Incidental Mutation 'IGL00482:Amy1'
ID 6777
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 # IGL00482
Quality Score
Status
Chromosome 3
Chromosomal Location 113555710-113606699 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 113556132 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 463 (T463K)
Ref Sequence ENSEMBL: ENSMUSP00000102150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067980] [ENSMUST00000106540]
AlphaFold P00687
Predicted Effect probably damaging
Transcript: ENSMUST00000067980
AA Change: T463K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: T463K

DomainStartEndE-ValueType
Aamy 26 413 6.31e-97 SMART
Aamy_C 422 510 4.02e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106540
AA Change: T463K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: T463K

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,200,289 T722A probably damaging Het
Akr1b10 G T 6: 34,388,902 probably benign Het
Arid4b T C 13: 14,191,134 probably benign Het
Arl2 A G 19: 6,141,052 L17P probably damaging Het
C2cd2 T C 16: 97,870,220 E493G probably damaging Het
Cdk19 A G 10: 40,469,648 E239G possibly damaging Het
Cit A G 5: 115,938,755 D719G probably damaging Het
Commd3 T C 2: 18,673,928 V58A possibly damaging Het
Cyp2c29 A C 19: 39,325,023 D360A probably damaging Het
Eps8 A G 6: 137,505,479 Y492H probably benign Het
Gk A G X: 85,760,601 L78P possibly damaging Het
Gm5884 A T 6: 128,646,203 noncoding transcript Het
Lat2 A T 5: 134,606,776 probably null Het
Lrrc4c C A 2: 97,630,385 S452* probably null Het
Ntsr2 T C 12: 16,659,848 C377R probably damaging Het
Padi3 A C 4: 140,803,624 M29R possibly damaging Het
Pcdh9 A G 14: 93,326,694 S1067P probably damaging Het
Prrc2a T C 17: 35,154,983 D1462G probably damaging Het
Rassf4 A G 6: 116,645,128 F168L possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Siglec1 C T 2: 131,079,325 R642Q probably benign Het
Snrnp200 T G 2: 127,230,135 V1214G possibly damaging Het
Sorcs3 G A 19: 48,603,864 G323S probably benign Het
Spidr A G 16: 16,114,969 V149A possibly damaging Het
Stat4 A T 1: 52,074,697 I189F probably benign Het
Tep1 T C 14: 50,843,184 Y1387C probably damaging Het
Tmprss9 G A 10: 80,894,428 probably null Het
Other mutations in Amy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03215:Amy1 APN 3 113556000 missense 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 2012-04-20