Incidental Mutation 'R4692:N6amt1'
ID 354998
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 041943-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4692 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 87151073-87165537 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87153854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
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
AA Change: V97A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000061835
Gene: ENSMUSG00000044442
AA Change: V97A

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
AA Change: V97A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113217
Gene: ENSMUSG00000044442
AA Change: V97A

DomainStartEndE-ValueType
Pfam:MTS 21 179 2e-14 PFAM
Pfam:Methyltransf_26 46 175 1.6e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118310
AA Change: V97A

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113229
Gene: ENSMUSG00000044442
AA Change: V97A

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 possibly damaging
Transcript: ENSMUST00000120284
AA Change: V97A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112510
Gene: ENSMUSG00000044442
AA Change: V97A

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: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,849,882 (GRCm39) Y230* probably null Het
9230104M06Rik A T 12: 112,963,692 (GRCm39) probably benign Het
Arhgap20 A G 9: 51,697,088 (GRCm39) D53G probably damaging Het
Arl2 T C 19: 6,187,776 (GRCm39) T54A probably damaging Het
Baz2a G A 10: 127,960,762 (GRCm39) G1521S probably damaging Het
Begain A G 12: 108,999,818 (GRCm39) S523P probably damaging Het
Car10 T C 11: 93,075,984 (GRCm39) probably null Het
Cenpe A G 3: 134,922,140 (GRCm39) I66V probably benign Het
Col14a1 T A 15: 55,286,864 (GRCm39) V895E unknown Het
Coro1b T C 19: 4,199,418 (GRCm39) Y26H probably damaging Het
Crebbp T C 16: 3,932,727 (GRCm39) E1017G possibly damaging Het
Cwf19l2 T C 9: 3,428,709 (GRCm39) S232P probably damaging Het
Cyp7b1 T A 3: 18,126,728 (GRCm39) I473F probably damaging Het
Efcab5 A T 11: 77,004,507 (GRCm39) I937N probably damaging Het
Fam53c A C 18: 34,901,743 (GRCm39) E220A probably damaging Het
Gsn A G 2: 35,188,883 (GRCm39) Y434C probably damaging Het
Igkv2-137 T C 6: 67,532,971 (GRCm39) S45P possibly damaging Het
Katnip T C 7: 125,466,841 (GRCm39) probably null Het
Kif13b C A 14: 65,041,024 (GRCm39) T1704K probably benign Het
Mapk7 A G 11: 61,380,068 (GRCm39) S697P possibly damaging Het
Mrgpra1 T A 7: 46,985,446 (GRCm39) I78F probably damaging Het
Oas3 T C 5: 120,907,420 (GRCm39) T406A probably benign Het
Or4f61 A G 2: 111,923,026 (GRCm39) S7P probably damaging Het
Or8c17 C T 9: 38,179,826 (GRCm39) Q6* probably null Het
Paxip1 T C 5: 27,977,095 (GRCm39) probably benign Het
Pfn4 A T 12: 4,824,486 (GRCm39) Y71F probably damaging Het
Plin4 C A 17: 56,410,762 (GRCm39) G1090C probably damaging Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Rbl2 T A 8: 91,849,047 (GRCm39) D1084E probably damaging Het
Robo1 T G 16: 72,757,090 (GRCm39) S350R probably damaging Het
Sbno2 A G 10: 79,922,161 (GRCm39) V4A possibly damaging Het
Sh3rf1 T C 8: 61,806,888 (GRCm39) probably null Het
Smgc T C 15: 91,738,764 (GRCm39) V474A possibly damaging Het
Snx13 A G 12: 35,136,917 (GRCm39) D126G possibly damaging Het
Sox9 C A 11: 112,673,803 (GRCm39) H131Q probably benign Het
Spag6 T C 2: 18,704,054 (GRCm39) I34T probably benign Het
Speer2 T A 16: 69,654,860 (GRCm39) T202S possibly damaging Het
Sspo T A 6: 48,459,621 (GRCm39) C3327S probably damaging Het
Vcpip1 G T 1: 9,818,299 (GRCm39) A28E unknown Het
Vstm5 A T 9: 15,168,718 (GRCm39) D94V probably damaging Het
Zfp329 T C 7: 12,544,559 (GRCm39) K322E probably damaging Het
Zfp932 G A 5: 110,157,052 (GRCm39) G250D probably damaging Het
Zscan26 A G 13: 21,629,427 (GRCm39) C359R probably damaging Het
Other mutations in N6amt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1079:N6amt1 UTSW 16 87,153,086 (GRCm39) missense probably damaging 0.98
R3028:N6amt1 UTSW 16 87,159,536 (GRCm39) missense probably benign 0.00
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 PCR Primer
(F):5'- TGTTCGAGTTAAGAAAGCATTCCTAA -3'
(R):5'- GTCAACCGGTAACTCCAGCA -3'

Sequencing Primer
(F):5'- TAACTTTACCCCAGCAGGAGTCTG -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'
Posted On 2015-10-21