Incidental Mutation 'IGL02335:Lingo1'
| ID |
289682 |
| 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: 0.228)
|
| Stock # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
56525759-56703752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56527365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 408
(L408P)
|
| 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: L408P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059050
Gene: ENSMUSG00000049556
AA Change: L408P
| 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: L408P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109885
Gene: ENSMUSG00000049556
AA Change: L408P
| 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: L414P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109894
Gene: ENSMUSG00000049556
AA Change: L414P
| 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: L408P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
T |
9: 99,502,266 (GRCm39) |
T142I |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,651,026 (GRCm39) |
M49I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,105,084 (GRCm39) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,685 (GRCm39) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,625,654 (GRCm39) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,755 (GRCm39) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,575,559 (GRCm39) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,365,821 (GRCm39) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,327,165 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,300 (GRCm39) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,478,990 (GRCm39) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,828,704 (GRCm39) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,432,645 (GRCm39) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,111,690 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,604 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,164,988 (GRCm39) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,052,377 (GRCm39) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,167,550 (GRCm39) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,415,941 (GRCm39) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,289,515 (GRCm39) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,059 (GRCm39) |
I572M |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,303,711 (GRCm39) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,573,051 (GRCm39) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,041,962 (GRCm39) |
N57K |
probably benign |
Het |
| Mmrn1 |
A |
T |
6: 60,954,131 (GRCm39) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,564,979 (GRCm39) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,213,648 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
A |
G |
19: 13,727,298 (GRCm39) |
D276G |
probably benign |
Het |
| Or11a4 |
A |
G |
17: 37,536,217 (GRCm39) |
N67S |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,602 (GRCm39) |
I11T |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,666,236 (GRCm39) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,749,286 (GRCm39) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,931,865 (GRCm39) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,006,892 (GRCm39) |
E15G |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,876,453 (GRCm39) |
N526Y |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,108,005 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,476,215 (GRCm39) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,123 (GRCm39) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,000,014 (GRCm39) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,722 (GRCm39) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,615,051 (GRCm39) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,316,463 (GRCm39) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,030,509 (GRCm39) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,691 (GRCm39) |
L34Q |
probably damaging |
Het |
|
| Other mutations in Lingo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01648:Lingo1
|
APN |
9 |
56,527,111 (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 |
2015-04-16 |
Incidental Mutation