Incidental Mutation 'IGL00486:As3mt'
| ID |
3165 |
| 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)
|
| Stock # |
IGL00486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46695897-46729538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46708864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 286
(E286G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003655]
|
| AlphaFold |
Q91WU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003655
AA Change: E286G
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000003655
Gene: ENSMUSG00000003559
AA Change: E286G
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
| Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,445 (GRCm39) |
E217G |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
| Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,530,081 (GRCm39) |
L693F |
probably damaging |
Het |
| Mnd1 |
T |
C |
3: 84,045,505 (GRCm39) |
E33G |
possibly damaging |
Het |
| Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
| Poli |
C |
T |
18: 70,658,561 (GRCm39) |
G81R |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,314,170 (GRCm39) |
S401F |
probably damaging |
Het |
| Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,133 (GRCm39) |
Q350K |
probably benign |
Het |
| Wnk3 |
A |
G |
X: 150,016,025 (GRCm39) |
R494G |
probably damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in As3mt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation