Incidental Mutation 'R5015:Ampd1'
ID 385482
Institutional Source Beutler Lab
Gene Symbol Ampd1
Ensembl Gene ENSMUSG00000070385
Gene Name adenosine monophosphate deaminase 1
Synonyms Ampd-1
MMRRC Submission 042606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 102981330-103007036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 103006981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 735 (N735K)
Ref Sequence ENSEMBL: ENSMUSP00000088217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090715] [ENSMUST00000155034] [ENSMUST00000173206]
AlphaFold Q3V1D3
Predicted Effect possibly damaging
Transcript: ENSMUST00000090715
AA Change: N735K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: N735K

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 noncoding transcript
Transcript: ENSMUST00000166143
Predicted Effect probably benign
Transcript: ENSMUST00000173206
SMART Domains Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379

DomainStartEndE-ValueType
uDENN 424 514 1.01e-25 SMART
DENN 521 705 3.36e-77 SMART
dDENN 749 816 1.15e-20 SMART
Predicted Effect unknown
Transcript: ENSMUST00000177250
AA Change: N236K
SMART Domains Protein: ENSMUSP00000134772
Gene: ENSMUSG00000070385
AA Change: N236K

DomainStartEndE-ValueType
Pfam:A_deaminase 22 203 1.4e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199407
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T 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
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
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'- TTACGGTGGAGGAGCAATCG -3'
(R):5'- TGGAAGGCTTAATACAGTACTTGGC -3'

Sequencing Primer
(F):5'- GCTGCCTATCCCGGTATAAAAAGAG -3'
(R):5'- CAATTCTCAGCAATGGTGTGAGCC -3'
Posted On 2016-05-10