Incidental Mutation 'R4378:Amigo1'
ID |
325182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amigo1
|
Ensembl Gene |
ENSMUSG00000050947 |
Gene Name |
adhesion molecule with Ig like domain 1 |
Synonyms |
|
MMRRC Submission |
041121-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4378 (G1)
|
Quality Score |
171 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
108093651-108099602 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
C to T
at 108099069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050909]
[ENSMUST00000065664]
[ENSMUST00000106655]
[ENSMUST00000106656]
[ENSMUST00000106659]
|
AlphaFold |
Q80ZD8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050909
|
SMART Domains |
Protein: ENSMUSP00000061244 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 |
IG
|
275 |
358 |
6.65e-9 |
SMART |
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065664
|
SMART Domains |
Protein: ENSMUSP00000070361 Gene: ENSMUSG00000048796
Domain | Start | End | E-Value | Type |
B561
|
1 |
127 |
5.49e-40 |
SMART |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106655
|
SMART Domains |
Protein: ENSMUSP00000102266 Gene: ENSMUSG00000048796
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
B561
|
54 |
185 |
4.96e-47 |
SMART |
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106656
|
SMART Domains |
Protein: ENSMUSP00000102267 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 |
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: ENSMUST00000155099
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155782
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,243,644 (GRCm39) |
K1836E |
probably benign |
Het |
Adora1 |
A |
G |
1: 134,130,948 (GRCm39) |
F241S |
probably damaging |
Het |
Akt1s1 |
C |
T |
7: 44,503,384 (GRCm39) |
T168M |
probably damaging |
Het |
Amigo2 |
A |
G |
15: 97,143,859 (GRCm39) |
F188L |
possibly damaging |
Het |
Armc2 |
T |
C |
10: 41,869,078 (GRCm39) |
T29A |
possibly damaging |
Het |
Axl |
G |
A |
7: 25,458,262 (GRCm39) |
A822V |
probably benign |
Het |
Borcs5 |
T |
C |
6: 134,621,292 (GRCm39) |
V21A |
probably benign |
Het |
Cdc42ep3 |
A |
G |
17: 79,642,408 (GRCm39) |
S171P |
probably benign |
Het |
Cmas |
T |
C |
6: 142,718,011 (GRCm39) |
|
probably benign |
Het |
Cyp4f40 |
A |
G |
17: 32,887,003 (GRCm39) |
N158S |
probably null |
Het |
Dnah6 |
G |
T |
6: 73,095,009 (GRCm39) |
N2139K |
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,557,286 (GRCm39) |
H409L |
possibly damaging |
Het |
Exoc1l |
A |
G |
5: 76,648,380 (GRCm39) |
K62R |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,792,622 (GRCm39) |
V584E |
probably damaging |
Het |
Gm9116 |
A |
G |
3: 93,817,786 (GRCm39) |
|
noncoding transcript |
Het |
Gxylt2 |
A |
G |
6: 100,710,161 (GRCm39) |
S101G |
probably benign |
Het |
Hsph1 |
C |
A |
5: 149,559,472 (GRCm39) |
E24* |
probably null |
Het |
Ighv1-56 |
C |
T |
12: 115,206,568 (GRCm39) |
E50K |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrriq1 |
A |
T |
10: 103,038,225 (GRCm39) |
D859E |
probably damaging |
Het |
Mapk7 |
G |
A |
11: 61,384,493 (GRCm39) |
S71L |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,634,424 (GRCm39) |
Y500H |
probably damaging |
Het |
Or1j1 |
T |
C |
2: 36,702,481 (GRCm39) |
M208V |
probably benign |
Het |
Or5d20-ps1 |
G |
T |
2: 87,931,829 (GRCm39) |
N167K |
unknown |
Het |
Phc1 |
T |
C |
6: 122,311,966 (GRCm39) |
N64S |
possibly damaging |
Het |
Ppp4r3b |
T |
A |
11: 29,159,450 (GRCm39) |
N180K |
possibly damaging |
Het |
Primpol |
G |
A |
8: 47,029,218 (GRCm39) |
|
probably benign |
Het |
Prtg |
T |
C |
9: 72,750,042 (GRCm39) |
S149P |
possibly damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,741 (GRCm39) |
S1916G |
probably damaging |
Het |
Rps6ka5 |
A |
T |
12: 100,564,196 (GRCm39) |
Y218N |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,899,833 (GRCm39) |
D1278G |
possibly damaging |
Het |
Sirt1 |
C |
T |
10: 63,174,728 (GRCm39) |
A8T |
probably benign |
Het |
Sobp |
C |
T |
10: 42,897,300 (GRCm39) |
V762I |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,915,581 (GRCm39) |
S1994P |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,347,636 (GRCm39) |
I87T |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,278,004 (GRCm39) |
Y1168C |
probably damaging |
Het |
Trhr |
A |
G |
15: 44,061,023 (GRCm39) |
Y181C |
probably damaging |
Het |
Ube4b |
C |
T |
4: 149,468,255 (GRCm39) |
D174N |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,137,751 (GRCm39) |
H1067Y |
possibly damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,650,746 (GRCm39) |
L153* |
probably null |
Het |
Zfp516 |
T |
A |
18: 83,005,305 (GRCm39) |
D736E |
probably benign |
Het |
Zfp612 |
G |
T |
8: 110,815,683 (GRCm39) |
V258F |
possibly damaging |
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 |
|
R0748:Amigo1
|
UTSW |
3 |
108,095,946 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- ATCTATGGGGCCCCTGAAAGAG -3'
(R):5'- TTATAAAACGCTCTGCCTTGGG -3'
Sequencing Primer
(F):5'- GCCCCTGAAAGAGGCCAG -3'
(R):5'- ATAGATGGTGAATCCTCTACGGCC -3'
|
Posted On |
2015-07-06 |