Incidental Mutation 'R0158:Ampd1'
ID 60912
Institutional Source Beutler Lab
Gene Symbol Ampd1
Ensembl Gene ENSMUSG00000070385
Gene Name adenosine monophosphate deaminase 1
Synonyms Ampd-1
MMRRC Submission 038438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R0158 (G1)
Quality Score 147
Status Validated
Chromosome 3
Chromosomal Location 102981330-103007036 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 102999046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 400 (Y400*)
Ref Sequence ENSEMBL: ENSMUSP00000143129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090715] [ENSMUST00000155034] [ENSMUST00000176440]
AlphaFold Q3V1D3
Predicted Effect probably null
Transcript: ENSMUST00000090715
AA Change: Y400*
SMART Domains Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: Y400*

DomainStartEndE-ValueType
low complexity region 234 246 N/A INTRINSIC
Pfam:A_deaminase 294 701 5.4e-136 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000155034
AA Change: Y400*
SMART Domains Protein: ENSMUSP00000143129
Gene: ENSMUSG00000070385
AA Change: Y400*

DomainStartEndE-ValueType
low complexity region 234 246 N/A INTRINSIC
Pfam:A_deaminase 294 676 5.2e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176440
Predicted Effect probably benign
Transcript: ENSMUST00000177250
SMART Domains Protein: ENSMUSP00000134772
Gene: ENSMUSG00000070385

DomainStartEndE-ValueType
Pfam:A_deaminase 22 203 1.4e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199407
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 93% (79/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,316 (GRCm39) R437C probably damaging Het
Abhd3 A G 18: 10,647,840 (GRCm39) Y315H possibly damaging Het
Adam19 C T 11: 46,033,861 (GRCm39) P891L probably damaging Het
Ap1g1 T C 8: 110,582,267 (GRCm39) S724P probably benign Het
Bst2 T A 8: 71,989,861 (GRCm39) T71S possibly damaging Het
C3 A G 17: 57,531,851 (GRCm39) probably null Het
Cacna2d1 C A 5: 16,566,815 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,213,709 (GRCm39) H43Y possibly damaging Het
Ccdc71 T G 9: 108,341,336 (GRCm39) V383G probably benign Het
Cd109 A T 9: 78,596,214 (GRCm39) Q849L possibly damaging Het
Cdkn2a A T 4: 89,195,004 (GRCm39) H115Q possibly damaging Het
Ces1e T C 8: 93,946,057 (GRCm39) E161G probably benign Het
Cggbp1 C T 16: 64,676,201 (GRCm39) S89L possibly damaging Het
Crocc A T 4: 140,769,553 (GRCm39) probably benign Het
Cspg4b T A 13: 113,505,687 (GRCm39) L2272* probably null Het
Eef1akmt3 G A 10: 126,869,142 (GRCm39) Q111* probably null Het
Exoc7 T C 11: 116,186,118 (GRCm39) N361S probably benign Het
Fat2 G T 11: 55,187,011 (GRCm39) S1278R probably benign Het
Fbxo42 A G 4: 140,927,640 (GRCm39) N640S probably benign Het
Fbxw25 A G 9: 109,483,720 (GRCm39) V164A possibly damaging Het
Fcgbpl1 A G 7: 27,854,917 (GRCm39) I1848V probably damaging Het
Foxs1 T C 2: 152,774,330 (GRCm39) E241G probably damaging Het
Fras1 A T 5: 96,924,493 (GRCm39) I3645F possibly damaging Het
Gm14496 T A 2: 181,639,206 (GRCm39) V432E probably benign Het
H3c2 T A 13: 23,936,693 (GRCm39) C111S probably damaging Het
Herc1 T A 9: 66,403,203 (GRCm39) L4374* probably null Het
Ift122 T C 6: 115,901,445 (GRCm39) probably benign Het
Itgav C A 2: 83,622,381 (GRCm39) N654K probably benign Het
Itih5 T C 2: 10,239,803 (GRCm39) probably benign Het
Jak2 C A 19: 29,289,157 (GRCm39) T1103K probably benign Het
Kcnc4 C A 3: 107,365,920 (GRCm39) C96F probably benign Het
Med13l C A 5: 118,880,514 (GRCm39) S1202Y unknown Het
Mefv T C 16: 3,533,320 (GRCm39) E317G possibly damaging Het
Ncoa2 T C 1: 13,222,608 (GRCm39) T1226A probably benign Het
Nktr C T 9: 121,579,757 (GRCm39) probably benign Het
Nudt5 G A 2: 5,867,114 (GRCm39) V61M probably damaging Het
Or51a39 C T 7: 102,363,162 (GRCm39) A153T probably benign Het
Pakap A G 4: 57,709,649 (GRCm39) D198G possibly damaging Het
Pcdhb2 A C 18: 37,430,283 (GRCm39) Y752S probably damaging Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pnp2 G A 14: 51,201,761 (GRCm39) R249H probably damaging Het
Rgs3 A T 4: 62,542,121 (GRCm39) I32F probably damaging Het
Rnf139 A G 15: 58,770,727 (GRCm39) T251A probably benign Het
Rnf41 A G 10: 128,274,104 (GRCm39) E252G probably damaging Het
Rxfp2 T A 5: 149,975,093 (GRCm39) F220Y probably benign Het
Sdcbp A G 4: 6,379,042 (GRCm39) D43G possibly damaging Het
Serpina3f A G 12: 104,183,267 (GRCm39) D43G probably damaging Het
Sftpc T C 14: 70,758,887 (GRCm39) K154R probably null Het
Simc1 A G 13: 54,672,530 (GRCm39) T293A probably benign Het
Skint6 A T 4: 113,042,011 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,225,208 (GRCm39) probably benign Het
Spata31e2 T G 1: 26,723,032 (GRCm39) H716P probably damaging Het
Ston2 A T 12: 91,707,376 (GRCm39) I78N probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tent4b G A 8: 88,977,371 (GRCm39) G391D probably damaging Het
Tiam1 C T 16: 89,589,889 (GRCm39) probably benign Het
Tnfsf15 T C 4: 63,648,229 (GRCm39) H137R possibly damaging Het
Tpte G A 8: 22,817,755 (GRCm39) R247H possibly damaging Het
Trim2 T C 3: 84,117,476 (GRCm39) probably benign Het
Ulk1 A T 5: 110,936,810 (GRCm39) probably benign Het
Utp4 T G 8: 107,640,018 (GRCm39) H442Q probably null Het
Vmn1r193 T A 13: 22,403,798 (GRCm39) I65F probably damaging Het
Vps54 A T 11: 21,256,962 (GRCm39) Q690L probably damaging Het
Ybx2 T C 11: 69,831,145 (GRCm39) probably benign Het
Zbtb38 C T 9: 96,568,993 (GRCm39) G697D possibly damaging Het
Zfp202 C T 9: 40,120,212 (GRCm39) Q218* probably null Het
Zfp820 G A 17: 22,038,800 (GRCm39) T176I probably benign Het
Other mutations in Ampd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Ampd1 APN 3 103,007,010 (GRCm39) missense possibly damaging 0.64
IGL00909:Ampd1 APN 3 102,995,744 (GRCm39) missense probably benign 0.10
IGL01543:Ampd1 APN 3 103,003,029 (GRCm39) missense probably benign 0.00
IGL01743:Ampd1 APN 3 103,002,201 (GRCm39) splice site probably benign
IGL02390:Ampd1 APN 3 102,986,357 (GRCm39) missense probably benign 0.28
IGL02637:Ampd1 APN 3 103,002,199 (GRCm39) splice site probably benign
IGL02735:Ampd1 APN 3 102,992,693 (GRCm39) missense probably damaging 1.00
IGL03151:Ampd1 APN 3 102,999,786 (GRCm39) splice site probably null
twinkle_toes UTSW 3 103,002,962 (GRCm39) nonsense probably null
R0441:Ampd1 UTSW 3 102,995,794 (GRCm39) missense probably benign 0.05
R0646:Ampd1 UTSW 3 103,006,913 (GRCm39) missense probably damaging 1.00
R1474:Ampd1 UTSW 3 103,006,154 (GRCm39) missense probably damaging 1.00
R1499:Ampd1 UTSW 3 102,998,980 (GRCm39) missense probably damaging 1.00
R1789:Ampd1 UTSW 3 103,006,442 (GRCm39) missense possibly damaging 0.46
R2131:Ampd1 UTSW 3 103,002,194 (GRCm39) critical splice donor site probably null
R3706:Ampd1 UTSW 3 102,995,627 (GRCm39) splice site probably benign
R4007:Ampd1 UTSW 3 102,999,776 (GRCm39) missense probably damaging 0.99
R4169:Ampd1 UTSW 3 103,002,157 (GRCm39) missense probably damaging 1.00
R4525:Ampd1 UTSW 3 103,002,049 (GRCm39) missense probably damaging 1.00
R4828:Ampd1 UTSW 3 102,988,413 (GRCm39) missense probably damaging 1.00
R5015:Ampd1 UTSW 3 103,006,981 (GRCm39) missense possibly damaging 0.89
R5514:Ampd1 UTSW 3 102,986,488 (GRCm39) missense possibly damaging 0.50
R5839:Ampd1 UTSW 3 102,992,744 (GRCm39) missense possibly damaging 0.47
R5872:Ampd1 UTSW 3 102,986,446 (GRCm39) missense probably benign 0.00
R5890:Ampd1 UTSW 3 102,997,391 (GRCm39) missense probably damaging 1.00
R5986:Ampd1 UTSW 3 102,992,713 (GRCm39) missense probably damaging 1.00
R6272:Ampd1 UTSW 3 102,992,699 (GRCm39) missense possibly damaging 0.50
R6473:Ampd1 UTSW 3 103,002,962 (GRCm39) nonsense probably null
R6504:Ampd1 UTSW 3 103,006,911 (GRCm39) missense possibly damaging 0.90
R7051:Ampd1 UTSW 3 102,997,389 (GRCm39) missense probably damaging 1.00
R7323:Ampd1 UTSW 3 102,992,696 (GRCm39) missense probably benign
R7424:Ampd1 UTSW 3 102,995,758 (GRCm39) missense probably benign 0.05
R7436:Ampd1 UTSW 3 102,981,435 (GRCm39) critical splice donor site probably null
R7546:Ampd1 UTSW 3 103,003,028 (GRCm39) missense probably benign
R8344:Ampd1 UTSW 3 103,003,002 (GRCm39) missense possibly damaging 0.90
R8366:Ampd1 UTSW 3 102,995,810 (GRCm39) missense probably damaging 0.99
R8423:Ampd1 UTSW 3 102,988,305 (GRCm39) missense probably benign
R8543:Ampd1 UTSW 3 102,986,486 (GRCm39) missense possibly damaging 0.50
R8730:Ampd1 UTSW 3 102,992,676 (GRCm39) nonsense probably null
R8904:Ampd1 UTSW 3 102,988,374 (GRCm39) missense probably benign 0.12
R9017:Ampd1 UTSW 3 102,995,786 (GRCm39) missense probably benign 0.01
R9121:Ampd1 UTSW 3 103,005,998 (GRCm39) nonsense probably null
R9150:Ampd1 UTSW 3 102,988,359 (GRCm39) missense possibly damaging 0.49
R9242:Ampd1 UTSW 3 102,998,936 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGTGATGACTGAAAGCACACCTG -3'
(R):5'- GGATGCTTCTAGCTCTGCCCAAAC -3'

Sequencing Primer
(F):5'- GGACTTCATTCTTAGAGCCCAG -3'
(R):5'- GGCCAGGTCCTTATCATCTAAAC -3'
Posted On 2013-07-24