Incidental Mutation 'IGL02390:Ampd1'
ID294234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ampd1
Ensembl Gene ENSMUSG00000070385
Gene Nameadenosine monophosphate deaminase 1
SynonymsAmpd-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL02390
Quality Score
Status
Chromosome3
Chromosomal Location103074014-103099720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 103079041 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 12 (A12V)
Ref Sequence ENSEMBL: ENSMUSP00000135737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090715] [ENSMUST00000155034] [ENSMUST00000176440]
Predicted Effect probably benign
Transcript: ENSMUST00000090715
AA Change: A16V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: A16V

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
AA Change: A16V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143129
Gene: ENSMUSG00000070385
AA Change: A16V

DomainStartEndE-ValueType
low complexity region 234 246 N/A INTRINSIC
Pfam:A_deaminase 294 676 5.2e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158450
Predicted Effect probably benign
Transcript: ENSMUST00000176440
AA Change: A12V

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik T C 7: 34,248,218 D455G probably damaging Het
Abca5 T C 11: 110,296,551 K894R probably benign Het
Ano4 T A 10: 89,024,981 D345V possibly damaging Het
Arl6 A G 16: 59,621,217 probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atrn C T 2: 131,020,977 P1326S possibly damaging Het
Btbd9 A G 17: 30,524,814 V238A probably benign Het
Cdh16 T C 8: 104,621,974 T141A probably damaging Het
Cetn4 T C 3: 37,309,156 D102G probably damaging Het
Col5a3 T A 9: 20,776,996 N1256I unknown Het
Cyfip2 A G 11: 46,221,398 F993L possibly damaging Het
Dcaf6 T A 1: 165,422,921 I125F possibly damaging Het
Dclk2 A C 3: 86,824,683 S336A probably damaging Het
Dnah8 G A 17: 30,830,845 V4327I probably benign Het
Ebna1bp2 T C 4: 118,621,497 V59A possibly damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
F2 A T 2: 91,632,987 V184D possibly damaging Het
Fbxo38 C T 18: 62,533,589 R171H probably damaging Het
Fhod3 A C 18: 25,066,275 S668R probably benign Het
Fkbp10 T A 11: 100,416,017 F78L probably damaging Het
Gm13083 T A 4: 143,615,325 M108K probably benign Het
Hyi C T 4: 118,362,613 R254C probably benign Het
Igfl3 A T 7: 18,181,734 probably benign Het
Lgals9 T A 11: 78,963,535 I308F probably damaging Het
Lrrc8a C A 2: 30,256,701 P509Q probably damaging Het
Mapkap1 T A 2: 34,432,089 N6K probably damaging Het
Mdh1b T A 1: 63,721,557 H115L probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mrpl15 T C 1: 4,785,614 S22G probably benign Het
Nf1 T C 11: 79,565,935 Y616H possibly damaging Het
Nf1 T A 11: 79,411,676 probably benign Het
Olfr107 A T 17: 37,406,095 L182F probably benign Het
Olfr1312 A T 2: 112,042,711 V107E possibly damaging Het
Olfr270 T A 4: 52,971,263 I214N probably damaging Het
Olig1 C A 16: 91,270,153 Q93K probably damaging Het
Otoa C A 7: 121,131,367 L597M possibly damaging Het
Parp16 C T 9: 65,233,769 P207L possibly damaging Het
Pbrm1 T A 14: 31,032,510 D162E probably benign Het
Prdm10 A G 9: 31,353,389 I658V possibly damaging Het
Psg21 A T 7: 18,652,631 H143Q probably benign Het
Rfx4 C T 10: 84,840,150 R28W probably damaging Het
Sart1 T G 19: 5,380,461 M753L possibly damaging Het
Smcr8 T A 11: 60,779,722 D565E probably benign Het
Smyd4 T A 11: 75,387,506 probably null Het
Sned1 T C 1: 93,261,664 V274A probably benign Het
Tbc1d13 T C 2: 30,137,387 probably benign Het
Tox A T 4: 6,697,534 I423N possibly damaging Het
Tsc2 A T 17: 24,600,453 V1232D probably damaging Het
Uckl1 C T 2: 181,574,419 V178I possibly damaging Het
Usp13 T A 3: 32,931,716 Y175* probably null Het
Vwde A G 6: 13,190,685 V469A probably damaging Het
Other mutations in Ampd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Ampd1 APN 3 103099694 missense possibly damaging 0.64
IGL00909:Ampd1 APN 3 103088428 missense probably benign 0.10
IGL01543:Ampd1 APN 3 103095713 missense probably benign 0.00
IGL01743:Ampd1 APN 3 103094885 splice site probably benign
IGL02637:Ampd1 APN 3 103094883 splice site probably benign
IGL02735:Ampd1 APN 3 103085377 missense probably damaging 1.00
IGL03151:Ampd1 APN 3 103092470 splice site probably null
twinkle_toes UTSW 3 103095646 nonsense probably null
R0158:Ampd1 UTSW 3 103091730 nonsense probably null
R0441:Ampd1 UTSW 3 103088478 missense probably benign 0.05
R0646:Ampd1 UTSW 3 103099597 missense probably damaging 1.00
R1474:Ampd1 UTSW 3 103098838 missense probably damaging 1.00
R1499:Ampd1 UTSW 3 103091664 missense probably damaging 1.00
R1789:Ampd1 UTSW 3 103099126 missense possibly damaging 0.46
R2131:Ampd1 UTSW 3 103094878 critical splice donor site probably null
R3706:Ampd1 UTSW 3 103088311 splice site probably benign
R4007:Ampd1 UTSW 3 103092460 missense probably damaging 0.99
R4169:Ampd1 UTSW 3 103094841 missense probably damaging 1.00
R4525:Ampd1 UTSW 3 103094733 missense probably damaging 1.00
R4828:Ampd1 UTSW 3 103081097 missense probably damaging 1.00
R5015:Ampd1 UTSW 3 103099665 missense possibly damaging 0.89
R5514:Ampd1 UTSW 3 103079172 missense possibly damaging 0.50
R5839:Ampd1 UTSW 3 103085428 missense possibly damaging 0.47
R5872:Ampd1 UTSW 3 103079130 missense probably benign 0.00
R5890:Ampd1 UTSW 3 103090075 missense probably damaging 1.00
R5986:Ampd1 UTSW 3 103085397 missense probably damaging 1.00
R6272:Ampd1 UTSW 3 103085383 missense possibly damaging 0.50
R6473:Ampd1 UTSW 3 103095646 nonsense probably null
R6504:Ampd1 UTSW 3 103099595 missense possibly damaging 0.90
R7051:Ampd1 UTSW 3 103090073 missense probably damaging 1.00
R7323:Ampd1 UTSW 3 103085380 missense probably benign
R7424:Ampd1 UTSW 3 103088442 missense probably benign 0.05
R7436:Ampd1 UTSW 3 103074119 critical splice donor site probably null
R7546:Ampd1 UTSW 3 103095712 missense probably benign
Posted On2015-04-16