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)
|
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
Domain | Start | End | E-Value | Type |
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
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
|
Meta Mutation Damage Score |
0.5222 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |