly damaging Het
Fam89b A G 19: 5,778,899 (GRCm39) probably null Het
Fbxo3 T A 2: 103,878,296 (GRCm39) N232K probably benign Het
Gnl3 A C 14: 30,739,359 (GRCm39) H16Q probably damaging Het
Gpld1 T G 13: 25,166,757 (GRCm39) V669G probably damaging Het
Grik3 A G 4: 125,579,783 (GRCm39) probably benign Het
Gzmg A C 14: 56,394,729 (GRCm39) Y180D probably benign Het
H2-M9 A T 17: 36,951,633 (GRCm39) Y281N probably damaging Het
Katnip T A 7: 125,442,001 (GRCm39) S637T probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mrs2 T A 13: 25,188,940 (GRCm39) I125F probably damaging Het
Nfam1 T A 15: 82,907,152 (GRCm39) N15I probably benign Het
Nol8 T A 13: 49,808,721 (GRCm39) probably benign Het
Obscn A G 11: 58,899,348 (GRCm39) V6483A possibly damaging Het
Or2a56 A T 6: 42,932,917 (GRCm39) I162F probably benign Het
Osbpl3 A G 6: 50,323,306 (GRCm39) probably null Het
Plaat3 G A 19: 7,552,357 (GRCm39) W24* probably null Het
Ppfibp2 A T 7: 107,337,836 (GRCm39) Q652H probably damaging Het
Rbm47 A G 5: 66,183,772 (GRCm39) V277A probably damaging Het
Robo3 G A 9: 37,333,497 (GRCm39) A716V probably benign Het
Scart1 G T 7: 139,808,572 (GRCm39) A828S probably benign Het
Semp2l1 A T 1: 32,584,785 (GRCm39) L375* probably null Het
Slc29a4 A G 5: 142,703,407 (GRCm39) E227G probably damaging Het
Slf1 T C 13: 77,199,413 (GRCm39) D656G possibly damaging Het
Sox1 A G 8: 12,446,692 (GRCm39) H111R possibly damaging Het
Spmip9 A G 6: 70,890,679 (GRCm39) probably benign Het
Svep1 G A 4: 58,070,236 (GRCm39) Q2517* probably null Het
Syndig1 G T 2: 149,741,707 (GRCm39) V98L probably benign Het
Synpo2 T C 3: 122,911,183 (GRCm39) E154G probably benign Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tmem200a T C 10: 25,869,328 (GRCm39) N314D probably benign Het
Tnfaip8l1 A T 17: 56,479,009 (GRCm39) T100S probably damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trim12c C T 7: 103,997,473 (GRCm39) A28T probably benign Het
Trpc7 C A 13: 56,931,564 (GRCm39) V595L possibly damaging Het
Ttc39c A G 18: 12,869,800 (GRCm39) R575G probably null Het
Ttn T G 2: 76,681,919 (GRCm39) probably benign Het
Ttn C T 2: 76,553,609 (GRCm39) V31003M probably damaging Het
Ugt2b37 A T 5: 87,398,423 (GRCm39) probably benign Het
Uqcrb A T 13: 67,050,874 (GRCm39) probably benign Het
Usp33 T A 3: 152,076,024 (GRCm39) W415R probably benign Het
Vmn2r110 A T 17: 20,816,399 (GRCm39) D41E probably damaging Het
Vmn2r98 A T 17: 19,286,113 (GRCm39) I204F 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
IGL02322:Dnmt3l APN 10 77,888,572 (GRCm39) missense possibly damaging 0.90
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