Incidental Mutation 'R4116:Amigo1'
| ID |
314624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amigo1
|
| Ensembl Gene |
ENSMUSG00000050947 |
| Gene Name |
adhesion molecule with Ig like domain 1 |
| Synonyms |
|
| MMRRC Submission |
040859-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4116 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108093651-108099602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108095761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 420
(T420I)
|
| 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: T420I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061244
Gene: ENSMUSG00000050947
AA Change: T420I
| 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: T420I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102267
Gene: ENSMUSG00000050947
AA Change: T420I
| 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 |
unknown
Transcript: ENSMUST00000106661
AA Change: T134I
|
| SMART Domains |
Protein: ENSMUSP00000102272
Gene: ENSMUSG00000050947
AA Change: T134I
| 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: T115I
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,634,817 (GRCm39) |
F395L |
possibly damaging |
Het |
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Cald1 |
C |
T |
6: 34,722,654 (GRCm39) |
R107C |
probably damaging |
Het |
| Cast |
C |
T |
13: 74,872,956 (GRCm39) |
E444K |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,377 (GRCm39) |
E308G |
probably damaging |
Het |
| Crybg1 |
T |
G |
10: 43,875,158 (GRCm39) |
N650T |
possibly damaging |
Het |
| Cyp19a1 |
T |
A |
9: 54,076,025 (GRCm39) |
R276S |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
| Hoxd13 |
C |
A |
2: 74,498,832 (GRCm39) |
A60E |
possibly damaging |
Het |
| Igkv3-7 |
G |
T |
6: 70,584,923 (GRCm39) |
G88C |
probably damaging |
Het |
| Kcnk12 |
GGCATCGC |
GGCATCGCATCGC |
17: 88,053,584 (GRCm39) |
|
probably null |
Het |
| Klhl30 |
C |
A |
1: 91,281,830 (GRCm39) |
Q144K |
probably benign |
Het |
| Kprp |
A |
T |
3: 92,731,275 (GRCm39) |
S592T |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,047,589 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
A |
T |
8: 120,268,391 (GRCm39) |
M260K |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,673,476 (GRCm39) |
T767A |
probably benign |
Het |
| Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,683,320 (GRCm39) |
I22T |
probably benign |
Het |
| Or7g27 |
T |
G |
9: 19,249,940 (GRCm39) |
F61L |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,409,113 (GRCm39) |
V1369A |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,622,560 (GRCm39) |
F365Y |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Sema4f |
G |
A |
6: 82,894,887 (GRCm39) |
T436M |
probably benign |
Het |
| Sf3a2 |
A |
G |
10: 80,637,175 (GRCm39) |
T37A |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,623,723 (GRCm39) |
M41V |
probably benign |
Het |
| Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,433,928 (GRCm39) |
L911P |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,977,853 (GRCm39) |
I1433F |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,384,405 (GRCm39) |
V644I |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,227,615 (GRCm39) |
L210P |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,277,909 (GRCm39) |
Y229H |
probably damaging |
Het |
| Unc5b |
G |
T |
10: 60,610,479 (GRCm39) |
T446K |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,521,040 (GRCm39) |
D604E |
probably benign |
Het |
| Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (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 |
|
|
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 |
|
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'- ACTTCACCTTGCACGGACAC -3'
(R):5'- CACCACAATGGGTGTATCAGAAAAG -3'
Sequencing Primer
(F):5'- TTGCACGGACACCATGAC -3'
(R):5'- ACCGACTCTGGATCGGACATC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation