Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4791001:As3mt'

556994

Institutional Source

Beutler Lab

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 #

PIT4791001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46695897-46729538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46708788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 261 (F261I)

Ref Sequence

ENSEMBL: ENSMUSP00000003655 (fasta)

Gene Model

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

AlphaFold

Q91WU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000003655
AA Change: F261I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003655
Gene: ENSMUSG00000003559
AA Change: F261I

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

1x: 93.5%
3x: 90.8%
10x: 83.3%
20x: 68.6%

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
Ago2	G	A	15: 72,993,089 (GRCm39)	T472I	possibly damaging	Het
Ambp	T	A	4: 63,072,298 (GRCm39)		probably benign	Het
Atxn1l	A	G	8: 110,458,579 (GRCm39)	L561P	probably damaging	Het
Cnr2	A	G	4: 135,644,263 (GRCm39)	T114A	probably damaging	Het
Dchs1	A	G	7: 105,408,178 (GRCm39)	Y1885H	probably damaging	Het
Dcn	A	G	10: 97,343,604 (GRCm39)	N188S	probably benign	Het
Dennd6b	A	C	15: 89,070,955 (GRCm39)		probably null	Het
Dstyk	A	G	1: 132,377,665 (GRCm39)	T424A	probably benign	Het
Gabrr3	A	G	16: 59,250,298 (GRCm39)		probably null	Het
Gnai3	A	G	3: 108,025,621 (GRCm39)	S153P	probably benign	Het
Igkv2-112	T	A	6: 68,197,599 (GRCm39)	S90R	probably damaging	Het
Lxn	T	C	3: 67,365,979 (GRCm39)	D173G	probably damaging	Het
Mcm3ap	T	A	10: 76,342,307 (GRCm39)	I1600N	probably damaging	Het
Myof	A	T	19: 37,971,406 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,762,931 (GRCm39)		probably benign	Het
Oaz3	A	G	3: 94,340,852 (GRCm39)	Y232H	unknown	Het
Or5aq1b	A	T	2: 86,902,046 (GRCm39)	M144K	possibly damaging	Het
Pkdcc	C	T	17: 83,527,577 (GRCm39)	R252*	probably null	Het
Plcl1	A	G	1: 55,741,090 (GRCm39)	N907S	probably benign	Het
Plscr1	T	A	9: 92,145,150 (GRCm39)	Y53*	probably null	Het
Pm20d2	T	C	4: 33,174,756 (GRCm39)	T377A	probably benign	Het
Ptchd3	T	A	11: 121,722,875 (GRCm39)	V321D	probably damaging	Het
Ranbp3l	T	C	15: 9,060,829 (GRCm39)	I366T	probably damaging	Het
Sardh	T	C	2: 27,087,660 (GRCm39)	E737G	probably damaging	Het
Scart2	T	C	7: 139,853,975 (GRCm39)	F326S	possibly damaging	Het
Scn1a	T	C	2: 66,103,626 (GRCm39)	E1878G	probably benign	Het
Slit3	T	C	11: 35,552,072 (GRCm39)	V872A	possibly damaging	Het
Sugp2	C	T	8: 70,713,195 (GRCm39)	Q1054*	probably null	Het
Syne3	T	C	12: 104,929,438 (GRCm39)	T261A	probably benign	Het
Tgif2	T	C	2: 156,695,232 (GRCm39)	S126P	probably benign	Het
Ticrr	T	C	7: 79,319,386 (GRCm39)	V457A	possibly damaging	Het
Tm7sf2	T	C	19: 6,113,635 (GRCm39)	I299V	probably benign	Het
Tnks1bp1	A	G	2: 84,892,902 (GRCm39)	E943G	probably benign	Het
Tpd52l2	T	A	2: 181,141,681 (GRCm39)	F21L	probably benign	Het
Tpm2	A	G	4: 43,519,263 (GRCm39)	L176P	probably benign	Het
Trim34a	C	A	7: 103,909,691 (GRCm39)	T293K	probably benign	Het
Ttc23	A	T	7: 67,312,135 (GRCm39)	D14V	probably damaging	Het
Twsg1	T	C	17: 66,236,706 (GRCm39)	E108G	probably benign	Het
Txndc15	C	T	13: 55,869,507 (GRCm39)	A220V	probably benign	Het
Vmn1r183	A	G	7: 23,754,266 (GRCm39)	Q23R	probably damaging	Het
Vmn1r31	A	G	6: 58,449,028 (GRCm39)	V279A	probably damaging	Het
Vmo1	A	C	11: 70,404,661 (GRCm39)	C113W	probably damaging	Het
Zfp984	A	G	4: 147,840,603 (GRCm39)	S83P	probably benign	Het
Zik1	A	C	7: 10,226,256 (GRCm39)	L37R	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
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

Predicted Primers

PCR Primer
(F):5'- AAATAGGCCGAAGTGCCCAG -3'
(R):5'- TCATGGATACTAGCCCTGCTGG -3'

Sequencing Primer
(F):5'- CCAGAAAGGGAATTAATGGCCCAC -3'
(R):5'- CCTTGATTCCTCCATTGTAAAC -3'

Posted On

2019-06-07