Incidental Mutation 'R0748:Amigo1'
| ID |
70218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amigo1
|
| Ensembl Gene |
ENSMUSG00000050947 |
| Gene Name |
adhesion molecule with Ig like domain 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108093651-108099602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108095946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 482
(S482G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050909]
[ENSMUST00000106656]
[ENSMUST00000106659]
|
| AlphaFold |
Q80ZD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050909
AA Change: S482G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061244
Gene: ENSMUSG00000050947
AA Change: S482G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
4.45e-2 |
SMART |
|
LRR_TYP
|
85 |
108 |
3.83e-2 |
SMART |
|
LRR_TYP
|
109 |
132 |
8.94e-3 |
SMART |
|
LRR
|
133 |
156 |
2.32e-1 |
SMART |
|
LRR
|
157 |
180 |
6.57e-1 |
SMART |
|
LRR
|
184 |
207 |
1.99e0 |
SMART |
|
LRRCT
|
221 |
271 |
3.59e-3 |
SMART |
|
IG
|
275 |
358 |
6.65e-9 |
SMART |
|
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106656
AA Change: S482G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102267
Gene: ENSMUSG00000050947
AA Change: S482G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
4.45e-2 |
SMART |
|
LRR_TYP
|
85 |
108 |
3.83e-2 |
SMART |
|
LRR_TYP
|
109 |
132 |
8.94e-3 |
SMART |
|
LRR
|
133 |
156 |
2.32e-1 |
SMART |
|
LRR
|
157 |
180 |
6.57e-1 |
SMART |
|
LRR
|
184 |
207 |
1.99e0 |
SMART |
|
LRRCT
|
221 |
271 |
3.59e-3 |
SMART |
|
IG
|
275 |
358 |
6.65e-9 |
SMART |
|
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106659
|
| SMART Domains |
Protein: ENSMUSP00000102270
Gene: ENSMUSG00000050947
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
4.45e-2 |
SMART |
|
LRR_TYP
|
85 |
108 |
3.83e-2 |
SMART |
|
LRR_TYP
|
109 |
132 |
8.94e-3 |
SMART |
|
LRR
|
133 |
156 |
2.32e-1 |
SMART |
|
LRR
|
157 |
180 |
6.57e-1 |
SMART |
|
LRR
|
184 |
207 |
1.99e0 |
SMART |
|
LRRCT
|
221 |
271 |
3.59e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106661
|
| SMART Domains |
Protein: ENSMUSP00000102272
Gene: ENSMUSG00000050947
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
|
LRRNT
|
167 |
199 |
4.45e-2 |
SMART |
|
LRR_TYP
|
219 |
242 |
3.83e-2 |
SMART |
|
LRR_TYP
|
243 |
266 |
8.94e-3 |
SMART |
|
LRR
|
267 |
290 |
2.32e-1 |
SMART |
|
LRR
|
291 |
314 |
6.57e-1 |
SMART |
|
LRR
|
318 |
341 |
1.99e0 |
SMART |
|
LRRCT
|
355 |
405 |
3.59e-3 |
SMART |
|
IG
|
409 |
492 |
6.65e-9 |
SMART |
|
low complexity region
|
514 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143109
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155782
AA Change: S177G
|
| Meta Mutation Damage Score |
0.0855 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,874 (GRCm39) |
V718A |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,379 (GRCm39) |
Q202R |
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,262,997 (GRCm39) |
V787A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,977 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,446,343 (GRCm39) |
E920G |
probably damaging |
Het |
| Gm9881 |
T |
C |
16: 90,967,313 (GRCm39) |
N137S |
unknown |
Het |
| Hps4 |
A |
G |
5: 112,522,780 (GRCm39) |
E546G |
probably damaging |
Het |
| Htr2b |
A |
G |
1: 86,038,528 (GRCm39) |
I26T |
probably benign |
Het |
| Insr |
A |
C |
8: 3,308,841 (GRCm39) |
M65R |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,241 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,083 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
C |
2: 162,813,084 (GRCm39) |
|
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,558,359 (GRCm39) |
I175M |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,608,331 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,348,508 (GRCm39) |
S46P |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,034,571 (GRCm39) |
Y629N |
probably damaging |
Het |
| Or10a49 |
C |
A |
7: 108,468,357 (GRCm39) |
M1I |
probably null |
Het |
| Pcsk6 |
T |
C |
7: 65,688,716 (GRCm39) |
|
probably benign |
Het |
| Rdx |
G |
C |
9: 51,976,160 (GRCm39) |
V33L |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,364,306 (GRCm39) |
L4535P |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,164 (GRCm39) |
T66S |
probably damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,198 (GRCm39) |
D66G |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,446,714 (GRCm39) |
I2920T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,882,580 (GRCm39) |
N351S |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,241,164 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,216,988 (GRCm39) |
S489P |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,424 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Amigo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02093:Amigo1
|
APN |
3 |
108,095,214 (GRCm39) |
missense |
probably benign |
|
|
IGL02306:Amigo1
|
APN |
3 |
108,095,302 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0675:Amigo1
|
UTSW |
3 |
108,098,985 (GRCm39) |
splice site |
probably benign |
|
|
R1613:Amigo1
|
UTSW |
3 |
108,095,536 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1991:Amigo1
|
UTSW |
3 |
108,094,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4116:Amigo1
|
UTSW |
3 |
108,095,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4378:Amigo1
|
UTSW |
3 |
108,099,069 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4916:Amigo1
|
UTSW |
3 |
108,094,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Amigo1
|
UTSW |
3 |
108,095,086 (GRCm39) |
splice site |
probably null |
|
|
R6074:Amigo1
|
UTSW |
3 |
108,099,009 (GRCm39) |
nonsense |
probably null |
|
|
R6971:Amigo1
|
UTSW |
3 |
108,095,452 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7228:Amigo1
|
UTSW |
3 |
108,094,546 (GRCm39) |
missense |
probably benign |
|
|
R8012:Amigo1
|
UTSW |
3 |
108,095,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8119:Amigo1
|
UTSW |
3 |
108,094,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8498:Amigo1
|
UTSW |
3 |
108,095,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8785:Amigo1
|
UTSW |
3 |
108,094,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9217:Amigo1
|
UTSW |
3 |
108,095,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Amigo1
|
UTSW |
3 |
108,095,034 (GRCm39) |
missense |
probably benign |
|
|
X0025:Amigo1
|
UTSW |
3 |
108,095,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Amigo1
|
UTSW |
3 |
108,095,392 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGATGATGGTTTTGACCGGCG -3'
(R):5'- GCTATCAATGTGACTTCCCGACCAG -3'
Sequencing Primer
(F):5'- GGGTGGCCTTCCTGGAAC -3'
(R):5'- TATCCATAGGTGAAACTCGCAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation