Incidental Mutation 'R5333:As3mt'
ID 423381
Institutional Source Beutler Lab
Gene Symbol As3mt
Ensembl Gene ENSMUSG00000003559
Gene Name arsenite methyltransferase
Synonyms Cyt19, 2310045H08Rik
MMRRC Submission 042915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5333 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 46695897-46729538 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46696635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 58 (R58G)
Ref Sequence ENSEMBL: ENSMUSP00000003655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003655] [ENSMUST00000074912]
AlphaFold Q91WU5
Predicted Effect probably null
Transcript: ENSMUST00000003655
AA Change: R58G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003655
Gene: ENSMUSG00000003559
AA Change: R58G

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
Predicted Effect probably benign
Transcript: ENSMUST00000074912
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (56/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abca14 T A 7: 119,888,769 (GRCm39) Y1238* probably null Het
Abcb5 A T 12: 118,831,677 (GRCm39) V1225D probably damaging Het
Arhgef15 A G 11: 68,838,022 (GRCm39) probably benign Het
Asap1 T G 15: 63,999,263 (GRCm39) N525T possibly damaging Het
Bhmt2 A G 13: 93,807,938 (GRCm39) V50A probably benign Het
Bpnt2 A C 4: 4,767,963 (GRCm39) V271G possibly damaging Het
Ccdc180 A T 4: 45,890,935 (GRCm39) I36F possibly damaging Het
Cd209c A G 8: 3,994,976 (GRCm39) S63P probably damaging Het
Cdc37 T C 9: 21,054,457 (GRCm39) E56G possibly damaging Het
Cdkal1 T C 13: 29,510,135 (GRCm39) Y541C probably benign Het
Cenph G T 13: 100,898,280 (GRCm39) H208N probably benign Het
Cfap65 A T 1: 74,942,334 (GRCm39) L1740Q probably benign Het
Cfap74 A G 4: 155,521,197 (GRCm39) D623G probably damaging Het
Ckap4 C A 10: 84,363,474 (GRCm39) V530L probably damaging Het
Cldn13 A T 5: 134,943,869 (GRCm39) N105K probably benign Het
Ddn T C 15: 98,703,237 (GRCm39) D685G possibly damaging Het
Fdxr T C 11: 115,163,084 (GRCm39) I70V probably benign Het
Fn1 A T 1: 71,663,339 (GRCm39) Y1050N probably damaging Het
Iqcf3 A G 9: 106,430,860 (GRCm39) I96T possibly damaging Het
Itgax A G 7: 127,741,455 (GRCm39) Y822C probably damaging Het
Katnb1 A T 8: 95,822,234 (GRCm39) I286L possibly damaging Het
Lrp2 A C 2: 69,355,572 (GRCm39) I424R probably benign Het
Lrpprc C A 17: 85,097,821 (GRCm39) A41S probably benign Het
Mast3 A G 8: 71,236,145 (GRCm39) L761P probably benign Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mpp4 C A 1: 59,196,600 (GRCm39) R44L probably benign Het
Nalf1 T A 8: 9,820,762 (GRCm39) Q86L possibly damaging Het
Nkain3 T A 4: 20,484,889 (GRCm39) M63L probably benign Het
Nup88 A C 11: 70,835,842 (GRCm39) probably benign Het
Obscn A T 11: 58,953,518 (GRCm39) C3837S probably damaging Het
Ogdh T G 11: 6,302,126 (GRCm39) L850V probably damaging Het
Or4f17-ps1 A G 2: 111,358,048 (GRCm39) I148V probably benign Het
Or5w11 A G 2: 87,459,458 (GRCm39) Y217C probably damaging Het
Panx2 T C 15: 88,952,742 (GRCm39) I411T possibly damaging Het
Papss1 T A 3: 131,348,805 (GRCm39) M585K probably damaging Het
Pcbp2 T G 15: 102,394,456 (GRCm39) L180R possibly damaging Het
Pcdha7 A T 18: 37,107,619 (GRCm39) T215S probably benign Het
Pcdhga4 C T 18: 37,818,477 (GRCm39) R9C probably benign Het
Plin4 A G 17: 56,411,970 (GRCm39) V687A probably benign Het
Potefam1 A T 2: 111,024,682 (GRCm39) Y61N possibly damaging Het
Psma6 A G 12: 55,454,213 (GRCm39) probably benign Het
Rcn1 A T 2: 105,219,471 (GRCm39) S241T probably benign Het
Scgb2b18 A T 7: 32,872,700 (GRCm39) L35H probably damaging Het
Slc11a1 A C 1: 74,423,304 (GRCm39) D385A probably damaging Het
Stk31 T A 6: 49,446,086 (GRCm39) C930S probably benign Het
Syt10 T A 15: 89,725,932 (GRCm39) Q14L probably benign Het
Tnxb T G 17: 34,909,205 (GRCm39) W1578G probably damaging Het
Triml1 C T 8: 43,583,327 (GRCm39) A425T possibly damaging Het
Vil1 G A 1: 74,471,549 (GRCm39) V777I probably benign Het
Vmn1r175 T C 7: 23,508,004 (GRCm39) I208V possibly damaging Het
Other mutations in As3mt
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCTCTGCAAACAGTTAACGTC -3'
(R):5'- TGAATGTCTCCTGCAATGGGC -3'

Sequencing Primer
(F):5'- GCAAACAGTTAACGTCAATCCTCTTC -3'
(R):5'- CAGGACATCGATGAGGGGTCC -3'
Posted On 2016-08-04