Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00903:As3mt'

29490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

As3mt

Ensembl Gene

ENSMUSG00000003559

Gene Name

arsenite methyltransferase

Synonyms

Cyt19, 2310045H08Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00903

Quality Score

Status

Chromosome

Chromosomal Location

46695897-46729538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46700673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 159 (I159V)

Ref Sequence

ENSEMBL: ENSMUSP00000003655 (fasta)

Gene Model

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

AlphaFold

Q91WU5

Predicted Effect

probably benign
Transcript: ENSMUST00000003655
AA Change: I159V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000003655
Gene: ENSMUSG00000003559
AA Change: I159V

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

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsk	A	G	13: 76,246,487 (GRCm39)		probably null	Het
Atpsckmt	T	C	15: 31,606,261 (GRCm39)	V73A	possibly damaging	Het
Ctsll3	C	A	13: 60,948,075 (GRCm39)	V201L	probably benign	Het
Dapk1	T	C	13: 60,909,211 (GRCm39)	Y1275H	probably damaging	Het
Erap1	G	A	13: 74,821,826 (GRCm39)	R727H	probably benign	Het
Fcrl6	T	A	1: 172,426,674 (GRCm39)	T91S	probably benign	Het
Gvin1	T	C	7: 105,757,377 (GRCm39)	E2364G	probably benign	Het
Hacd3	T	C	9: 64,911,535 (GRCm39)		probably benign	Het
Hcls1	T	A	16: 36,776,383 (GRCm39)		probably null	Het
Igf2r	C	T	17: 12,902,754 (GRCm39)	R2432H	possibly damaging	Het
Kif27	C	A	13: 58,492,486 (GRCm39)	V218F	possibly damaging	Het
Klhl20	T	C	1: 160,918,076 (GRCm39)	Y70C	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Lcn12	G	T	2: 25,383,332 (GRCm39)	N15K	possibly damaging	Het
Mrgpra1	T	C	7: 46,985,326 (GRCm39)	M118V	probably benign	Het
Nacad	G	T	11: 6,550,632 (GRCm39)	T853K	probably damaging	Het
Nos3	A	T	5: 24,574,860 (GRCm39)	Q293L	probably damaging	Het
Prkca	C	T	11: 107,874,800 (GRCm39)	V381M	probably damaging	Het
Ptcd3	A	G	6: 71,884,828 (GRCm39)	F37S	possibly damaging	Het
Ptgs2	A	G	1: 149,980,175 (GRCm39)	Y371C	probably damaging	Het
Pygl	T	C	12: 70,254,516 (GRCm39)	Y143C	probably damaging	Het
Samhd1	A	G	2: 156,949,343 (GRCm39)		probably benign	Het
Scube1	T	A	15: 83,587,702 (GRCm39)	H89L	probably damaging	Het
Tmem59l	G	A	8: 70,938,315 (GRCm39)		probably benign	Het
Vmn2r108	A	G	17: 20,682,774 (GRCm39)	V810A	probably damaging	Het
Vmn2r61	T	G	7: 41,949,935 (GRCm39)	F785C	probably damaging	Het
Zfas1	G	T	2: 166,907,406 (GRCm39)		probably benign	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
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
R6003:As3mt	UTSW	19	46,696,567 (GRCm39)	missense	possibly damaging	0.85
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

Posted On

2013-04-17