Incidental Mutation 'R3147:Amy1'
ID |
264274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amy1
|
Ensembl Gene |
ENSMUSG00000074264 |
Gene Name |
amylase 1, salivary |
Synonyms |
Amy-1 |
MMRRC Submission |
040599-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R3147 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
113349601-113371399 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
T to C
at 113363697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067980]
[ENSMUST00000106540]
[ENSMUST00000142505]
[ENSMUST00000174147]
|
AlphaFold |
P00687 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067980
|
SMART Domains |
Protein: ENSMUSP00000070368 Gene: ENSMUSG00000074264
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
|
SMART Domains |
Protein: ENSMUSP00000102150 Gene: ENSMUSG00000074264
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 |
probably benign
Transcript: ENSMUST00000174147
|
SMART Domains |
Protein: ENSMUSP00000133875 Gene: ENSMUSG00000074264
Domain | Start | End | E-Value | Type |
Pfam:Alpha-amylase
|
35 |
129 |
2e-10 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
Atf2 |
T |
C |
2: 73,681,283 (GRCm39) |
|
probably null |
Het |
Atosa |
A |
G |
9: 74,916,120 (GRCm39) |
I240V |
probably benign |
Het |
Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,805,822 (GRCm39) |
N311S |
probably damaging |
Het |
Dbx1 |
C |
A |
7: 49,286,297 (GRCm39) |
R56L |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,194,003 (GRCm39) |
|
probably null |
Het |
Elmod3 |
T |
G |
6: 72,563,485 (GRCm39) |
T48P |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,324,865 (GRCm39) |
S820P |
probably damaging |
Het |
Gimap8 |
T |
C |
6: 48,627,440 (GRCm39) |
V138A |
probably damaging |
Het |
H1f5 |
T |
C |
13: 21,964,285 (GRCm39) |
|
probably benign |
Het |
Il6ra |
G |
T |
3: 89,793,235 (GRCm39) |
P305Q |
probably benign |
Het |
Kcng3 |
A |
G |
17: 83,895,749 (GRCm39) |
V239A |
possibly damaging |
Het |
Kcnrg |
T |
C |
14: 61,845,140 (GRCm39) |
F60S |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,044,653 (GRCm39) |
D184G |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,065,771 (GRCm39) |
L206Q |
probably damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,277 (GRCm39) |
D344G |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
Mtcl2 |
T |
G |
2: 156,862,284 (GRCm39) |
K1548N |
possibly damaging |
Het |
Mtfr1 |
T |
C |
3: 19,271,374 (GRCm39) |
V182A |
probably benign |
Het |
Or14a259 |
A |
G |
7: 86,013,092 (GRCm39) |
L151S |
probably benign |
Het |
Or5p64 |
C |
T |
7: 107,854,883 (GRCm39) |
G154D |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGAGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
Sox7 |
A |
T |
14: 64,186,083 (GRCm39) |
Y373F |
probably damaging |
Het |
Tuba1b |
T |
C |
15: 98,830,386 (GRCm39) |
T145A |
probably benign |
Het |
Usp32 |
T |
A |
11: 84,919,913 (GRCm39) |
N718I |
probably damaging |
Het |
Wapl |
G |
A |
14: 34,447,106 (GRCm39) |
V648M |
probably damaging |
Het |
Zfp85 |
C |
T |
13: 67,900,612 (GRCm39) |
V10M |
probably damaging |
Het |
Zgrf1 |
A |
G |
3: 127,377,797 (GRCm39) |
N1014S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAGCTAAGTATCTCTCACATTCC -3'
(R):5'- CACATACATGTATTTCTGGAAAGGGC -3'
Sequencing Primer
(F):5'- TTCCTTAGCAATATCAACCCAGCG -3'
(R):5'- TTCTGGAAAGGGCTAATATTTCTTC -3'
|
Posted On |
2015-02-05 |