Incidental Mutation 'R3437:Amy1'
ID 267221
Institutional Source Beutler Lab
Gene Symbol Amy1
Ensembl Gene ENSMUSG00000074264
Gene Name amylase 1, salivary
Synonyms Amy-1
MMRRC Submission 040655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R3437 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 113349601-113371399 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113349658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 504 (A504V)
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: A504V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: A504V

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: A504V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: A504V

DomainStartEndE-ValueType
Aamy 26 413 6.31e-97 SMART
Aamy_C 422 510 4.02e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172885
Meta Mutation Damage Score 0.5222 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,616,253 (GRCm39) L127R probably null Het
Ambp T C 4: 63,067,721 (GRCm39) E163G probably benign Het
Angptl3 A T 4: 98,921,540 (GRCm39) K219N probably benign Het
Atp6v1g1 A G 4: 63,468,255 (GRCm39) N86S probably benign Het
Avl9 T C 6: 56,713,612 (GRCm39) V290A probably benign Het
Bad A G 19: 6,919,799 (GRCm39) R37G probably benign Het
Bicra T C 7: 15,723,223 (GRCm39) D98G possibly damaging Het
Cfap251 A G 5: 123,392,435 (GRCm39) probably benign Het
Col4a4 G A 1: 82,474,889 (GRCm39) T650M unknown Het
Cyp11b2 T C 15: 74,727,298 (GRCm39) R128G probably benign Het
Dst T C 1: 34,229,303 (GRCm39) S1974P probably damaging Het
Fabp1 T C 6: 71,178,595 (GRCm39) L24P probably benign Het
Flnb T C 14: 7,942,057 (GRCm38) V2345A probably damaging Het
Gmnc G T 16: 26,779,217 (GRCm39) H221Q probably benign Het
Homer1 T C 13: 93,502,929 (GRCm39) probably benign Het
Kit A G 5: 75,806,565 (GRCm39) D690G probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mc3r C T 2: 172,091,588 (GRCm39) T270I probably benign Het
Mrgpra3 A C 7: 47,239,314 (GRCm39) L204W probably damaging Het
Mroh1 C T 15: 76,317,808 (GRCm39) T839I possibly damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or2n1d A G 17: 38,646,323 (GRCm39) I92V probably damaging Het
Or5af1 A T 11: 58,722,150 (GRCm39) M57L probably damaging Het
P4ha3 C T 7: 99,934,831 (GRCm39) A31V possibly damaging Het
Plch2 A G 4: 155,075,470 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,647 (GRCm39) probably null Het
Polq A T 16: 36,882,699 (GRCm39) N1342I probably damaging Het
Pter T A 2: 13,005,805 (GRCm39) L326H probably benign Het
Pwwp2a C T 11: 43,597,015 (GRCm39) Q452* probably null Het
Slc8a2 T G 7: 15,892,810 (GRCm39) V824G probably damaging Het
Slfn2 A T 11: 82,960,390 (GRCm39) H123L probably benign Het
Tmem132e A G 11: 82,335,156 (GRCm39) Y654C probably damaging Het
Trim14 C T 4: 46,523,739 (GRCm39) V100I possibly damaging Het
Tro G A X: 149,429,252 (GRCm39) probably benign Het
Uspl1 T A 5: 149,151,507 (GRCm39) probably benign Het
Uty A G Y: 1,158,336 (GRCm39) I522T probably benign Het
Vmn1r120 A C 7: 20,787,582 (GRCm39) L43W probably damaging Het
Vmn2r16 A T 5: 109,478,362 (GRCm39) D39V probably damaging Het
Washc4 T A 10: 83,405,866 (GRCm39) I454N probably benign Het
Wnt16 T C 6: 22,298,133 (GRCm39) V333A probably damaging Het
Ylpm1 T C 12: 85,096,644 (GRCm39) probably null Het
Zfy1 A T Y: 726,357 (GRCm39) D469E possibly damaging Het
Other mutations in Amy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Amy1 APN 3 113,349,781 (GRCm39) missense probably damaging 1.00
IGL00966:Amy1 APN 3 113,349,689 (GRCm39) missense probably benign 0.00
IGL01153:Amy1 APN 3 113,349,724 (GRCm39) missense possibly damaging 0.69
IGL02415:Amy1 APN 3 113,357,234 (GRCm39) missense probably benign 0.27
IGL02555:Amy1 APN 3 113,358,541 (GRCm39) missense probably benign 0.01
IGL02572:Amy1 APN 3 113,358,722 (GRCm39) splice site probably benign
IGL03215:Amy1 APN 3 113,349,649 (GRCm39) missense probably benign
R0196:Amy1 UTSW 3 113,363,070 (GRCm39) missense probably benign
R0230:Amy1 UTSW 3 113,352,079 (GRCm39) missense probably benign 0.02
R0586:Amy1 UTSW 3 113,356,418 (GRCm39) unclassified probably benign
R1789:Amy1 UTSW 3 113,351,814 (GRCm39) missense possibly damaging 0.56
R1823:Amy1 UTSW 3 113,356,376 (GRCm39) missense probably null
R1922:Amy1 UTSW 3 113,358,544 (GRCm39) missense probably damaging 0.97
R2080:Amy1 UTSW 3 113,351,743 (GRCm39) missense probably benign 0.01
R3147:Amy1 UTSW 3 113,363,697 (GRCm39) start gained probably benign
R4961:Amy1 UTSW 3 113,355,498 (GRCm39) missense probably damaging 1.00
R4977:Amy1 UTSW 3 113,363,026 (GRCm39) splice site probably null
R5304:Amy1 UTSW 3 113,352,013 (GRCm39) missense probably damaging 1.00
R5500:Amy1 UTSW 3 113,356,371 (GRCm39) missense probably damaging 1.00
R5503:Amy1 UTSW 3 113,349,709 (GRCm39) missense probably benign 0.26
R5706:Amy1 UTSW 3 113,349,769 (GRCm39) missense probably damaging 0.99
R5866:Amy1 UTSW 3 113,355,569 (GRCm39) missense possibly damaging 0.93
R5956:Amy1 UTSW 3 113,357,311 (GRCm39) missense probably benign 0.04
R6110:Amy1 UTSW 3 113,355,549 (GRCm39) missense probably damaging 1.00
R6259:Amy1 UTSW 3 113,363,059 (GRCm39) missense possibly damaging 0.73
R6278:Amy1 UTSW 3 113,355,339 (GRCm39) missense probably damaging 1.00
R6429:Amy1 UTSW 3 113,363,158 (GRCm39) missense probably damaging 1.00
R6893:Amy1 UTSW 3 113,357,281 (GRCm39) missense probably benign 0.00
R7136:Amy1 UTSW 3 113,357,248 (GRCm39) missense probably damaging 1.00
R7463:Amy1 UTSW 3 113,363,533 (GRCm39) nonsense probably null
R9193:Amy1 UTSW 3 113,356,278 (GRCm39) missense probably benign 0.22
Z1177:Amy1 UTSW 3 113,352,002 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGATGGCTTCACAAATATGAG -3'
(R):5'- TTTTCAGGGCTTTGTCAGAAAC -3'

Sequencing Primer
(F):5'- TCAAAATCCTGGGTGTAATTTTCTC -3'
(R):5'- CAGAAACTTTACAGACTGGTCTTCC -3'
Posted On 2015-02-18