Incidental Mutation 'R3904:Amd1'
ID 309106
Institutional Source Beutler Lab
Gene Symbol Amd1
Ensembl Gene ENSMUSG00000075232
Gene Name S-adenosylmethionine decarboxylase 1
Synonyms AdoMetDC, SAMDC, Amd-1
MMRRC Submission 040812-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3904 (G1)
Quality Score 170
Status Validated
Chromosome 10
Chromosomal Location 40163454-40178184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40166453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 210 (R210H)
Ref Sequence ENSEMBL: ENSMUSP00000097528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099945] [ENSMUST00000214698]
AlphaFold P0DMN7
Predicted Effect probably benign
Transcript: ENSMUST00000099945
AA Change: R210H

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000097528
Gene: ENSMUSG00000075232
AA Change: R210H

DomainStartEndE-ValueType
Pfam:SAM_decarbox 4 326 1.5e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213620
Predicted Effect probably benign
Transcript: ENSMUST00000214698
AA Change: R141H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216993
Meta Mutation Damage Score 0.0979 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (39/39)
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation and embryonic growth arrest. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,772,400 (GRCm39) I530L probably benign Het
5930422O12Rik T C 8: 33,919,467 (GRCm39) S96P probably damaging Het
Acot4 A G 12: 84,090,101 (GRCm39) probably null Het
Alms1 A G 6: 85,598,660 (GRCm39) D1631G probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Anapc1 A G 2: 128,484,439 (GRCm39) F1175S probably damaging Het
Ano4 A G 10: 88,860,867 (GRCm39) F337S probably damaging Het
Bub1 A C 2: 127,663,862 (GRCm39) I207S probably benign Het
Cfap53 T A 18: 74,440,445 (GRCm39) L405M probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Esp3 A T 17: 40,946,820 (GRCm39) T48S possibly damaging Het
Fmo1 G T 1: 162,661,337 (GRCm39) N315K possibly damaging Het
Fsip2l T C X: 47,930,421 (GRCm39) N649S possibly damaging Het
Impg1 A G 9: 80,252,867 (GRCm39) S438P possibly damaging Het
Jsrp1 T A 10: 80,648,246 (GRCm39) M1L probably benign Het
Klra14-ps T A 6: 130,129,512 (GRCm39) noncoding transcript Het
Mrm3 A G 11: 76,135,112 (GRCm39) M108V probably benign Het
Mtf2 T A 5: 108,228,866 (GRCm39) F61I probably damaging Het
Nat10 A T 2: 103,556,592 (GRCm39) probably benign Het
Or2y10 T C 11: 49,455,585 (GRCm39) I279T possibly damaging Het
Or7c70 T G 10: 78,683,132 (GRCm39) I206L probably benign Het
Pcgf5 T C 19: 36,417,495 (GRCm39) I140T probably damaging Het
Pfpl T C 19: 12,407,801 (GRCm39) L684P probably benign Het
Psmd10 T C X: 139,850,052 (GRCm39) *152W probably null Het
Ptpn23 A C 9: 110,218,313 (GRCm39) M600R probably benign Het
Pxmp4 C T 2: 154,429,969 (GRCm39) R140H probably damaging Het
Rnf112 T C 11: 61,341,211 (GRCm39) E410G probably damaging Het
Samd9l T A 6: 3,376,830 (GRCm39) K144* probably null Het
Shld2 A G 14: 33,981,666 (GRCm39) W491R probably damaging Het
Slc46a3 C T 5: 147,823,264 (GRCm39) E193K probably benign Het
Snap23 A C 2: 120,429,815 (GRCm39) D209A possibly damaging Het
Tg C T 15: 66,638,011 (GRCm39) Q656* probably null Het
Tshz2 A G 2: 169,726,307 (GRCm39) Y301C probably damaging Het
Ttn T A 2: 76,670,638 (GRCm39) probably benign Het
Unc80 C T 1: 66,678,455 (GRCm39) Q2011* probably null Het
Vwa3a A G 7: 120,358,099 (GRCm39) T57A probably benign Het
Zfp518a C T 19: 40,903,364 (GRCm39) Q1098* probably null Het
Other mutations in Amd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Amd1 APN 10 40,166,186 (GRCm39) nonsense probably null
IGL03303:Amd1 APN 10 40,166,121 (GRCm39) missense possibly damaging 0.67
R0378:Amd1 UTSW 10 40,165,380 (GRCm39) missense possibly damaging 0.88
R1413:Amd1 UTSW 10 40,166,404 (GRCm39) nonsense probably null
R1529:Amd1 UTSW 10 40,166,501 (GRCm39) missense probably benign 0.17
R1965:Amd1 UTSW 10 40,170,755 (GRCm39) missense probably benign 0.14
R3903:Amd1 UTSW 10 40,166,453 (GRCm39) missense probably benign 0.01
R5426:Amd1 UTSW 10 40,166,183 (GRCm39) missense probably damaging 0.99
R7068:Amd1 UTSW 10 40,166,508 (GRCm39) missense probably benign 0.21
R8070:Amd1 UTSW 10 40,170,226 (GRCm39) missense probably benign 0.12
R8082:Amd1 UTSW 10 40,166,508 (GRCm39) missense probably benign 0.21
R9132:Amd1 UTSW 10 40,169,158 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGGTCGTCATAGGAGGTCTG -3'
(R):5'- CCTGTCGTTCTGAGGTAAAACTTG -3'

Sequencing Primer
(F):5'- CGTCATAGGAGGTCTGACTTAG -3'
(R):5'- CGTTCTGAGGTAAAACTTGTTTTAC -3'
Posted On 2015-04-17