Incidental Mutation 'R5866:Amy1'
ID |
454163 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amy1
|
Ensembl Gene |
ENSMUSG00000074264 |
Gene Name |
amylase 1, salivary |
Synonyms |
Amy-1 |
MMRRC Submission |
044075-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R5866 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
113349601-113371399 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113355569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 302
(M302K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067980]
[ENSMUST00000106540]
[ENSMUST00000142505]
[ENSMUST00000174147]
|
AlphaFold |
P00687 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067980
AA Change: M302K
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000070368 Gene: ENSMUSG00000074264 AA Change: M302K
Domain | Start | End | E-Value | Type |
Aamy
|
26 |
413 |
6.31e-97 |
SMART |
Aamy_C
|
422 |
510 |
4.02e-49 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106540
AA Change: M302K
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102150 Gene: ENSMUSG00000074264 AA Change: M302K
Domain | Start | End | E-Value | Type |
Aamy
|
26 |
413 |
6.31e-97 |
SMART |
Aamy_C
|
422 |
510 |
4.02e-49 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142505
|
SMART Domains |
Protein: ENSMUSP00000120493 Gene: ENSMUSG00000074264
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:Alpha-amylase
|
35 |
129 |
2e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.3249 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.7%
|
Validation Efficiency |
91% (51/56) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
A |
G |
1: 120,096,814 (GRCm39) |
|
probably benign |
Het |
A530084C06Rik |
G |
A |
13: 31,743,178 (GRCm39) |
A25V |
unknown |
Het |
A730018C14Rik |
T |
C |
12: 112,381,472 (GRCm39) |
|
noncoding transcript |
Het |
Aasdh |
G |
T |
5: 77,024,058 (GRCm39) |
A198E |
probably damaging |
Het |
Abcb8 |
C |
T |
5: 24,607,101 (GRCm39) |
A328V |
probably damaging |
Het |
Ace3 |
C |
A |
11: 105,888,330 (GRCm39) |
H347N |
probably damaging |
Het |
Apol11b |
C |
T |
15: 77,524,747 (GRCm39) |
V13M |
probably null |
Het |
Arfgef2 |
T |
A |
2: 166,678,177 (GRCm39) |
V131E |
possibly damaging |
Het |
Arnt |
T |
A |
3: 95,398,037 (GRCm39) |
|
probably benign |
Het |
Atl1 |
T |
C |
12: 69,972,785 (GRCm39) |
V35A |
probably damaging |
Het |
BC061237 |
A |
T |
14: 44,738,730 (GRCm39) |
D43V |
possibly damaging |
Het |
Cracd |
A |
G |
5: 77,005,384 (GRCm39) |
T582A |
unknown |
Het |
Cyp4f17 |
T |
C |
17: 32,725,887 (GRCm39) |
S7P |
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,393,774 (GRCm39) |
Y70C |
probably damaging |
Het |
Defb34 |
T |
C |
8: 19,176,468 (GRCm39) |
L53P |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,518,567 (GRCm39) |
T525A |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,030,129 (GRCm39) |
|
probably benign |
Het |
Fam83d |
T |
A |
2: 158,621,750 (GRCm39) |
|
probably null |
Het |
Gramd2b |
A |
G |
18: 56,607,108 (GRCm39) |
D74G |
possibly damaging |
Het |
Hax1 |
A |
G |
3: 89,903,035 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
T |
C |
17: 53,263,804 (GRCm39) |
I767T |
probably benign |
Het |
Ldah |
G |
A |
12: 8,270,614 (GRCm39) |
V5I |
possibly damaging |
Het |
Nbeal2 |
A |
G |
9: 110,460,560 (GRCm39) |
V1758A |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,033,967 (GRCm39) |
D363G |
probably damaging |
Het |
Or14j6 |
C |
T |
17: 38,214,700 (GRCm39) |
R88* |
probably null |
Het |
Pdlim7 |
T |
A |
13: 55,646,501 (GRCm39) |
D445V |
probably damaging |
Het |
Phip |
T |
A |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
Pigb |
C |
T |
9: 72,936,966 (GRCm39) |
A215T |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,799,935 (GRCm39) |
S2952C |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,051,775 (GRCm39) |
D148G |
probably damaging |
Het |
Ppp1r36 |
T |
C |
12: 76,473,579 (GRCm39) |
F70S |
possibly damaging |
Het |
Rad52 |
G |
A |
6: 119,889,907 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
T |
A |
9: 96,427,823 (GRCm39) |
T681S |
probably benign |
Het |
Rel |
A |
T |
11: 23,692,724 (GRCm39) |
Y436* |
probably null |
Het |
Sec16a |
G |
A |
2: 26,309,650 (GRCm39) |
P2119S |
probably benign |
Het |
Sema6d |
C |
A |
2: 124,506,262 (GRCm39) |
T733K |
probably benign |
Het |
Sf3b3 |
C |
T |
8: 111,541,266 (GRCm39) |
A950T |
probably benign |
Het |
Slc24a5 |
T |
A |
2: 124,927,591 (GRCm39) |
F297I |
probably damaging |
Het |
Spp2 |
A |
T |
1: 88,340,025 (GRCm39) |
D122V |
possibly damaging |
Het |
Stap1 |
A |
G |
5: 86,225,906 (GRCm39) |
K60R |
probably benign |
Het |
Stat1 |
A |
G |
1: 52,178,423 (GRCm39) |
K286E |
probably damaging |
Het |
Stn1 |
T |
C |
19: 47,505,568 (GRCm39) |
T129A |
probably benign |
Het |
Tagap |
C |
T |
17: 8,152,285 (GRCm39) |
T490I |
probably damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,637,715 (GRCm39) |
E177G |
possibly damaging |
Het |
Tln2 |
A |
T |
9: 67,174,150 (GRCm39) |
L841Q |
probably damaging |
Het |
Tmem59 |
T |
A |
4: 107,047,754 (GRCm39) |
M71K |
probably damaging |
Het |
Ugt2a3 |
G |
A |
5: 87,484,406 (GRCm39) |
T206I |
probably damaging |
Het |
Utp20 |
G |
A |
10: 88,608,421 (GRCm39) |
H1539Y |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,657,387 (GRCm39) |
N1794S |
probably benign |
Het |
Vsig10 |
A |
T |
5: 117,490,814 (GRCm39) |
|
probably null |
Het |
Zfp97 |
T |
A |
17: 17,365,087 (GRCm39) |
F195L |
possibly damaging |
Het |
|
Other mutations in Amy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R3437:Amy1
|
UTSW |
3 |
113,349,658 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GCCAACAGCCATTTTATAGAGTC -3'
(R):5'- CCTGAGATCATCTACATTGCAATC -3'
Sequencing Primer
(F):5'- CCTACCTAGCATCCCAGAAT -3'
(R):5'- TGCAATCTTACATGAAATGTGGATG -3'
|
Posted On |
2017-02-10 |