Incidental Mutation 'R3028:N6amt1'
ID 477712
Institutional Source Beutler Lab
Gene Symbol N6amt1
Ensembl Gene ENSMUSG00000044442
Gene Name N-6 adenine-specific DNA methyltransferase 1 (putative)
Synonyms 5830445C04Rik, Hemk2, Pred28
MMRRC Submission 040544-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3028 (G1)
Quality Score 214
Status Not validated
Chromosome 16
Chromosomal Location 87151073-87165537 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 87159536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 147 (H147Q)
Ref Sequence ENSEMBL: ENSMUSP00000112510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054442] [ENSMUST00000118115] [ENSMUST00000118310] [ENSMUST00000120284]
AlphaFold Q6SKR2
Predicted Effect probably benign
Transcript: ENSMUST00000054442
SMART Domains Protein: ENSMUSP00000061835
Gene: ENSMUSG00000044442

DomainStartEndE-ValueType
Pfam:MTS 26 202 4.2e-12 PFAM
Pfam:Methyltransf_26 45 175 6.7e-15 PFAM
Pfam:Methyltransf_31 45 213 5.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118115
SMART Domains Protein: ENSMUSP00000113217
Gene: ENSMUSG00000044442

DomainStartEndE-ValueType
Pfam:MTS 21 179 2e-14 PFAM
Pfam:Methyltransf_26 46 175 1.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118310
SMART Domains Protein: ENSMUSP00000113229
Gene: ENSMUSG00000044442

DomainStartEndE-ValueType
Pfam:MTS 20 137 1.7e-12 PFAM
Pfam:PrmA 27 123 6.9e-7 PFAM
Pfam:Methyltransf_26 45 137 2.7e-13 PFAM
Pfam:Methyltransf_25 49 138 6.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120284
AA Change: H147Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112510
Gene: ENSMUSG00000044442
AA Change: H147Q

DomainStartEndE-ValueType
Pfam:MTS 20 150 3.4e-12 PFAM
Pfam:PrmA 27 123 1.4e-6 PFAM
Pfam:Methyltransf_26 46 148 1.4e-12 PFAM
Pfam:Methyltransf_25 49 147 1.7e-7 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele fail to form a primitive streak and die between E7.5 and E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 T G 8: 18,753,560 (GRCm39) K289Q probably benign Het
Avl9 T A 6: 56,707,672 (GRCm39) probably benign Het
Crybg2 A G 4: 133,801,095 (GRCm39) K752E probably benign Het
Cyp4a10 T C 4: 115,375,628 (GRCm39) F37S possibly damaging Het
Gtpbp1 C T 15: 79,600,080 (GRCm39) T369I possibly damaging Het
Hcrtr1 C A 4: 130,029,604 (GRCm39) R159L probably benign Het
Hipk3 T C 2: 104,264,135 (GRCm39) I809V probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhdc4 C T 8: 122,526,288 (GRCm39) V284M probably damaging Het
Pdgfra A T 5: 75,335,642 (GRCm39) H425L probably damaging Het
Phlpp2 C T 8: 110,634,245 (GRCm39) A240V probably damaging Het
Ppib A T 9: 65,973,589 (GRCm39) K181* probably null Het
Rab11fip3 A G 17: 26,234,916 (GRCm39) probably null Het
Sftpc A T 14: 70,758,865 (GRCm39) H161Q probably benign Het
Sigirr A G 7: 140,672,192 (GRCm39) L251P probably damaging Het
Skint6 A T 4: 113,093,690 (GRCm39) M151K possibly damaging Het
Spc24 AGAGGTAGTCACTGA AGA 9: 21,667,511 (GRCm39) probably null Het
Speer3 T A 5: 13,845,445 (GRCm39) N159K probably damaging Het
Spire1 A C 18: 67,624,417 (GRCm39) S581A probably damaging Het
Susd6 C T 12: 80,921,234 (GRCm39) T277I probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Other mutations in N6amt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1079:N6amt1 UTSW 16 87,153,086 (GRCm39) missense probably damaging 0.98
R4692:N6amt1 UTSW 16 87,153,854 (GRCm39) missense possibly damaging 0.65
R5324:N6amt1 UTSW 16 87,151,241 (GRCm39) missense probably damaging 1.00
R5686:N6amt1 UTSW 16 87,151,223 (GRCm39) missense probably damaging 1.00
R7001:N6amt1 UTSW 16 87,151,180 (GRCm39) missense probably benign 0.30
R7223:N6amt1 UTSW 16 87,159,548 (GRCm39) makesense probably null
R7419:N6amt1 UTSW 16 87,164,454 (GRCm39) missense possibly damaging 0.63
R8084:N6amt1 UTSW 16 87,151,228 (GRCm39) missense probably damaging 1.00
R9434:N6amt1 UTSW 16 87,159,421 (GRCm39) missense possibly damaging 0.90
Predicted Primers
Posted On 2017-05-15