Incidental Mutation 'R1109:Dnmt1'
ID 98657
Institutional Source Beutler Lab
Gene Symbol Dnmt1
Ensembl Gene ENSMUSG00000004099
Gene Name DNA methyltransferase 1
Synonyms MTase, Dnmt1o, Cxxc9, MommeD2
MMRRC Submission 039182-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1109 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 20818501-20871084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20833684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 451 (Y451N)
Ref Sequence ENSEMBL: ENSMUSP00000136669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004202] [ENSMUST00000177754] [ENSMUST00000178110] [ENSMUST00000216540]
AlphaFold P13864
Predicted Effect probably damaging
Transcript: ENSMUST00000004202
AA Change: Y570N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000004202
Gene: ENSMUSG00000004099
AA Change: Y570N

DomainStartEndE-ValueType
DMAP_binding 16 106 1.7e-13 SMART
low complexity region 121 143 N/A INTRINSIC
low complexity region 156 166 N/A INTRINSIC
low complexity region 180 194 N/A INTRINSIC
low complexity region 273 290 N/A INTRINSIC
low complexity region 306 328 N/A INTRINSIC
Pfam:DNMT1-RFD 405 540 4.8e-46 PFAM
low complexity region 610 625 N/A INTRINSIC
Pfam:zf-CXXC 648 694 2.7e-17 PFAM
low complexity region 701 711 N/A INTRINSIC
low complexity region 719 731 N/A INTRINSIC
BAH 758 884 4.62e-31 SMART
BAH 935 1103 1.79e-37 SMART
low complexity region 1110 1124 N/A INTRINSIC
Pfam:DNA_methylase 1142 1596 1.3e-49 PFAM
low complexity region 1600 1619 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177754
AA Change: Y451N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136982
Gene: ENSMUSG00000004099
AA Change: Y451N

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
low complexity region 37 47 N/A INTRINSIC
low complexity region 61 75 N/A INTRINSIC
low complexity region 154 171 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
Pfam:DNMT1-RFD 286 421 3.4e-40 PFAM
low complexity region 491 506 N/A INTRINSIC
Pfam:zf-CXXC 529 575 2.3e-17 PFAM
low complexity region 582 592 N/A INTRINSIC
low complexity region 600 612 N/A INTRINSIC
BAH 639 765 4.62e-31 SMART
BAH 816 984 1.79e-37 SMART
low complexity region 991 1005 N/A INTRINSIC
Pfam:DNA_methylase 1023 1477 1.3e-49 PFAM
low complexity region 1481 1500 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178110
AA Change: Y451N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136669
Gene: ENSMUSG00000004099
AA Change: Y451N

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
low complexity region 38 48 N/A INTRINSIC
low complexity region 62 76 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 188 210 N/A INTRINSIC
Pfam:DNMT1-RFD 287 422 2.6e-40 PFAM
low complexity region 492 507 N/A INTRINSIC
Pfam:zf-CXXC 530 576 4.7e-17 PFAM
low complexity region 583 593 N/A INTRINSIC
low complexity region 601 613 N/A INTRINSIC
BAH 640 766 4.62e-31 SMART
BAH 817 985 1.79e-37 SMART
low complexity region 992 1006 N/A INTRINSIC
Pfam:DNA_methylase 1024 1478 8e-50 PFAM
low complexity region 1482 1501 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000216540
AA Change: Y452N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.9563 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.9%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: This gene encodes a methyltransferase that preferentially methylates cytosines of CpG residues in hemimethylated DNA to generate fully methylated CpG base pairs during DNA replication. This enzyme plays roles in diverse cellular processes including cell cycle regulation, DNA repair, and telomere maintenance. The encoded protein is composed of an N-terminal domain with a nuclear localization sequence and replication fork-targeting domain, a DNA-binding CXXC domain, two bromo-adjacent homology domains, and a C-terminal catalytic domain. Mouse embryonic stem cells mutant for this gene are viable, but when introduced into the germ line, cause a recessive lethal phenotype with mutant embryos displaying stunted growth and developmental defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci. [provided by MGI curators]
Allele List at MGI

All alleles(109) : Targeted, knock-out(5) Targeted, other(11) Gene trapped(92) Chemically induced(1)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T G 3: 121,573,245 (GRCm39) E262D probably damaging Het
Abcg1 G A 17: 31,330,210 (GRCm39) A504T probably benign Het
Acot11 T C 4: 106,606,545 (GRCm39) T515A probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Arhgap44 T A 11: 64,917,642 (GRCm39) H375L probably benign Het
Aspm A T 1: 139,384,496 (GRCm39) I98F probably damaging Het
Atp8b5 T C 4: 43,305,719 (GRCm39) probably benign Het
Coa3 T C 11: 101,169,611 (GRCm39) K48R probably damaging Het
Col12a1 A G 9: 79,607,005 (GRCm39) S473P probably damaging Het
Dock5 A G 14: 68,043,927 (GRCm39) Y819H possibly damaging Het
Dtx1 G A 5: 120,848,484 (GRCm39) probably benign Het
Dus2 T A 8: 106,780,114 (GRCm39) F479I probably benign Het
Elp1 T C 4: 56,786,723 (GRCm39) T407A probably benign Het
Esrp1 T C 4: 11,365,205 (GRCm39) E262G probably damaging Het
Exoc4 A G 6: 33,418,951 (GRCm39) Y466C probably damaging Het
Fasn A G 11: 120,703,150 (GRCm39) F1625S possibly damaging Het
Fbxw25 A T 9: 109,479,128 (GRCm39) H374Q probably benign Het
Focad T C 4: 88,114,984 (GRCm39) probably benign Het
Gad2 G T 2: 22,571,406 (GRCm39) R448L probably damaging Het
Gad2 G A 2: 22,580,171 (GRCm39) probably benign Het
Galnt16 G T 12: 80,637,405 (GRCm39) E377D probably benign Het
Gcc1 A C 6: 28,419,166 (GRCm39) L389R probably damaging Het
Ggct A T 6: 54,966,554 (GRCm39) probably benign Het
Gm7052 G A 17: 22,259,133 (GRCm39) probably benign Het
Gps2 T A 11: 69,806,507 (GRCm39) H177Q possibly damaging Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Il36a G A 2: 24,106,602 (GRCm39) G62E probably damaging Het
Il3ra C T 14: 14,349,317 (GRCm38) R138W probably damaging Het
Itprid1 G T 6: 55,945,245 (GRCm39) K655N probably damaging Het
Kdm4b T A 17: 56,706,430 (GRCm39) I848N probably damaging Het
L3hypdh A G 12: 72,120,770 (GRCm39) V327A possibly damaging Het
Lepr G T 4: 101,628,552 (GRCm39) L552F probably damaging Het
Lpin3 T C 2: 160,740,941 (GRCm39) I449T probably damaging Het
Lrrn1 A G 6: 107,544,225 (GRCm39) K8E probably benign Het
Mex3a G T 3: 88,443,967 (GRCm39) D348Y possibly damaging Het
Mindy2 G A 9: 70,538,361 (GRCm39) R325* probably null Het
Mkrn1 A T 6: 39,376,268 (GRCm39) M382K probably damaging Het
Mroh1 G T 15: 76,330,709 (GRCm39) probably benign Het
Myo15a T A 11: 60,383,892 (GRCm39) D1646E probably damaging Het
Neu2 A G 1: 87,524,450 (GRCm39) D145G probably damaging Het
Obi1 A T 14: 104,717,200 (GRCm39) L391* probably null Het
Or10ah1-ps1 A T 5: 143,123,374 (GRCm39) N216K probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2w3b T C 11: 58,623,742 (GRCm39) Y83C probably benign Het
Plekhm2 T A 4: 141,355,295 (GRCm39) I938F probably benign Het
Pnma8a A T 7: 16,695,392 (GRCm39) K416* probably null Het
Ppid T C 3: 79,506,168 (GRCm39) S198P probably benign Het
Rabl6 G T 2: 25,477,538 (GRCm39) P304Q probably damaging Het
Rasal2 A T 1: 157,005,208 (GRCm39) probably benign Het
Ripor1 G T 8: 106,345,560 (GRCm39) probably benign Het
Rnf216 A T 5: 143,054,124 (GRCm39) L658Q probably damaging Het
Safb T A 17: 56,908,228 (GRCm39) probably benign Het
Sf3b5 T C 10: 12,884,497 (GRCm39) M44T probably benign Het
Slc26a9 A T 1: 131,686,536 (GRCm39) M419L probably benign Het
Slc38a8 T C 8: 120,209,394 (GRCm39) D393G probably benign Het
Slc6a3 A G 13: 73,705,199 (GRCm39) D230G probably benign Het
Smc1b T C 15: 84,997,016 (GRCm39) T535A probably damaging Het
Smg7 G C 1: 152,721,334 (GRCm39) P626R probably damaging Het
Smu1 C T 4: 40,755,722 (GRCm39) V48M probably benign Het
Spag17 T C 3: 99,934,667 (GRCm39) Y650H possibly damaging Het
Spata1 C T 3: 146,181,053 (GRCm39) V302I possibly damaging Het
Sptb G A 12: 76,650,377 (GRCm39) A1780V probably damaging Het
Srrm2 G A 17: 24,038,591 (GRCm39) probably benign Het
Sspo A C 6: 48,474,377 (GRCm39) N4933H probably damaging Het
Sult2a2 T C 7: 13,468,798 (GRCm39) I88T probably benign Het
Tgfa G T 6: 86,247,072 (GRCm39) probably benign Het
Thsd1 T A 8: 22,733,708 (GRCm39) C252S possibly damaging Het
Tmem102 T A 11: 69,695,630 (GRCm39) H114L probably damaging Het
Tnni3k T A 3: 154,498,414 (GRCm39) K808N possibly damaging Het
Trpm7 G T 2: 126,639,713 (GRCm39) L1628M probably benign Het
Ttn A G 2: 76,561,081 (GRCm39) Y29107H probably damaging Het
Upb1 T C 10: 75,273,999 (GRCm39) L342P probably damaging Het
Vmn2r120 T C 17: 57,832,829 (GRCm39) T117A probably benign Het
Vmn2r16 A G 5: 109,487,652 (GRCm39) D175G probably damaging Het
Vps35l A T 7: 118,374,552 (GRCm39) I351F probably damaging Het
Zfhx4 T G 3: 5,464,930 (GRCm39) M1696R possibly damaging Het
Zfp746 A G 6: 48,041,856 (GRCm39) V289A possibly damaging Het
Zfyve26 A C 12: 79,318,901 (GRCm39) F1146V probably damaging Het
Other mutations in Dnmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Dnmt1 APN 9 20,821,566 (GRCm39) missense possibly damaging 0.94
IGL01093:Dnmt1 APN 9 20,821,081 (GRCm39) missense possibly damaging 0.88
IGL01160:Dnmt1 APN 9 20,828,615 (GRCm39) missense possibly damaging 0.90
IGL01704:Dnmt1 APN 9 20,821,476 (GRCm39) missense probably damaging 1.00
IGL02105:Dnmt1 APN 9 20,819,178 (GRCm39) missense unknown
IGL02124:Dnmt1 APN 9 20,819,845 (GRCm39) missense probably damaging 1.00
IGL02188:Dnmt1 APN 9 20,853,034 (GRCm39) nonsense probably null
IGL02409:Dnmt1 APN 9 20,837,793 (GRCm39) missense probably benign 0.00
IGL02579:Dnmt1 APN 9 20,829,416 (GRCm39) missense possibly damaging 0.79
IGL02625:Dnmt1 APN 9 20,838,442 (GRCm39) missense probably benign 0.01
IGL02794:Dnmt1 APN 9 20,847,847 (GRCm39) missense probably benign
IGL02795:Dnmt1 APN 9 20,838,407 (GRCm39) missense probably benign 0.12
IGL02938:Dnmt1 APN 9 20,852,669 (GRCm39) missense probably benign 0.23
IGL03245:Dnmt1 APN 9 20,827,056 (GRCm39) missense probably damaging 0.99
IGL03303:Dnmt1 APN 9 20,838,006 (GRCm39) missense probably benign
Blankslate UTSW 9 20,823,521 (GRCm39) missense possibly damaging 0.86
Midrash UTSW 9 20,821,089 (GRCm39) nonsense probably null
Rashi UTSW 9 20,833,408 (GRCm39) missense possibly damaging 0.94
B5639:Dnmt1 UTSW 9 20,819,264 (GRCm39) splice site probably benign
BB003:Dnmt1 UTSW 9 20,818,855 (GRCm39) missense unknown
BB013:Dnmt1 UTSW 9 20,818,855 (GRCm39) missense unknown
PIT4576001:Dnmt1 UTSW 9 20,823,071 (GRCm39) missense probably benign 0.28
R0071:Dnmt1 UTSW 9 20,819,916 (GRCm39) missense probably damaging 0.99
R0180:Dnmt1 UTSW 9 20,819,916 (GRCm39) missense probably damaging 0.99
R0368:Dnmt1 UTSW 9 20,853,053 (GRCm39) missense probably damaging 0.99
R0387:Dnmt1 UTSW 9 20,829,509 (GRCm39) missense probably damaging 1.00
R0529:Dnmt1 UTSW 9 20,822,846 (GRCm39) missense probably damaging 1.00
R0532:Dnmt1 UTSW 9 20,829,852 (GRCm39) splice site probably benign
R0612:Dnmt1 UTSW 9 20,829,489 (GRCm39) missense probably damaging 0.98
R1298:Dnmt1 UTSW 9 20,852,752 (GRCm39) missense probably benign
R1345:Dnmt1 UTSW 9 20,819,814 (GRCm39) missense probably damaging 1.00
R1472:Dnmt1 UTSW 9 20,843,472 (GRCm39) missense probably benign 0.28
R1654:Dnmt1 UTSW 9 20,847,870 (GRCm39) missense possibly damaging 0.75
R1817:Dnmt1 UTSW 9 20,838,422 (GRCm39) missense probably benign
R1836:Dnmt1 UTSW 9 20,829,542 (GRCm39) missense probably damaging 1.00
R1957:Dnmt1 UTSW 9 20,838,442 (GRCm39) missense probably benign 0.01
R1958:Dnmt1 UTSW 9 20,838,442 (GRCm39) missense probably benign 0.01
R2097:Dnmt1 UTSW 9 20,821,084 (GRCm39) missense probably benign 0.00
R2145:Dnmt1 UTSW 9 20,848,451 (GRCm39) splice site probably benign
R2326:Dnmt1 UTSW 9 20,835,442 (GRCm39) splice site probably benign
R4199:Dnmt1 UTSW 9 20,849,414 (GRCm39) missense probably benign 0.00
R4456:Dnmt1 UTSW 9 20,821,138 (GRCm39) missense probably damaging 1.00
R4518:Dnmt1 UTSW 9 20,823,274 (GRCm39) missense probably benign 0.00
R4586:Dnmt1 UTSW 9 20,837,989 (GRCm39) missense probably benign 0.05
R4836:Dnmt1 UTSW 9 20,819,854 (GRCm39) missense probably damaging 1.00
R5014:Dnmt1 UTSW 9 20,823,550 (GRCm39) missense probably benign 0.07
R5338:Dnmt1 UTSW 9 20,864,015 (GRCm39) missense probably benign 0.44
R5385:Dnmt1 UTSW 9 20,829,776 (GRCm39) missense probably damaging 1.00
R5579:Dnmt1 UTSW 9 20,831,501 (GRCm39) missense probably damaging 1.00
R5645:Dnmt1 UTSW 9 20,833,443 (GRCm39) missense probably damaging 1.00
R5719:Dnmt1 UTSW 9 20,823,891 (GRCm39) missense possibly damaging 0.86
R5881:Dnmt1 UTSW 9 20,864,013 (GRCm39) missense probably damaging 0.97
R6039:Dnmt1 UTSW 9 20,837,716 (GRCm39) intron probably benign
R6039:Dnmt1 UTSW 9 20,837,716 (GRCm39) intron probably benign
R6143:Dnmt1 UTSW 9 20,838,430 (GRCm39) missense probably benign 0.30
R6342:Dnmt1 UTSW 9 20,821,089 (GRCm39) nonsense probably null
R6374:Dnmt1 UTSW 9 20,835,341 (GRCm39) missense possibly damaging 0.73
R6953:Dnmt1 UTSW 9 20,829,822 (GRCm39) missense probably benign
R6990:Dnmt1 UTSW 9 20,827,110 (GRCm39) nonsense probably null
R7089:Dnmt1 UTSW 9 20,819,785 (GRCm39) missense probably damaging 0.99
R7463:Dnmt1 UTSW 9 20,823,521 (GRCm39) missense possibly damaging 0.86
R7522:Dnmt1 UTSW 9 20,831,498 (GRCm39) missense probably damaging 0.99
R7695:Dnmt1 UTSW 9 20,825,281 (GRCm39) missense probably null 1.00
R7785:Dnmt1 UTSW 9 20,833,345 (GRCm39) missense probably damaging 0.98
R7926:Dnmt1 UTSW 9 20,818,855 (GRCm39) missense unknown
R8037:Dnmt1 UTSW 9 20,852,860 (GRCm39) missense probably damaging 0.99
R8038:Dnmt1 UTSW 9 20,852,860 (GRCm39) missense probably damaging 0.99
R8424:Dnmt1 UTSW 9 20,829,836 (GRCm39) missense probably benign 0.07
R8692:Dnmt1 UTSW 9 20,853,077 (GRCm39) missense probably damaging 1.00
R9016:Dnmt1 UTSW 9 20,847,855 (GRCm39) missense possibly damaging 0.67
R9101:Dnmt1 UTSW 9 20,852,839 (GRCm39) missense probably damaging 1.00
R9200:Dnmt1 UTSW 9 20,819,896 (GRCm39) missense probably benign 0.00
R9248:Dnmt1 UTSW 9 20,833,408 (GRCm39) missense possibly damaging 0.94
R9317:Dnmt1 UTSW 9 20,829,575 (GRCm39) missense probably damaging 0.99
R9352:Dnmt1 UTSW 9 20,840,384 (GRCm39) missense probably benign 0.00
R9438:Dnmt1 UTSW 9 20,827,190 (GRCm39) missense probably benign
RF003:Dnmt1 UTSW 9 20,821,427 (GRCm39) nonsense probably null
RF004:Dnmt1 UTSW 9 20,821,423 (GRCm39) nonsense probably null
RF011:Dnmt1 UTSW 9 20,821,440 (GRCm39) nonsense probably null
RF011:Dnmt1 UTSW 9 20,821,424 (GRCm39) nonsense probably null
RF015:Dnmt1 UTSW 9 20,821,425 (GRCm39) nonsense probably null
RF015:Dnmt1 UTSW 9 20,821,420 (GRCm39) nonsense probably null
RF017:Dnmt1 UTSW 9 20,821,422 (GRCm39) nonsense probably null
RF023:Dnmt1 UTSW 9 20,821,427 (GRCm39) nonsense probably null
RF024:Dnmt1 UTSW 9 20,821,434 (GRCm39) small insertion probably benign
RF024:Dnmt1 UTSW 9 20,821,426 (GRCm39) nonsense probably null
RF025:Dnmt1 UTSW 9 20,821,431 (GRCm39) nonsense probably null
RF025:Dnmt1 UTSW 9 20,821,416 (GRCm39) nonsense probably null
RF029:Dnmt1 UTSW 9 20,821,419 (GRCm39) nonsense probably null
RF034:Dnmt1 UTSW 9 20,821,416 (GRCm39) nonsense probably null
RF037:Dnmt1 UTSW 9 20,821,437 (GRCm39) nonsense probably null
RF037:Dnmt1 UTSW 9 20,821,429 (GRCm39) nonsense probably null
RF037:Dnmt1 UTSW 9 20,821,415 (GRCm39) critical splice donor site probably benign
RF042:Dnmt1 UTSW 9 20,821,415 (GRCm39) nonsense probably null
RF045:Dnmt1 UTSW 9 20,821,433 (GRCm39) small insertion probably benign
RF045:Dnmt1 UTSW 9 20,821,425 (GRCm39) nonsense probably null
RF047:Dnmt1 UTSW 9 20,821,421 (GRCm39) nonsense probably null
RF048:Dnmt1 UTSW 9 20,821,422 (GRCm39) nonsense probably null
RF054:Dnmt1 UTSW 9 20,821,435 (GRCm39) nonsense probably null
RF055:Dnmt1 UTSW 9 20,821,432 (GRCm39) small insertion probably benign
RF055:Dnmt1 UTSW 9 20,821,431 (GRCm39) nonsense probably null
RF055:Dnmt1 UTSW 9 20,821,424 (GRCm39) nonsense probably null
RF059:Dnmt1 UTSW 9 20,821,434 (GRCm39) small insertion probably benign
RF059:Dnmt1 UTSW 9 20,821,435 (GRCm39) nonsense probably null
RF060:Dnmt1 UTSW 9 20,821,438 (GRCm39) nonsense probably null
RF061:Dnmt1 UTSW 9 20,821,426 (GRCm39) nonsense probably null
X0026:Dnmt1 UTSW 9 20,825,210 (GRCm39) missense probably damaging 1.00
Z1176:Dnmt1 UTSW 9 20,837,850 (GRCm39) missense probably benign 0.00
Z1176:Dnmt1 UTSW 9 20,827,159 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGATTGCCTCCTCTGGTCTCAAGC -3'
(R):5'- TTGATGGAGCCCAGCAAAGAGTATG -3'

Sequencing Primer
(F):5'- GGTCTCAAGCCTCCAATCTG -3'
(R):5'- acccctgcctagaactcc -3'
Posted On 2014-01-05