Incidental Mutation 'IGL02190:As3mt'
ID 283832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol As3mt
Ensembl Gene ENSMUSG00000003559
Gene Name arsenic (+3 oxidation state) methyltransferase
Synonyms 2310045H08Rik, Cyt19
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02190
Quality Score
Status
Chromosome 19
Chromosomal Location 46707443-46741095 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46719945 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 224 (I224F)
Ref Sequence ENSEMBL: ENSMUSP00000003655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003655]
AlphaFold Q91WU5
Predicted Effect probably benign
Transcript: ENSMUST00000003655
AA Change: I224F

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000003655
Gene: ENSMUSG00000003559
AA Change: I224F

DomainStartEndE-ValueType
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,140,724 probably benign Het
AI314180 A T 4: 58,800,190 S1838R probably benign Het
Ano1 T C 7: 144,618,883 E521G probably benign Het
Atp5j2 C A 5: 145,183,832 probably benign Het
Cacna1h A G 17: 25,433,026 V48A probably benign Het
Ctu2 T C 8: 122,481,658 probably benign Het
Efcab5 T C 11: 77,121,314 R841G probably benign Het
Erbb3 A T 10: 128,571,010 probably null Het
Fkbp15 G T 4: 62,304,822 P947T possibly damaging Het
Gabpb1 A G 2: 126,653,549 probably benign Het
Gcn1l1 G T 5: 115,614,124 V2100L probably damaging Het
Gemin5 A C 11: 58,134,842 V977G probably damaging Het
Gpr107 T A 2: 31,178,320 Y265N probably damaging Het
Gpx8 T C 13: 113,043,309 probably benign Het
H2-Eb2 A T 17: 34,334,374 N178I probably damaging Het
Ift172 C T 5: 31,254,458 V1587I possibly damaging Het
Lrrc45 A G 11: 120,718,508 T398A probably damaging Het
Mmrn1 G T 6: 60,987,193 V1059L probably benign Het
Morn5 A G 2: 36,079,515 D147G probably benign Het
Mphosph9 T C 5: 124,265,425 R847G possibly damaging Het
Nutm1 C T 2: 112,249,406 W721* probably null Het
Olfr1136 A G 2: 87,693,063 M273T probably benign Het
Olfr347 T C 2: 36,734,579 L86P probably benign Het
Olfr531 T C 7: 140,400,120 probably benign Het
Rgl3 A G 9: 21,981,708 F227L probably benign Het
Ropn1l G T 15: 31,443,341 L182I probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scgb1a1 A T 19: 9,087,867 L12Q probably damaging Het
Scp2 A G 4: 108,087,128 S237P probably benign Het
Skint5 T C 4: 113,940,765 Q207R possibly damaging Het
Slc16a5 A G 11: 115,462,609 M1V probably null Het
Tox2 G A 2: 163,323,006 R522H possibly damaging Het
Trip12 A T 1: 84,766,070 N505K probably damaging Het
Tuba1c G A 15: 99,037,989 D444N unknown Het
Vmn1r174 A G 7: 23,754,827 E306G unknown Het
Vmn2r111 A T 17: 22,570,773 F417L probably benign Het
Vmn2r15 A T 5: 109,293,374 M206K probably damaging Het
Vmn2r95 G T 17: 18,451,776 A592S probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in As3mt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:As3mt APN 19 46720425 missense probably benign 0.06
IGL00903:As3mt APN 19 46712234 missense probably benign 0.04
IGL03088:As3mt APN 19 46707794 missense probably damaging 1.00
PIT4791001:As3mt UTSW 19 46720349 missense probably damaging 1.00
R1797:As3mt UTSW 19 46724934 missense possibly damaging 0.92
R2157:As3mt UTSW 19 46707792 missense probably benign 0.36
R3113:As3mt UTSW 19 46715278 splice site probably benign
R3816:As3mt UTSW 19 46707777 missense probably benign 0.32
R4819:As3mt UTSW 19 46707529 unclassified probably benign
R5053:As3mt UTSW 19 46709054 missense probably damaging 1.00
R5333:As3mt UTSW 19 46708196 missense probably null 0.97
R6003:As3mt UTSW 19 46708128 missense possibly damaging 0.85
R6269:As3mt UTSW 19 46719952 missense probably damaging 1.00
R6281:As3mt UTSW 19 46724923 missense possibly damaging 0.56
R6317:As3mt UTSW 19 46724971 missense probably benign 0.01
R6803:As3mt UTSW 19 46709581 missense probably benign 0.01
R7346:As3mt UTSW 19 46720452 missense probably damaging 1.00
R8061:As3mt UTSW 19 46740543 missense probably damaging 1.00
R8331:As3mt UTSW 19 46709006 missense probably damaging 1.00
Posted On 2015-04-16