Mutagenetix > Incidental Mutation

Incidental Mutation 'R6003:As3mt'

478485

Institutional Source

Beutler Lab

Gene Symbol

As3mt

Ensembl Gene

ENSMUSG00000003559

Gene Name

arsenite methyltransferase

Synonyms

Cyt19, 2310045H08Rik

MMRRC Submission

043252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46695897-46729538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46696567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 35 (T35M)

Ref Sequence

ENSEMBL: ENSMUSP00000003655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003655] [ENSMUST00000074912]

AlphaFold

Q91WU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003655
AA Change: T35M

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003655
Gene: ENSMUSG00000003559
AA Change: T35M

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	34	227	2.5e-14	PFAM
Pfam:PCMT	64	183	7.7e-9	PFAM
Pfam:Ubie_methyltran	64	196	8.9e-16	PFAM
Pfam:PrmA	65	193	1.8e-6	PFAM
Pfam:Methyltransf_31	70	243	2e-36	PFAM
Pfam:Methyltransf_18	71	187	9.7e-14	PFAM
Pfam:Methyltransf_25	75	180	2.8e-15	PFAM
Pfam:Methyltransf_12	76	182	2.9e-14	PFAM
Pfam:Methyltransf_11	76	184	2.7e-19	PFAM
low complexity region	297	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074912

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele have abnormalities in arsenic methylation and in the distribution/retention of orally administered arsenate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,312 (GRCm39)	E157G	probably benign	Het
Abcb11	T	C	2: 69,073,811 (GRCm39)	K1238R	probably benign	Het
Ankar	T	A	1: 72,738,046 (GRCm39)	E45D	probably damaging	Het
Antxrl	G	T	14: 33,797,592 (GRCm39)	K522N	possibly damaging	Het
Ap1m1	A	G	8: 73,003,011 (GRCm39)	Y93C	probably damaging	Het
Aspg	T	C	12: 112,079,476 (GRCm39)	S85P	probably damaging	Het
Cachd1	T	C	4: 100,809,216 (GRCm39)	S234P	possibly damaging	Het
Ccdc3	T	C	2: 5,146,218 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,450,759 (GRCm39)	T16A	probably benign	Het
Cope	T	C	8: 70,757,285 (GRCm39)	L43P	probably benign	Het
E2f8	T	C	7: 48,520,525 (GRCm39)	M599V	probably benign	Het
Eif3a	A	T	19: 60,755,319 (GRCm39)	D954E	unknown	Het
Gfpt1	T	A	6: 87,065,230 (GRCm39)		probably null	Het
Ggps1	T	G	13: 14,228,587 (GRCm39)	S145R	probably benign	Het
Gon4l	A	G	3: 88,803,400 (GRCm39)	D1337G	probably damaging	Het
Gtf2a1l	G	T	17: 89,001,531 (GRCm39)	G82V	probably damaging	Het
Gucy1b1	C	A	3: 81,965,584 (GRCm39)	L87F	probably damaging	Het
Hoxc9	T	C	15: 102,890,311 (GRCm39)	V76A	probably benign	Het
Ints2	T	C	11: 86,129,294 (GRCm39)	E460G	probably damaging	Het
Kdm4b	C	T	17: 56,703,916 (GRCm39)	R756W	probably damaging	Het
Lax1	T	A	1: 133,611,834 (GRCm39)	I34F	probably benign	Het
Marveld3	A	T	8: 110,680,960 (GRCm39)	C312S	probably damaging	Het
Ncoa2	T	C	1: 13,237,254 (GRCm39)	D824G	possibly damaging	Het
Nrxn2	C	A	19: 6,548,358 (GRCm39)	A17D	possibly damaging	Het
Nup133	A	T	8: 124,665,031 (GRCm39)	I220N	probably damaging	Het
Nup205	T	C	6: 35,189,751 (GRCm39)	V984A	probably benign	Het
Nup54	A	T	5: 92,570,853 (GRCm39)	D318E	probably damaging	Het
Obp2a	A	T	2: 25,591,151 (GRCm39)	K94N	probably damaging	Het
Or2ak5	A	T	11: 58,611,196 (GRCm39)	I226N	probably benign	Het
Or5b3	T	C	19: 13,388,403 (GRCm39)	S157P	probably benign	Het
Pappa2	T	C	1: 158,763,820 (GRCm39)	I564V	probably benign	Het
Parpbp	A	G	10: 87,969,020 (GRCm39)	V142A	possibly damaging	Het
Rdh16f2	A	T	10: 127,712,201 (GRCm39)	R219S	probably benign	Het
Rfx6	C	T	10: 51,584,683 (GRCm39)	R228C	probably damaging	Het
Rpap2	A	G	5: 107,749,767 (GRCm39)		probably null	Het
Rskr	T	G	11: 78,183,846 (GRCm39)		probably null	Het
Slc15a2	T	C	16: 36,574,910 (GRCm39)	I531V	probably benign	Het
Srebf1	T	C	11: 60,097,930 (GRCm39)	E58G	possibly damaging	Het
Tmem214	C	A	5: 31,028,068 (GRCm39)	T96K	possibly damaging	Het
Usp19	T	C	9: 108,373,579 (GRCm39)	Y691H	probably damaging	Het
Vmn1r86	C	T	7: 12,836,125 (GRCm39)	W200*	probably null	Het
Vmn2r8	A	T	5: 108,945,248 (GRCm39)	S786R	probably damaging	Het
Vps52	T	A	17: 34,175,068 (GRCm39)	M1K	probably null	Het
Zzef1	T	A	11: 72,714,891 (GRCm39)		probably null	Het

Other mutations in As3mt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:As3mt	APN	19	46,708,864 (GRCm39)	missense	probably benign	0.06
IGL00903:As3mt	APN	19	46,700,673 (GRCm39)	missense	probably benign	0.04
IGL02190:As3mt	APN	19	46,708,384 (GRCm39)	missense	probably benign	0.38
IGL03088:As3mt	APN	19	46,696,233 (GRCm39)	missense	probably damaging	1.00
PIT4791001:As3mt	UTSW	19	46,708,788 (GRCm39)	missense	probably damaging	1.00
R1797:As3mt	UTSW	19	46,713,373 (GRCm39)	missense	possibly damaging	0.92
R2157:As3mt	UTSW	19	46,696,231 (GRCm39)	missense	probably benign	0.36
R3113:As3mt	UTSW	19	46,703,717 (GRCm39)	splice site	probably benign
R3816:As3mt	UTSW	19	46,696,216 (GRCm39)	missense	probably benign	0.32
R4819:As3mt	UTSW	19	46,695,968 (GRCm39)	unclassified	probably benign
R5053:As3mt	UTSW	19	46,697,493 (GRCm39)	missense	probably damaging	1.00
R5333:As3mt	UTSW	19	46,696,635 (GRCm39)	missense	probably null	0.97
R6269:As3mt	UTSW	19	46,708,391 (GRCm39)	missense	probably damaging	1.00
R6281:As3mt	UTSW	19	46,713,362 (GRCm39)	missense	possibly damaging	0.56
R6317:As3mt	UTSW	19	46,713,410 (GRCm39)	missense	probably benign	0.01
R6803:As3mt	UTSW	19	46,698,020 (GRCm39)	missense	probably benign	0.01
R7346:As3mt	UTSW	19	46,708,891 (GRCm39)	missense	probably damaging	1.00
R8061:As3mt	UTSW	19	46,728,982 (GRCm39)	missense	probably damaging	1.00
R8331:As3mt	UTSW	19	46,697,445 (GRCm39)	missense	probably damaging	1.00
R9545:As3mt	UTSW	19	46,696,233 (GRCm39)	missense	probably damaging	0.97
R9697:As3mt	UTSW	19	46,708,420 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGTCCTATAGAAGTCCTGCC -3'
(R):5'- GTTAGGGCAAGCAGGATGTC -3'

Sequencing Primer
(F):5'- GGTCCTATAGAAGTCCTGCCAATAAG -3'
(R):5'- GTCCAGCAGAGATGGTTAAATTTCCC -3'

Posted On

2017-06-26