Incidental Mutation 'IGL01648:Lingo1'
| ID |
102741 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lingo1
|
| Ensembl Gene |
ENSMUSG00000049556 |
| Gene Name |
leucine rich repeat and Ig domain containing 1 |
| Synonyms |
UNQ201, 4930471K13Rik, Lrrn6a, LINGO-1, LERN1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
IGL01648
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
56525759-56703752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56527111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 493
(A493S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053568]
[ENSMUST00000114247]
[ENSMUST00000114256]
[ENSMUST00000210032]
|
| AlphaFold |
Q9D1T0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053568
AA Change: A493S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059050
Gene: ENSMUSG00000049556
AA Change: A493S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
LRRNT
|
35 |
69 |
1.6e-3 |
SMART |
|
LRR
|
88 |
111 |
6.22e0 |
SMART |
|
LRR_TYP
|
112 |
135 |
5.81e-2 |
SMART |
|
LRR
|
136 |
159 |
6.57e-1 |
SMART |
|
LRR
|
160 |
183 |
3.02e0 |
SMART |
|
LRR
|
184 |
207 |
1.51e0 |
SMART |
|
LRR
|
208 |
231 |
1.81e2 |
SMART |
|
LRR
|
280 |
303 |
8.26e1 |
SMART |
|
LRR
|
304 |
327 |
9.24e1 |
SMART |
|
LRR
|
328 |
351 |
1.43e-1 |
SMART |
|
LRRCT
|
363 |
416 |
4.15e-2 |
SMART |
|
IGc2
|
431 |
498 |
1.58e-10 |
SMART |
|
transmembrane domain
|
554 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114247
AA Change: A493S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109885
Gene: ENSMUSG00000049556
AA Change: A493S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
LRRNT
|
35 |
69 |
1.6e-3 |
SMART |
|
LRR
|
88 |
111 |
6.22e0 |
SMART |
|
LRR_TYP
|
112 |
135 |
5.81e-2 |
SMART |
|
LRR
|
136 |
159 |
6.57e-1 |
SMART |
|
LRR
|
160 |
183 |
3.02e0 |
SMART |
|
LRR
|
184 |
207 |
1.51e0 |
SMART |
|
LRR
|
208 |
231 |
1.81e2 |
SMART |
|
LRR
|
280 |
303 |
8.26e1 |
SMART |
|
LRR
|
304 |
327 |
9.24e1 |
SMART |
|
LRR
|
328 |
351 |
1.43e-1 |
SMART |
|
LRRCT
|
363 |
416 |
4.15e-2 |
SMART |
|
IGc2
|
431 |
498 |
1.58e-10 |
SMART |
|
transmembrane domain
|
554 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114256
AA Change: A499S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109894
Gene: ENSMUSG00000049556
AA Change: A499S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
LRRNT
|
41 |
75 |
1.6e-3 |
SMART |
|
LRR
|
94 |
117 |
6.22e0 |
SMART |
|
LRR_TYP
|
118 |
141 |
5.81e-2 |
SMART |
|
LRR
|
142 |
165 |
6.57e-1 |
SMART |
|
LRR
|
166 |
189 |
3.02e0 |
SMART |
|
LRR
|
190 |
213 |
1.51e0 |
SMART |
|
LRR
|
214 |
237 |
1.81e2 |
SMART |
|
LRR
|
286 |
309 |
8.26e1 |
SMART |
|
LRR
|
310 |
333 |
9.24e1 |
SMART |
|
LRR
|
334 |
357 |
1.43e-1 |
SMART |
|
LRRCT
|
369 |
422 |
4.15e-2 |
SMART |
|
IGc2
|
437 |
504 |
1.58e-10 |
SMART |
|
transmembrane domain
|
560 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210032
AA Change: A493S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset CNS myelination. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
G |
5: 26,695,398 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
C |
T |
10: 79,846,914 (GRCm39) |
S1664L |
probably damaging |
Het |
| Aebp1 |
G |
T |
11: 5,820,607 (GRCm39) |
R499L |
possibly damaging |
Het |
| Agt |
C |
A |
8: 125,291,145 (GRCm39) |
S54I |
probably benign |
Het |
| Chic2 |
T |
A |
5: 75,187,860 (GRCm39) |
S67C |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,508,451 (GRCm39) |
*3066Y |
probably null |
Het |
| Fan1 |
A |
G |
7: 64,022,297 (GRCm39) |
S319P |
probably damaging |
Het |
| Fgd5 |
C |
T |
6: 91,966,340 (GRCm39) |
Q700* |
probably null |
Het |
| Frem2 |
T |
A |
3: 53,443,153 (GRCm39) |
H2537L |
possibly damaging |
Het |
| Med20 |
A |
G |
17: 47,933,925 (GRCm39) |
H180R |
possibly damaging |
Het |
| Megf8 |
T |
C |
7: 25,026,997 (GRCm39) |
C152R |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,502,805 (GRCm39) |
F59S |
probably damaging |
Het |
| Or4a39 |
A |
T |
2: 89,236,535 (GRCm39) |
M296K |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,801,715 (GRCm39) |
D171G |
probably damaging |
Het |
| Rbm47 |
A |
T |
5: 66,182,321 (GRCm39) |
N437K |
possibly damaging |
Het |
| Tpra1 |
T |
A |
6: 88,886,653 (GRCm39) |
|
probably benign |
Het |
| Tradd |
A |
G |
8: 105,986,418 (GRCm39) |
L118S |
probably damaging |
Het |
| Trib1 |
G |
T |
15: 59,526,350 (GRCm39) |
V307F |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,498,545 (GRCm39) |
M8K |
probably benign |
Het |
| Xrcc6 |
A |
T |
15: 81,909,835 (GRCm39) |
E238V |
probably damaging |
Het |
|
| Other mutations in Lingo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02335:Lingo1
|
APN |
9 |
56,527,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03093:Lingo1
|
APN |
9 |
56,526,748 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
3-1:Lingo1
|
UTSW |
9 |
56,527,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1840:Lingo1
|
UTSW |
9 |
56,527,842 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1932:Lingo1
|
UTSW |
9 |
56,526,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2475:Lingo1
|
UTSW |
9 |
56,526,910 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3439:Lingo1
|
UTSW |
9 |
56,528,017 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3870:Lingo1
|
UTSW |
9 |
56,527,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4241:Lingo1
|
UTSW |
9 |
56,527,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Lingo1
|
UTSW |
9 |
56,527,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Lingo1
|
UTSW |
9 |
56,527,209 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5451:Lingo1
|
UTSW |
9 |
56,527,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Lingo1
|
UTSW |
9 |
56,526,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6254:Lingo1
|
UTSW |
9 |
56,527,371 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6836:Lingo1
|
UTSW |
9 |
56,527,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6849:Lingo1
|
UTSW |
9 |
56,526,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6935:Lingo1
|
UTSW |
9 |
56,527,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Lingo1
|
UTSW |
9 |
56,527,467 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7116:Lingo1
|
UTSW |
9 |
56,527,911 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7196:Lingo1
|
UTSW |
9 |
56,527,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Lingo1
|
UTSW |
9 |
56,527,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Lingo1
|
UTSW |
9 |
56,528,167 (GRCm39) |
nonsense |
probably null |
|
|
R7804:Lingo1
|
UTSW |
9 |
56,526,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8179:Lingo1
|
UTSW |
9 |
56,527,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8534:Lingo1
|
UTSW |
9 |
56,528,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8684:Lingo1
|
UTSW |
9 |
56,528,106 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9430:Lingo1
|
UTSW |
9 |
56,527,512 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9794:Lingo1
|
UTSW |
9 |
56,528,592 (GRCm39) |
missense |
probably benign |
|
|
X0023:Lingo1
|
UTSW |
9 |
56,527,312 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Lingo1
|
UTSW |
9 |
56,528,226 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2014-01-21 |
Incidental Mutation