Mutagenetix > Incidental Mutation

Incidental Mutation 'R6281:As3mt'

507980

Institutional Source

Beutler Lab

Gene Symbol

As3mt

Ensembl Gene

ENSMUSG00000003559

Gene Name

arsenite methyltransferase

Synonyms

Cyt19, 2310045H08Rik

MMRRC Submission

044451-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6281 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46695897-46729538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46713362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 303 (V303A)

Ref Sequence

ENSEMBL: ENSMUSP00000003655 (fasta)

Gene Model

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

AlphaFold

Q91WU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003655
AA Change: V303A

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000003655
Gene: ENSMUSG00000003559
AA Change: V303A

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

Meta Mutation Damage Score

0.0992

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (40/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,258,620 (GRCm39)	C166F	probably damaging	Het
Aida	C	T	1: 183,103,145 (GRCm39)	A237V	probably damaging	Het
Ankib1	T	C	5: 3,751,965 (GRCm39)	T692A	possibly damaging	Het
Bhlhe40	T	A	6: 108,641,423 (GRCm39)		probably null	Het
Bhmt2	G	A	13: 93,799,668 (GRCm39)	P256L	probably damaging	Het
Bpifb1	T	C	2: 154,048,385 (GRCm39)	I140T	probably damaging	Het
Cat	A	T	2: 103,302,114 (GRCm39)	H194Q	probably damaging	Het
Cbfa2t3	C	A	8: 123,360,148 (GRCm39)	R466L	probably damaging	Het
Fancm	T	C	12: 65,135,044 (GRCm39)	V279A	probably damaging	Het
Gabra2	T	C	5: 71,192,105 (GRCm39)	T75A	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm3512	T	A	14: 7,159,254 (GRCm38)	D7V	possibly damaging	Het
Gpr15	A	G	16: 58,538,957 (GRCm39)	F44S	probably damaging	Het
Ighv1-72	C	A	12: 115,722,023 (GRCm39)	C5F	probably benign	Het
Lilra6	A	G	7: 3,914,972 (GRCm39)	L474P	probably damaging	Het
Mboat2	T	C	12: 25,007,678 (GRCm39)	V297A	probably benign	Het
Muc2	C	G	7: 141,306,140 (GRCm39)	C276W	probably damaging	Het
Ncor1	T	C	11: 62,264,371 (GRCm39)	S141G	possibly damaging	Het
Or4k77	T	C	2: 111,199,894 (GRCm39)	*306R	probably null	Het
Or5p80	T	G	7: 108,229,609 (GRCm39)	S137A	probably benign	Het
Pax5	T	G	4: 44,691,955 (GRCm39)	E97A	probably benign	Het
Pcdhga11	A	T	18: 37,890,426 (GRCm39)	D478V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phf21b	G	T	15: 84,738,946 (GRCm39)	D38E	probably benign	Het
Ptcd1	T	C	5: 145,101,881 (GRCm39)	K146R	probably benign	Het
Rad23a	A	T	8: 85,564,739 (GRCm39)	M166K	probably damaging	Het
Rfc4	A	T	16: 22,936,816 (GRCm39)		probably null	Het
Slc17a3	T	A	13: 24,040,782 (GRCm39)	I336N	probably benign	Het
Slc2a12	T	A	10: 22,541,219 (GRCm39)	M358K	probably damaging	Het
Stk31	T	G	6: 49,446,114 (GRCm39)	M939R	possibly damaging	Het
Tecrl	T	A	5: 83,442,453 (GRCm39)	T167S	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Ttn	C	T	2: 76,772,172 (GRCm39)	V2577M	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vezt	G	A	10: 93,809,808 (GRCm39)	R578C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vwa3b	T	A	1: 37,163,063 (GRCm39)	L562Q	probably damaging	Het
Zfyve27	T	A	19: 42,171,194 (GRCm39)	N127K	probably damaging	Het
Znfx1	A	G	2: 166,897,805 (GRCm39)	F373S	probably damaging	Het
Zswim8	G	A	14: 20,764,708 (GRCm39)	V693I	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
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
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
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'- GCCCAGCTCAGGATATTTTCTC -3'
(R):5'- CTAAAAGTGGGTTGCAGTGGC -3'

Sequencing Primer
(F):5'- CTCTCTAATAAGACTGAAGAGCTGG -3'
(R):5'- CCAACTGCGAAGAAAGTTGTTGTC -3'

Posted On

2018-03-15