Incidental Mutation 'IGL01153:Amy1'
| ID |
50815 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amy1
|
| Ensembl Gene |
ENSMUSG00000074264 |
| Gene Name |
amylase 1, salivary |
| Synonyms |
Amy-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
IGL01153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
113349601-113371399 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113349724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 482
(V482A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067980]
[ENSMUST00000106540]
|
| AlphaFold |
P00687 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067980
AA Change: V482A
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: V482A
| 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: V482A
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: V482A
| Domain | Start | End | E-Value | Type |
|---|
|
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,247 (GRCm39) |
I5309V |
probably benign |
Het |
| Ankrd22 |
A |
T |
19: 34,106,229 (GRCm39) |
V81E |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,924,649 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 32,985,502 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,092 (GRCm39) |
E307K |
probably damaging |
Het |
| Cyth2 |
T |
C |
7: 45,457,813 (GRCm39) |
Y120C |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,681,430 (GRCm39) |
D69E |
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,544 (GRCm39) |
M215K |
possibly damaging |
Het |
| Enox2 |
C |
A |
X: 48,151,015 (GRCm39) |
|
probably null |
Het |
| Fam120c |
T |
C |
X: 150,182,801 (GRCm39) |
|
probably null |
Het |
| Fam149b |
A |
G |
14: 20,427,949 (GRCm39) |
T319A |
possibly damaging |
Het |
| Fndc1 |
A |
T |
17: 7,998,874 (GRCm39) |
|
probably null |
Het |
| Gcsh |
T |
A |
8: 117,710,549 (GRCm39) |
D138V |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,837,321 (GRCm39) |
H331Q |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,865,281 (GRCm39) |
N586D |
probably damaging |
Het |
| Idh3g |
A |
G |
X: 72,823,668 (GRCm39) |
V280A |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,550 (GRCm39) |
S115P |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,370 (GRCm39) |
|
probably null |
Het |
| Lyset |
T |
A |
12: 102,711,135 (GRCm39) |
Y119* |
probably null |
Het |
| Mael |
T |
C |
1: 166,029,919 (GRCm39) |
K334E |
possibly damaging |
Het |
| Me3 |
A |
C |
7: 89,498,844 (GRCm39) |
T475P |
probably damaging |
Het |
| Mrpl18 |
A |
G |
17: 13,134,693 (GRCm39) |
L24P |
possibly damaging |
Het |
| Nol4 |
C |
A |
18: 22,902,850 (GRCm39) |
R460L |
probably damaging |
Het |
| Numa1 |
A |
T |
7: 101,643,951 (GRCm39) |
E181V |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,864 (GRCm39) |
I256N |
probably damaging |
Het |
| Pex2 |
A |
T |
3: 5,626,424 (GRCm39) |
H128Q |
probably benign |
Het |
| Pex3 |
A |
T |
10: 13,428,597 (GRCm39) |
|
probably null |
Het |
| Psmb8 |
A |
G |
17: 34,420,215 (GRCm39) |
Y269C |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,615,096 (GRCm39) |
K62R |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,571,846 (GRCm39) |
G613D |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,204 (GRCm39) |
W875R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,845,451 (GRCm39) |
D149G |
possibly damaging |
Het |
| Zfp473 |
A |
G |
7: 44,383,992 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,703 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,396,055 (GRCm39) |
G534R |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation