Incidental Mutation 'IGL02555:Amy1'
ID298469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amy1
Ensembl Gene ENSMUSG00000074264
Gene Nameamylase 1, salivary
SynonymsAmy-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL02555
Quality Score
Status
Chromosome3
Chromosomal Location113555710-113606699 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 113564892 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 164 (E164K)
Ref Sequence ENSEMBL: ENSMUSP00000102150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067980] [ENSMUST00000106540] [ENSMUST00000142505] [ENSMUST00000174147]
Predicted Effect probably benign
Transcript: ENSMUST00000067980
AA Change: E164K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: E164K

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: E164K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: E164K

DomainStartEndE-ValueType
Aamy 26 413 6.31e-97 SMART
Aamy_C 422 510 4.02e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142505
AA Change: E164K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000120493
Gene: ENSMUSG00000074264
AA Change: E164K

DomainStartEndE-ValueType
Pfam:Alpha-amylase 36 271 1.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172885
Predicted Effect probably benign
Transcript: ENSMUST00000174147
SMART Domains Protein: ENSMUSP00000133875
Gene: ENSMUSG00000074264

DomainStartEndE-ValueType
Pfam:Alpha-amylase 35 129 2e-10 PFAM
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik G T 15: 74,881,608 probably benign Het
Actr1b G A 1: 36,701,747 R199C probably damaging Het
Adam9 T C 8: 24,966,736 N661D probably damaging Het
Arid5b A C 10: 68,101,904 D221E probably benign Het
B3galt1 G T 2: 68,118,561 V207F probably benign Het
Begain A G 12: 109,034,189 S219P probably damaging Het
Clip1 A G 5: 123,621,794 probably null Het
Cps1 A G 1: 67,214,021 K1224R probably benign Het
Dnm1 A G 2: 32,328,038 Y449H probably damaging Het
Epas1 A T 17: 86,829,064 M755L probably benign Het
F13b T C 1: 139,517,186 C525R probably damaging Het
Fmnl2 A G 2: 53,126,851 probably null Het
Gm5346 A T 8: 43,625,268 C640S probably damaging Het
Ighv5-15 A G 12: 113,827,115 F3L probably benign Het
Inpp4a A G 1: 37,379,968 Q538R possibly damaging Het
Insrr A T 3: 87,813,817 M1092L probably damaging Het
Itgb8 C T 12: 119,189,881 V300M probably damaging Het
Kcnk5 A T 14: 20,141,985 H369Q probably benign Het
Olfr1023 G A 2: 85,887,398 M199I probably benign Het
Olfr1249 G A 2: 89,630,203 R232C probably damaging Het
Olfr1294 A G 2: 111,537,917 V124A probably damaging Het
Olfr24 T A 9: 18,755,473 H54L probably benign Het
Plxdc2 A G 2: 16,729,341 I417M probably benign Het
Polr1a G A 6: 71,920,457 E186K probably damaging Het
Ppp3cb A T 14: 20,530,953 F134L probably damaging Het
Prox2 C T 12: 85,095,260 W56* probably null Het
Scaf4 C T 16: 90,250,305 A395T unknown Het
Sh3tc2 G T 18: 61,990,237 A690S probably damaging Het
Slc34a1 T C 13: 55,401,168 S144P possibly damaging Het
Slc6a6 C T 6: 91,748,330 probably benign Het
Tubgcp3 A T 8: 12,639,595 M557K probably benign Het
Vmn2r103 A T 17: 19,811,611 D549V probably damaging Het
Washc2 T A 6: 116,209,100 N90K 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
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
Posted On2015-04-16