Incidental Mutation 'R3706:Ampd1'
ID 271758
Institutional Source Beutler Lab
Gene Symbol Ampd1
Ensembl Gene ENSMUSG00000070385
Gene Name adenosine monophosphate deaminase 1
Synonyms Ampd-1
MMRRC Submission 040699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R3706 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 102981330-103007036 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 102995627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090715] [ENSMUST00000155034] [ENSMUST00000176440]
AlphaFold Q3V1D3
Predicted Effect probably benign
Transcript: ENSMUST00000090715
SMART Domains Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385

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

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 G A 12: 112,740,085 (GRCm39) P523L possibly damaging Het
Anxa10 T A 8: 62,517,321 (GRCm39) K167M probably damaging Het
Atp8b2 A T 3: 89,852,459 (GRCm39) F866I probably damaging Het
Atxn2 T C 5: 121,923,931 (GRCm39) probably null Het
Card11 G A 5: 140,872,890 (GRCm39) R608C probably damaging Het
Cd4 T C 6: 124,856,351 (GRCm39) K47E probably benign Het
Cenpl G A 1: 160,905,985 (GRCm39) V120M probably damaging Het
Cfap69 G T 5: 5,663,843 (GRCm39) Y461* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ddx24 A T 12: 103,383,675 (GRCm39) V592E probably damaging Het
Dmc1 G C 15: 79,446,782 (GRCm39) P264A probably damaging Het
Donson A G 16: 91,483,049 (GRCm39) probably benign Het
Elovl5 C A 9: 77,887,119 (GRCm39) A170E probably null Het
Emilin1 A G 5: 31,075,166 (GRCm39) E469G possibly damaging Het
Fam178b A G 1: 36,647,529 (GRCm39) Y235H probably damaging Het
Fgfr2 T C 7: 129,800,161 (GRCm39) T358A probably benign Het
Fpgs A T 2: 32,578,008 (GRCm39) I138N probably damaging Het
Glb1l2 A G 9: 26,682,316 (GRCm39) probably benign Het
Hspa4l A T 3: 40,736,125 (GRCm39) N582I possibly damaging Het
Immt T C 6: 71,839,346 (GRCm39) M226T probably benign Het
Kif21b A G 1: 136,087,148 (GRCm39) N875S probably benign Het
Lama2 T C 10: 27,014,992 (GRCm39) D1572G probably damaging Het
Lelp1 A C 3: 92,042,714 (GRCm39) C112G unknown Het
Mctp2 A G 7: 71,863,859 (GRCm39) probably benign Het
Mettl2 T A 11: 105,030,552 (GRCm39) I376N probably benign Het
Mycbp2 A T 14: 103,393,850 (GRCm39) S2904T probably benign Het
Nwd1 A G 8: 73,393,744 (GRCm39) T377A possibly damaging Het
Or10q1 T A 19: 13,726,476 (GRCm39) L2Q probably benign Het
Or5b12b C T 19: 12,861,260 (GRCm39) T5I probably damaging Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Phip T C 9: 82,782,796 (GRCm39) E883G probably benign Het
Phox2b T C 5: 67,253,872 (GRCm39) probably benign Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Rab11b G C 17: 33,966,740 (GRCm39) H162D probably benign Het
Reln T C 5: 22,200,587 (GRCm39) probably benign Het
Sgo2b T C 8: 64,381,179 (GRCm39) E551G probably damaging Het
Sucla2 A G 14: 73,828,492 (GRCm39) K336R probably damaging Het
Zfx A G X: 93,142,413 (GRCm39) V36A possibly damaging Het
Zim1 T C 7: 6,680,290 (GRCm39) I458V probably damaging 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
R0158:Ampd1 UTSW 3 102,999,046 (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
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'- GTCACTTTGGGAGAATAAGCTTTG -3'
(R):5'- CATCCAGATTTGGGTAAGGGTAGG -3'

Sequencing Primer
(F):5'- TTCTAGGACAGCCAGGGTTAC -3'
(R):5'- GGCTTGGGCTCATCTCTG -3'
Posted On 2015-03-25