Incidental Mutation 'IGL03215:Amy1'
ID 413451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amy1
Ensembl Gene ENSMUSG00000074264
Gene Name amylase 1, salivary
Synonyms Amy-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL03215
Quality Score
Status
Chromosome 3
Chromosomal Location 113555710-113606699 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113556000 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 507 (A507V)
Ref Sequence ENSEMBL: ENSMUSP00000102150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067980] [ENSMUST00000106540]
AlphaFold P00687
Predicted Effect probably benign
Transcript: ENSMUST00000067980
AA Change: A507V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: A507V

DomainStartEndE-ValueType
Aamy 26 413 6.31e-97 SMART
Aamy_C 422 510 4.02e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106540
AA Change: A507V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: A507V

DomainStartEndE-ValueType
Aamy 26 413 6.31e-97 SMART
Aamy_C 422 510 4.02e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172885
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 C T 1: 180,745,105 A310V possibly damaging Het
Acmsd C A 1: 127,758,013 S197* probably null Het
Adgrg4 A T X: 56,977,596 N2761I probably damaging Het
Apob T C 12: 8,013,818 F316S possibly damaging Het
Arhgap10 T C 8: 77,277,152 T675A probably benign Het
Bbx A G 16: 50,202,572 I675T probably damaging Het
Cep126 C A 9: 8,100,530 E668* probably null Het
Cnga2 A G X: 72,009,166 D549G probably damaging Het
Dnah1 T A 14: 31,274,391 I2663F probably damaging Het
Fmo5 A G 3: 97,641,806 M257V probably benign Het
Galntl6 T C 8: 58,911,402 I25V probably benign Het
Il17ra A G 6: 120,472,114 N54S probably damaging Het
Mthfd1l A T 10: 4,041,826 T593S probably benign Het
Olfr1019 A T 2: 85,841,381 S137T probably damaging Het
Olfr1123 G A 2: 87,418,068 V7I probably benign Het
Olfr193 A T 16: 59,109,962 V216D possibly damaging Het
Olfr390 G T 11: 73,787,385 W149L probably damaging Het
Rnasel T A 1: 153,758,555 L578Q probably damaging Het
Serpinb1a A G 13: 32,850,369 L13S probably damaging Het
Slf1 G A 13: 77,049,977 P726L probably benign Het
Spta1 T C 1: 174,218,743 M1630T probably damaging Het
Stk16 T C 1: 75,212,592 probably benign Het
Tnxb T C 17: 34,692,525 F1724L possibly damaging Het
Vmn1r58 T C 7: 5,410,836 I132V probably benign Het
Zbtb41 T C 1: 139,446,950 I716T probably damaging Het
Other mutations in Amy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Amy1 APN 3 113556132 missense probably damaging 1.00
IGL00966:Amy1 APN 3 113556040 missense probably benign 0.00
IGL01153:Amy1 APN 3 113556075 missense possibly damaging 0.69
IGL02415:Amy1 APN 3 113563585 missense probably benign 0.27
IGL02555:Amy1 APN 3 113564892 missense probably benign 0.01
IGL02572:Amy1 APN 3 113565073 splice site probably benign
R0196:Amy1 UTSW 3 113569421 missense probably benign
R0230:Amy1 UTSW 3 113558430 missense probably benign 0.02
R0586:Amy1 UTSW 3 113562769 unclassified probably benign
R1789:Amy1 UTSW 3 113558165 missense possibly damaging 0.56
R1823:Amy1 UTSW 3 113562727 missense probably null
R1922:Amy1 UTSW 3 113564895 missense probably damaging 0.97
R2080:Amy1 UTSW 3 113558094 missense probably benign 0.01
R3147:Amy1 UTSW 3 113570048 start gained probably benign
R3437:Amy1 UTSW 3 113556009 missense probably damaging 1.00
R4961:Amy1 UTSW 3 113561849 missense probably damaging 1.00
R4977:Amy1 UTSW 3 113569377 splice site probably null
R5304:Amy1 UTSW 3 113558364 missense probably damaging 1.00
R5500:Amy1 UTSW 3 113562722 missense probably damaging 1.00
R5503:Amy1 UTSW 3 113556060 missense probably benign 0.26
R5706:Amy1 UTSW 3 113556120 missense probably damaging 0.99
R5866:Amy1 UTSW 3 113561920 missense possibly damaging 0.93
R5956:Amy1 UTSW 3 113563662 missense probably benign 0.04
R6110:Amy1 UTSW 3 113561900 missense probably damaging 1.00
R6259:Amy1 UTSW 3 113569410 missense possibly damaging 0.73
R6278:Amy1 UTSW 3 113561690 missense probably damaging 1.00
R6429:Amy1 UTSW 3 113569509 missense probably damaging 1.00
R6893:Amy1 UTSW 3 113563632 missense probably benign 0.00
R7136:Amy1 UTSW 3 113563599 missense probably damaging 1.00
R7463:Amy1 UTSW 3 113569884 nonsense probably null
R9193:Amy1 UTSW 3 113562629 missense probably benign 0.22
Z1177:Amy1 UTSW 3 113558353 missense probably damaging 1.00
Posted On 2016-08-02