Mutagenetix > Incidental Mutation

Incidental Mutation 'R8084:N6amt1'

629555

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

067517-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8084 (G1)

Quality Score

104.008

Status

Validated

Chromosome

Chromosomal Location

87151073-87165537 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87151228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 30 (F30L)

Ref Sequence

ENSEMBL: ENSMUSP00000061835 (fasta)

Gene Model

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

AlphaFold

Q6SKR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000054442
AA Change: F30L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061835
Gene: ENSMUSG00000044442
AA Change: F30L

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

probably damaging
Transcript: ENSMUST00000118115
AA Change: F30L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113217
Gene: ENSMUSG00000044442
AA Change: F30L

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: F30L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113229
Gene: ENSMUSG00000044442
AA Change: F30L

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: F30L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112510
Gene: ENSMUSG00000044442
AA Change: F30L

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.2%

Validation Efficiency

100% (75/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,323,979 (GRCm39)	Y190N	probably benign	Het
Acsl3	G	A	1: 78,669,844 (GRCm39)	D238N	probably damaging	Het
Acss1	T	A	2: 150,484,701 (GRCm39)	I181F	probably damaging	Het
Ano5	A	G	7: 51,229,287 (GRCm39)	I610V	probably benign	Het
Anxa6	A	T	11: 54,894,834 (GRCm39)	F256I	probably damaging	Het
Ash2l	A	G	8: 26,321,322 (GRCm39)	S273P	probably benign	Het
Baz2b	T	G	2: 59,792,580 (GRCm39)	E516A	probably benign	Het
Bbs2	G	T	8: 94,814,056 (GRCm39)	D187E	probably damaging	Het
Cacna1b	T	A	2: 24,575,808 (GRCm39)	M747L	probably benign	Het
Cacna2d4	C	A	6: 119,277,313 (GRCm39)	D675E	probably damaging	Het
Calcr	G	A	6: 3,687,615 (GRCm39)	T461M	probably benign	Het
Catip	A	G	1: 74,403,515 (GRCm39)	K126E	probably damaging	Het
Chga	T	C	12: 102,528,328 (GRCm39)	I273T	probably benign	Het
Clasp2	G	A	9: 113,676,823 (GRCm39)	V185I	probably benign	Het
Cracr2a	A	G	6: 127,616,135 (GRCm39)	N370S	probably benign	Het
Crygc	A	T	1: 65,110,981 (GRCm39)	V102D	probably benign	Het
Ddx23	A	G	15: 98,556,145 (GRCm39)	S58P	unknown	Het
Dlgap5	C	T	14: 47,645,298 (GRCm39)	G281D	probably benign	Het
Dnah5	A	T	15: 28,388,099 (GRCm39)	Y3186F	probably damaging	Het
Dpp6	A	C	5: 27,836,397 (GRCm39)	I296L	probably benign	Het
Elfn2	C	T	15: 78,556,660 (GRCm39)	R629H	probably damaging	Het
Eml2	G	T	7: 18,915,149 (GRCm39)		probably null	Het
Fitm1	T	A	14: 55,813,906 (GRCm39)	V134E	probably damaging	Het
Flnb	A	G	14: 7,907,243 (GRCm38)	N1272S	probably benign	Het
Fuca1	G	A	4: 135,662,114 (GRCm39)	W347*	probably null	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gls2	G	A	10: 128,035,125 (GRCm39)	R86H	probably damaging	Het
Grin2b	T	C	6: 135,710,486 (GRCm39)	K1020R	probably benign	Het
H2-DMb1	T	A	17: 34,376,327 (GRCm39)	W149R	probably damaging	Het
Herc1	T	A	9: 66,383,217 (GRCm39)	S3629R	probably benign	Het
Itih4	A	T	14: 30,621,400 (GRCm39)	N821I	possibly damaging	Het
Kmt2d	A	T	15: 98,739,945 (GRCm39)	L4731Q	unknown	Het
Loxhd1	A	T	18: 77,427,845 (GRCm39)	I472F	possibly damaging	Het
Lrp2	C	A	2: 69,339,713 (GRCm39)	C1066F	probably damaging	Het
Mllt10	T	A	2: 18,114,637 (GRCm39)	F114I	probably damaging	Het
N4bp1	T	C	8: 87,587,636 (GRCm39)	E434G	probably benign	Het
Naca	G	A	10: 127,877,400 (GRCm39)	V811I	unknown	Het
Nobox	A	C	6: 43,282,101 (GRCm39)	I324S	possibly damaging	Het
Nup210l	T	C	3: 90,043,365 (GRCm39)	S442P	probably benign	Het
Or6c2	A	T	10: 129,362,809 (GRCm39)	T238S	probably damaging	Het
Osbpl1a	A	T	18: 13,038,099 (GRCm39)	L284Q	probably damaging	Het
Pals1	A	T	12: 78,867,625 (GRCm39)	Q336L	probably benign	Het
Pcdhb20	A	C	18: 37,639,226 (GRCm39)	Y584S	possibly damaging	Het
Pgpep1l	A	T	7: 67,887,519 (GRCm39)	F27Y	probably benign	Het
Pik3cg	T	G	12: 32,245,687 (GRCm39)	I854L	probably benign	Het
Pot1a	C	T	6: 25,771,535 (GRCm39)	V229M	possibly damaging	Het
Prh1	C	T	6: 132,548,822 (GRCm39)	P110S	unknown	Het
Prkag3	C	T	1: 74,786,366 (GRCm39)	C193Y	probably damaging	Het
Prl2c5	T	C	13: 13,360,539 (GRCm39)	F69L	probably benign	Het
Ptprq	T	C	10: 107,444,294 (GRCm39)	T1437A	probably benign	Het
Rabgap1	T	C	2: 37,427,317 (GRCm39)	Y633H	probably damaging	Het
Rad54l2	G	A	9: 106,590,701 (GRCm39)	T475I	possibly damaging	Het
Retreg1	C	A	15: 25,969,885 (GRCm39)	A130E	probably benign	Het
Rps6kb1	G	T	11: 86,426,262 (GRCm39)	H56N	probably benign	Het
Sars2	A	G	7: 28,449,710 (GRCm39)	H385R	probably damaging	Het
Sbpl	T	G	17: 24,172,244 (GRCm39)	N225T	unknown	Het
Scml4	T	C	10: 42,806,602 (GRCm39)		probably null	Het
Scrib	G	A	15: 75,937,940 (GRCm39)	T302M	probably benign	Het
Sdk2	G	A	11: 113,717,915 (GRCm39)	T1483I	possibly damaging	Het
Sh3bgrl3	A	G	4: 133,855,390 (GRCm39)	S19P	probably damaging	Het
Slc10a6	C	T	5: 103,760,327 (GRCm39)	V223I	probably benign	Het
Slc4a3	A	G	1: 75,532,589 (GRCm39)	T950A	probably benign	Het
Spats2	A	T	15: 99,064,961 (GRCm39)	D9V	possibly damaging	Het
Sphk1	A	T	11: 116,425,904 (GRCm39)		probably null	Het
Tex10	A	T	4: 48,431,066 (GRCm39)	S897R	probably benign	Het
Tmco3	T	C	8: 13,353,873 (GRCm39)	V395A	probably damaging	Het
Ttc7b	A	G	12: 100,350,432 (GRCm39)	L478P	probably damaging	Het
Ubac2	T	C	14: 122,220,717 (GRCm39)	M184T	probably benign	Het
Wdr95	T	C	5: 149,511,598 (GRCm39)	S433P	probably damaging	Het
Zfp202	T	A	9: 40,122,538 (GRCm39)	H433Q	probably benign	Het
Zfp526	G	T	7: 24,924,737 (GRCm39)	R332L	probably damaging	Het

Other mutations in N6amt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9434:N6amt1	UTSW	16	87,159,421 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTGAAAACGGATGTTAGAGGTTGC -3'
(R):5'- TCTCTGCTGTCAATCACCAG -3'

Sequencing Primer
(F):5'- GTTGCTTAAAAGTTCCAGAGAGCCC -3'
(R):5'- TCTGCTGTCAATCACCAGAAAGTAG -3'

Posted On

2020-06-30