Mutagenetix > Incidental Mutation

Incidental Mutation 'R1079:N6amt1'

85803

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

039165-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87151073-87165537 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87153086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 52 (V52A)

Ref Sequence

ENSEMBL: ENSMUSP00000113229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054442] [ENSMUST00000118115] [ENSMUST00000118310] [ENSMUST00000120284]

AlphaFold

Q6SKR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000054442
AA Change: V52A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061835
Gene: ENSMUSG00000044442
AA Change: V52A

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000118115
AA Change: V52A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113217
Gene: ENSMUSG00000044442
AA Change: V52A

Domain	Start	End	E-Value	Type
Pfam:MTS	21	179	2e-14	PFAM
Pfam:Methyltransf_26	46	175	1.6e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118310
AA Change: V52A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113229
Gene: ENSMUSG00000044442
AA Change: V52A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000120284
AA Change: V52A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112510
Gene: ENSMUSG00000044442
AA Change: V52A

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.6034

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	C	7: 30,399,209 (GRCm39)	M1T	probably null	Het
Adam25	T	C	8: 41,208,513 (GRCm39)	V593A	possibly damaging	Het
Agrn	C	T	4: 156,261,682 (GRCm39)	C536Y	probably damaging	Het
Amigo3	T	C	9: 107,931,051 (GRCm39)	M158T	probably benign	Het
Arsa	G	A	15: 89,358,428 (GRCm39)		probably benign	Het
Baz1a	T	A	12: 54,941,785 (GRCm39)	I1474L	possibly damaging	Het
Cfap144	A	G	11: 58,692,620 (GRCm39)	Y36H	probably benign	Het
Cfap65	A	G	1: 74,944,872 (GRCm39)	V1455A	probably damaging	Het
Cfap65	G	A	1: 74,941,606 (GRCm39)	A1776V	probably damaging	Het
Cnot6	G	T	11: 49,575,930 (GRCm39)	D176E	probably benign	Het
Crot	A	T	5: 9,043,504 (GRCm39)		probably null	Het
Cryba2	A	T	1: 74,929,717 (GRCm39)	V140E	probably damaging	Het
Dennd4b	G	A	3: 90,178,485 (GRCm39)	R516K	probably benign	Het
Dst	C	A	1: 34,225,944 (GRCm39)	T1697N	possibly damaging	Het
Eftud2	G	T	11: 102,730,870 (GRCm39)	Y837*	probably null	Het
Evpl	G	T	11: 116,120,894 (GRCm39)	T447K	possibly damaging	Het
Fndc3a	A	T	14: 72,827,247 (GRCm39)	M146K	possibly damaging	Het
Folh1	G	T	7: 86,421,089 (GRCm39)	T80K	probably damaging	Het
Gm4922	T	A	10: 18,660,086 (GRCm39)	Y212F	probably damaging	Het
Gtf2i	T	G	5: 134,271,748 (GRCm39)		probably benign	Het
Hipk3	A	G	2: 104,302,043 (GRCm39)	F50L	probably benign	Het
Ifit1bl2	T	A	19: 34,596,885 (GRCm39)	T244S	probably benign	Het
Ikzf2	T	C	1: 69,578,264 (GRCm39)	D341G	possibly damaging	Het
Kif3a	G	C	11: 53,461,408 (GRCm39)	V17L	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lzts2	T	A	19: 45,011,983 (GRCm39)	N137K	probably damaging	Het
Mphosph8	T	A	14: 56,911,716 (GRCm39)	D246E	probably damaging	Het
Myh14	T	C	7: 44,279,426 (GRCm39)	E918G	probably damaging	Het
Npr2	A	C	4: 43,643,654 (GRCm39)	T561P	probably damaging	Het
Nudt12	G	A	17: 59,318,032 (GRCm39)		probably benign	Het
Or10ad1	A	C	15: 98,106,223 (GRCm39)	V14G	probably damaging	Het
Or5w8	A	G	2: 87,687,699 (GRCm39)	Y60C	probably damaging	Het
Or6n2	A	T	1: 173,897,032 (GRCm39)	H56L	possibly damaging	Het
Or8k22	T	A	2: 86,163,185 (GRCm39)	R172W	probably damaging	Het
Pan2	A	G	10: 128,154,107 (GRCm39)	T1050A	probably damaging	Het
Rad17	G	T	13: 100,770,407 (GRCm39)	D213E	probably benign	Het
Sall2	T	A	14: 52,550,660 (GRCm39)	H843L	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3e	A	T	5: 14,275,669 (GRCm39)	N258I	probably benign	Het
Siglec1	G	A	2: 130,921,297 (GRCm39)	R625*	probably null	Het
Slc15a3	T	C	19: 10,833,344 (GRCm39)	S454P	probably benign	Het
Sp110	G	A	1: 85,516,825 (GRCm39)		probably benign	Het
Spatc1l	T	C	10: 76,399,741 (GRCm39)	S88P	probably damaging	Het
Ssh3	A	C	19: 4,316,577 (GRCm39)	L143R	probably damaging	Het
Ttn	C	T	2: 76,587,340 (GRCm39)		probably benign	Het
Vps35	A	G	8: 86,005,683 (GRCm39)	L306S	probably damaging	Het
Zfp729a	T	C	13: 67,767,794 (GRCm39)	I812V	possibly damaging	Het

Other mutations in N6amt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3028:N6amt1	UTSW	16	87,159,536 (GRCm39)	missense	probably benign	0.00
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

PCR Primer
(F):5'- TGCCCAACACAGTACTCTCGTAGG -3'
(R):5'- GAGCTGCAAGAAACACATTTGTCCC -3'

Sequencing Primer
(F):5'- TACTCTCGTAGGGAGAGAGGTC -3'
(R):5'- CCAGCATAAGCTGTGACTTG -3'

Posted On

2013-11-18