Incidental Mutation 'R5451:Lingo1'
| ID |
434588 |
| 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 |
043016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R5451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
56525759-56703752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 56527711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 293
(I293L)
|
| 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: I293L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059050
Gene: ENSMUSG00000049556
AA Change: I293L
| 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: I293L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109885
Gene: ENSMUSG00000049556
AA Change: I293L
| 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: I299L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109894
Gene: ENSMUSG00000049556
AA Change: I299L
| 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: I293L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.5460 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (52/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,334,076 (GRCm39) |
F1142S |
possibly damaging |
Het |
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Calhm2 |
T |
A |
19: 47,121,314 (GRCm39) |
Y285F |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,330,270 (GRCm39) |
T355A |
probably damaging |
Het |
| Ccnq |
T |
A |
11: 78,642,115 (GRCm39) |
Q125L |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,733,747 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 115,612,873 (GRCm39) |
S3P |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,143,476 (GRCm39) |
G388D |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,589,256 (GRCm39) |
M447T |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,281,179 (GRCm39) |
G2747S |
possibly damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,864,901 (GRCm39) |
S51G |
probably benign |
Het |
| Gabbr2 |
T |
A |
4: 46,684,294 (GRCm39) |
Y660F |
probably benign |
Het |
| Galnt15 |
A |
G |
14: 31,751,868 (GRCm39) |
E140G |
probably benign |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,422,445 (GRCm39) |
L138Q |
probably damaging |
Het |
| Igflr1 |
A |
G |
7: 30,265,747 (GRCm39) |
N57S |
possibly damaging |
Het |
| Ighv13-2 |
A |
G |
12: 114,321,473 (GRCm39) |
F89L |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,928,846 (GRCm39) |
V609A |
probably benign |
Het |
| Jkampl |
A |
G |
6: 73,445,850 (GRCm39) |
V233A |
probably benign |
Het |
| Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
| Lsm2 |
T |
C |
17: 35,201,185 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
T |
A |
15: 79,011,104 (GRCm39) |
|
probably null |
Het |
| Mpp7 |
T |
C |
18: 7,442,855 (GRCm39) |
D156G |
probably null |
Het |
| Mybbp1a |
A |
G |
11: 72,338,939 (GRCm39) |
D822G |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,325,368 (GRCm39) |
V180A |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,409,103 (GRCm39) |
Y159* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,919,221 (GRCm39) |
T1290A |
probably benign |
Het |
| Or12e1 |
T |
A |
2: 87,022,796 (GRCm39) |
V255E |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,902,341 (GRCm39) |
I46V |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 18,946,787 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,440,720 (GRCm39) |
Y1290F |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,827 (GRCm39) |
N132D |
probably benign |
Het |
| Rfx3 |
T |
G |
19: 27,827,359 (GRCm39) |
T76P |
probably damaging |
Het |
| Rps13-ps2 |
G |
T |
7: 88,180,036 (GRCm39) |
|
noncoding transcript |
Het |
| Slc12a3 |
A |
G |
8: 95,083,655 (GRCm39) |
D894G |
possibly damaging |
Het |
| Slc25a15 |
G |
A |
8: 22,879,983 (GRCm39) |
T54I |
probably benign |
Het |
| Slco1c1 |
A |
T |
6: 141,505,604 (GRCm39) |
Q461L |
probably benign |
Het |
| Slfn5 |
T |
G |
11: 82,850,912 (GRCm39) |
I403R |
probably damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,071,571 (GRCm39) |
T318S |
possibly damaging |
Het |
| Tiam2 |
G |
T |
17: 3,479,271 (GRCm39) |
R668M |
probably damaging |
Het |
| Tle7 |
A |
T |
8: 110,836,503 (GRCm39) |
I160F |
probably damaging |
Het |
| Trgj4 |
G |
T |
13: 19,526,335 (GRCm39) |
|
probably benign |
Het |
| Trim9 |
A |
G |
12: 70,393,603 (GRCm39) |
S114P |
probably benign |
Het |
| Trp53i11 |
T |
C |
2: 93,030,200 (GRCm39) |
L169P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r190-ps |
A |
G |
13: 22,328,901 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- AATGGAAGGCTGACTCCTCCAG -3'
(R):5'- GCGGCTACGACATCTCAACATC -3'
Sequencing Primer
(F):5'- TGACTCCTCCAGGGTGGTCAG -3'
(R):5'- CTTCAAGAGGCTGTACCGACTTAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation