Incidental Mutation 'R0378:Amd1'
ID36477
Institutional Source Beutler Lab
Gene Symbol Amd1
Ensembl Gene ENSMUSG00000075232
Gene NameS-adenosylmethionine decarboxylase 1
SynonymsAdoMetDC, SAMDC, Amd-1
MMRRC Submission 038584-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0378 (G1)
Quality Score101
Status Not validated
Chromosome10
Chromosomal Location40287458-40302186 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40289384 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 317 (D317G)
Ref Sequence ENSEMBL: ENSMUSP00000097528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099945] [ENSMUST00000214698]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099945
AA Change: D317G

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097528
Gene: ENSMUSG00000075232
AA Change: D317G

DomainStartEndE-ValueType
Pfam:SAM_decarbox 4 326 1.5e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213620
Predicted Effect probably benign
Transcript: ENSMUST00000214698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216993
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 113,743,117 R651L probably damaging Het
Artn A G 4: 117,927,618 probably benign Het
Asna1 A T 8: 85,025,264 M1K probably null Het
Bub1b T A 2: 118,641,123 V988E probably benign Het
Cyp2c65 G T 19: 39,073,218 C216F probably benign Het
Cyp3a11 T C 5: 145,868,607 E200G probably benign Het
Cyp3a25 T A 5: 145,986,842 K330N probably damaging Het
Duox2 C A 2: 122,284,583 V1138L probably benign Het
Erc2 A G 14: 28,011,694 D567G probably damaging Het
Eri2 A G 7: 119,793,916 probably null Het
Foxa3 A G 7: 19,023,369 Y17H probably damaging Het
Fto T C 8: 91,474,312 S324P probably damaging Het
Gls2 T G 10: 128,207,311 L457R probably benign Het
Gstcd A T 3: 132,986,408 L582H probably damaging Het
Gtf3c1 G A 7: 125,647,614 R1508* probably null Het
Kif21a T C 15: 90,969,774 probably null Het
Klra5 A T 6: 129,906,614 D93E possibly damaging Het
Lgr5 T C 10: 115,454,499 D456G probably damaging Het
Mau2 A G 8: 70,030,655 S186P probably damaging Het
Msr1 T C 8: 39,589,382 D384G possibly damaging Het
Mum1 C A 10: 80,238,879 probably null Het
Ncf4 T C 15: 78,253,303 V93A probably damaging Het
Oas1f T G 5: 120,856,426 C337G probably damaging Het
Olfr119 A G 17: 37,701,041 M124V probably damaging Het
Olfr482 A T 7: 108,095,222 F116Y probably benign Het
Olfr820 T A 10: 130,018,003 L214H probably damaging Het
Rasl10b T C 11: 83,418,693 S159P probably damaging Het
Sephs1 A G 2: 4,899,560 T250A probably benign Het
Smg8 C A 11: 87,080,423 D841Y probably damaging Het
Sox7 T C 14: 63,943,949 V65A probably damaging Het
Sp140 C T 1: 85,620,051 probably benign Het
Srsf10 A G 4: 135,863,190 Y142C possibly damaging Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tcerg1l A G 7: 138,276,655 V326A probably benign Het
Tcl1b5 T A 12: 105,179,067 W97R probably damaging Het
Tmem108 T C 9: 103,499,657 R198G possibly damaging Het
Ube2ql1 T A 13: 69,738,898 Q148L possibly damaging Het
Vmn1r5 A T 6: 56,985,585 I82L probably benign Het
Wdr6 A T 9: 108,575,864 S273R probably damaging Het
Ylpm1 C T 12: 84,997,076 probably benign Het
Zfp90 G A 8: 106,425,506 R617Q possibly damaging Het
Other mutations in Amd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Amd1 APN 10 40290190 nonsense probably null
IGL03303:Amd1 APN 10 40290125 missense possibly damaging 0.67
R1413:Amd1 UTSW 10 40290408 nonsense probably null
R1529:Amd1 UTSW 10 40290505 missense probably benign 0.17
R1965:Amd1 UTSW 10 40294759 missense probably benign 0.14
R3903:Amd1 UTSW 10 40290457 missense probably benign 0.01
R3904:Amd1 UTSW 10 40290457 missense probably benign 0.01
R5426:Amd1 UTSW 10 40290187 missense probably damaging 0.99
R7068:Amd1 UTSW 10 40290512 missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- CAGTTCCACAGCAAGAGTGGCATAG -3'
(R):5'- ACTTGGCTTTCTCTCAGCAGCG -3'

Sequencing Primer
(F):5'- AGGGCTTTCTGCAACTACGAG -3'
(R):5'- TCACAGGGGCATGGACAC -3'
Posted On2013-05-09