Incidental Mutation 'R6893:Amy1'
| ID |
538146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amy1
|
| Ensembl Gene |
ENSMUSG00000074264 |
| Gene Name |
amylase 1, salivary |
| Synonyms |
Amy-1 |
| MMRRC Submission |
044987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R6893 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
113349601-113371399 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113357281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 186
(E186G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067980]
[ENSMUST00000106540]
[ENSMUST00000142505]
[ENSMUST00000174147]
|
| AlphaFold |
P00687 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067980
AA Change: E186G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: E186G
| 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: ENSMUST00000106540
AA Change: E186G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: E186G
| 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
AA Change: E186G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120493
Gene: ENSMUSG00000074264
AA Change: E186G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alpha-amylase
|
36 |
271 |
1.4e-21 |
PFAM |
|
| 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 |
0.0726 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.7%
- 20x: 95.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
A |
8: 25,368,770 (GRCm39) |
D538V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,709 (GRCm39) |
I804T |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,446 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cacna1s |
C |
A |
1: 136,005,431 (GRCm39) |
N405K |
probably benign |
Het |
| Casp7 |
T |
C |
19: 56,421,741 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,488 (GRCm39) |
N367S |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,129 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
A |
C |
15: 55,308,044 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,323,784 (GRCm39) |
K424* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,786,184 (GRCm39) |
E366G |
probably damaging |
Het |
| Dpep3 |
T |
C |
8: 106,700,474 (GRCm39) |
K411E |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,475,008 (GRCm39) |
V81E |
probably benign |
Het |
| Ehbp1 |
G |
T |
11: 21,964,945 (GRCm39) |
T1084K |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,770,953 (GRCm39) |
A103V |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,323,722 (GRCm39) |
K525E |
probably benign |
Het |
| Hdac2 |
A |
G |
10: 36,873,003 (GRCm39) |
E287G |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,555,208 (GRCm39) |
T832S |
possibly damaging |
Het |
| Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,909,149 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lipo2 |
G |
T |
19: 33,698,407 (GRCm39) |
Y323* |
probably null |
Het |
| Mettl24 |
C |
T |
10: 40,613,794 (GRCm39) |
R178C |
probably damaging |
Het |
| Naa80 |
A |
G |
9: 107,460,225 (GRCm39) |
E40G |
probably damaging |
Het |
| Ndrg4 |
C |
A |
8: 96,433,229 (GRCm39) |
C66* |
probably null |
Het |
| Nemf |
A |
G |
12: 69,399,110 (GRCm39) |
V140A |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,839,855 (GRCm39) |
F815I |
probably benign |
Het |
| Or4c108 |
A |
G |
2: 88,804,143 (GRCm39) |
F31L |
probably benign |
Het |
| Or5b106 |
A |
C |
19: 13,123,106 (GRCm39) |
S306A |
probably benign |
Het |
| Or8b12c |
A |
C |
9: 37,716,141 (GRCm39) |
*311C |
probably null |
Het |
| Or8b3b |
A |
T |
9: 38,584,355 (GRCm39) |
N141K |
possibly damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,136 (GRCm39) |
E111G |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,809,598 (GRCm39) |
S684P |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,660,562 (GRCm39) |
C352* |
probably null |
Het |
| Plscr2 |
G |
A |
9: 92,172,757 (GRCm39) |
V139I |
probably benign |
Het |
| Ppa1 |
T |
A |
10: 61,508,182 (GRCm39) |
C270S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,844,540 (GRCm39) |
M399L |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,356,098 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,099,285 (GRCm39) |
K267E |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,090,063 (GRCm39) |
T938A |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,023,279 (GRCm39) |
S115R |
probably benign |
Het |
| Stim2 |
C |
T |
5: 54,210,787 (GRCm39) |
T74I |
probably benign |
Het |
| Sult6b2 |
T |
A |
6: 142,750,025 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,401,492 (GRCm39) |
W406R |
probably damaging |
Het |
| Tmprss11b |
A |
G |
5: 86,811,245 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
A |
G |
15: 72,797,499 (GRCm39) |
Y575H |
possibly damaging |
Het |
| Trim63 |
C |
T |
4: 134,050,412 (GRCm39) |
T232M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,598,180 (GRCm39) |
S19578T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Xpo4 |
T |
A |
14: 57,819,767 (GRCm39) |
E1139D |
probably benign |
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 |
|
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 |
|
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'- AAAGGTCTGCTTCCTTGGG -3'
(R):5'- GCAGTATCTGGATCGCCTTTC -3'
Sequencing Primer
(F):5'- AAAGGTCTGCTTCCTTGGGAGAAC -3'
(R):5'- GGTGGCCCCATACCTCAATTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation