Incidental Mutation 'R4241:Lingo1'
| ID |
320218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lingo1
|
| Ensembl Gene |
ENSMUSG00000049556 |
| Gene Name |
leucine rich repeat and Ig domain containing 1 |
| Synonyms |
UNQ201, 4930471K13Rik, Lrrn6a, LINGO-1, LERN1 |
| MMRRC Submission |
041058-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R4241 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
56525759-56703752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56527386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 401
(F401S)
|
| 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: F401S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059050
Gene: ENSMUSG00000049556
AA Change: F401S
| 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: F401S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109885
Gene: ENSMUSG00000049556
AA Change: F401S
| 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: F407S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109894
Gene: ENSMUSG00000049556
AA Change: F407S
| 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: F401S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.8708 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,548,497 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
C |
T |
19: 5,618,825 (GRCm39) |
L82F |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,500,912 (GRCm39) |
S1113P |
probably damaging |
Het |
| Atoh1 |
A |
C |
6: 64,706,758 (GRCm39) |
N151T |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,361,652 (GRCm39) |
S25R |
probably damaging |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Btbd6 |
C |
T |
12: 112,940,416 (GRCm39) |
A13V |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 89,896,346 (GRCm39) |
N74K |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,849,165 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col16a1 |
G |
T |
4: 129,992,843 (GRCm39) |
Q1567H |
probably damaging |
Het |
| Coq6 |
A |
T |
12: 84,420,563 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,611 (GRCm39) |
D61G |
probably benign |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,663,787 (GRCm39) |
|
noncoding transcript |
Het |
| Dbt |
T |
C |
3: 116,326,945 (GRCm39) |
I98T |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,126,086 (GRCm39) |
T287I |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,760 (GRCm39) |
S1575G |
probably damaging |
Het |
| Gm7135 |
A |
G |
1: 97,281,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
A |
T |
2: 118,110,091 (GRCm39) |
S389R |
probably benign |
Het |
| Hax1 |
A |
G |
3: 89,902,997 (GRCm39) |
S257P |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kynu |
A |
T |
2: 43,571,422 (GRCm39) |
H446L |
probably benign |
Het |
| Lmbrd1 |
C |
T |
1: 24,732,049 (GRCm39) |
Q89* |
probably null |
Het |
| Mov10 |
T |
A |
3: 104,704,592 (GRCm39) |
Q773L |
probably benign |
Het |
| Or52e19 |
G |
T |
7: 102,959,868 (GRCm39) |
*313Y |
probably null |
Het |
| Or7c70 |
T |
A |
10: 78,683,739 (GRCm39) |
R3S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,982,426 (GRCm39) |
H413R |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Slc10a5 |
A |
G |
3: 10,400,520 (GRCm39) |
S47P |
probably damaging |
Het |
| Sprr3 |
A |
G |
3: 92,364,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,999,361 (GRCm39) |
Q8K |
unknown |
Het |
| Ubfd1 |
T |
C |
7: 121,670,977 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,867 (GRCm39) |
D529G |
possibly damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,652,298 (GRCm39) |
I154F |
probably damaging |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,351,210 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
G |
15: 12,149,745 (GRCm39) |
D388E |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,702,075 (GRCm39) |
I219V |
probably benign |
Het |
| Zmat5 |
A |
G |
11: 4,678,614 (GRCm39) |
N53D |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCAGGGAAGACTGTGAGC -3'
(R):5'- TGCTCAATGTCTCTGGCAACC -3'
Sequencing Primer
(F):5'- ATTGCTCTTGGCCGAGAC -3'
(R):5'- CTGGCAACCAGCTGACC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation