Incidental Mutation 'IGL01451:Amigo2'
| ID |
84633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amigo2
|
| Ensembl Gene |
ENSMUSG00000048218 |
| Gene Name |
adhesion molecule with Ig like domain 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
IGL01451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97142006-97145168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 97143107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 438
(S438R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053106]
[ENSMUST00000059433]
[ENSMUST00000229890]
|
| AlphaFold |
Q80ZD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053106
AA Change: S438R
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000059913
Gene: ENSMUSG00000048218
AA Change: S438R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
LRRNT
|
39 |
71 |
7e-1 |
SMART |
|
LRR
|
91 |
114 |
2.63e0 |
SMART |
|
LRR
|
115 |
138 |
6.96e0 |
SMART |
|
LRR_TYP
|
139 |
162 |
4.47e-3 |
SMART |
|
LRR
|
163 |
186 |
1.07e0 |
SMART |
|
LRR
|
190 |
214 |
1.06e2 |
SMART |
|
LRRCT
|
227 |
282 |
4.74e-3 |
SMART |
|
IGc2
|
300 |
369 |
9.34e-4 |
SMART |
|
transmembrane domain
|
397 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059433
|
| SMART Domains |
Protein: ENSMUSP00000055485
Gene: ENSMUSG00000044250
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC-Esterase
|
1 |
254 |
5.1e-53 |
PFAM |
|
low complexity region
|
295 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229890
AA Change: S438R
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
A |
G |
3: 124,373,527 (GRCm39) |
S23P |
possibly damaging |
Het |
| Adam1a |
T |
C |
5: 121,657,439 (GRCm39) |
Y618C |
probably benign |
Het |
| Atp5me |
T |
C |
5: 108,581,922 (GRCm39) |
I21V |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,365,017 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,260,390 (GRCm39) |
Y984H |
probably damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,045,367 (GRCm39) |
I469F |
possibly damaging |
Het |
| Edem3 |
C |
T |
1: 151,694,379 (GRCm39) |
T886I |
probably benign |
Het |
| Gart |
T |
C |
16: 91,422,400 (GRCm39) |
T706A |
probably benign |
Het |
| Gfpt2 |
A |
T |
11: 49,698,517 (GRCm39) |
|
probably benign |
Het |
| Gm11541 |
T |
G |
11: 94,586,495 (GRCm39) |
D84A |
unknown |
Het |
| Gne |
T |
C |
4: 44,041,860 (GRCm39) |
|
probably null |
Het |
| Gria4 |
A |
T |
9: 4,503,652 (GRCm39) |
D321E |
probably benign |
Het |
| Ift122 |
T |
G |
6: 115,889,565 (GRCm39) |
|
probably null |
Het |
| Lcp2 |
A |
T |
11: 33,997,345 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
C |
T |
6: 88,868,948 (GRCm39) |
|
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,687,225 (GRCm39) |
I225V |
probably benign |
Het |
| Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,751,492 (GRCm39) |
|
probably null |
Het |
| Slc25a39 |
T |
C |
11: 102,295,726 (GRCm39) |
T138A |
probably damaging |
Het |
| St6galnac1 |
A |
C |
11: 116,660,165 (GRCm39) |
S49R |
probably benign |
Het |
| Stat1 |
T |
C |
1: 52,178,502 (GRCm39) |
L312P |
probably damaging |
Het |
| Tmem198 |
T |
C |
1: 75,461,014 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Treml4 |
T |
C |
17: 48,572,023 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,786,933 (GRCm39) |
D503G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,775,617 (GRCm39) |
E1854D |
unknown |
Het |
| Ubqln3 |
A |
T |
7: 103,791,403 (GRCm39) |
M229K |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,539,457 (GRCm39) |
T939A |
probably damaging |
Het |
|
| Other mutations in Amigo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Amigo2
|
APN |
15 |
97,143,327 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01510:Amigo2
|
APN |
15 |
97,142,962 (GRCm39) |
missense |
probably benign |
|
|
IGL02496:Amigo2
|
APN |
15 |
97,143,494 (GRCm39) |
nonsense |
probably null |
|
|
IGL02720:Amigo2
|
APN |
15 |
97,143,578 (GRCm39) |
nonsense |
probably null |
|
|
R0288:Amigo2
|
UTSW |
15 |
97,143,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Amigo2
|
UTSW |
15 |
97,144,261 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0696:Amigo2
|
UTSW |
15 |
97,143,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1188:Amigo2
|
UTSW |
15 |
97,143,594 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1639:Amigo2
|
UTSW |
15 |
97,143,879 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3076:Amigo2
|
UTSW |
15 |
97,143,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3837:Amigo2
|
UTSW |
15 |
97,143,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4378:Amigo2
|
UTSW |
15 |
97,143,859 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5196:Amigo2
|
UTSW |
15 |
97,143,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Amigo2
|
UTSW |
15 |
97,143,607 (GRCm39) |
nonsense |
probably null |
|
|
R6191:Amigo2
|
UTSW |
15 |
97,143,419 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6326:Amigo2
|
UTSW |
15 |
97,143,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6738:Amigo2
|
UTSW |
15 |
97,143,345 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7102:Amigo2
|
UTSW |
15 |
97,143,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:Amigo2
|
UTSW |
15 |
97,142,956 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7615:Amigo2
|
UTSW |
15 |
97,143,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8269:Amigo2
|
UTSW |
15 |
97,144,112 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8304:Amigo2
|
UTSW |
15 |
97,144,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8333:Amigo2
|
UTSW |
15 |
97,143,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Amigo2
|
UTSW |
15 |
97,143,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Amigo2
|
UTSW |
15 |
97,143,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Amigo2
|
UTSW |
15 |
97,143,774 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-11-11 |
Incidental Mutation