Incidental Mutation 'R3439:Lingo1'
| ID |
267319 |
| 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 |
040657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R3439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
56525759-56703752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56528017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 191
(T191A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053568]
[ENSMUST00000114247]
[ENSMUST00000114256]
[ENSMUST00000210032]
|
| AlphaFold |
Q9D1T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053568
AA Change: T191A
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000059050
Gene: ENSMUSG00000049556
AA Change: T191A
| 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 benign
Transcript: ENSMUST00000114247
AA Change: T191A
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109885
Gene: ENSMUSG00000049556
AA Change: T191A
| 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 benign
Transcript: ENSMUST00000114256
AA Change: T197A
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109894
Gene: ENSMUSG00000049556
AA Change: T197A
| 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 benign
Transcript: ENSMUST00000210032
AA Change: T191A
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1085 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (30/30) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
C |
A |
15: 10,381,511 (GRCm39) |
P255Q |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,790,508 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,873,322 (GRCm39) |
Y2458H |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,343,992 (GRCm39) |
T1779A |
probably damaging |
Het |
| Glb1l |
A |
T |
1: 75,179,264 (GRCm39) |
C222S |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
| Helq |
T |
C |
5: 100,946,170 (GRCm39) |
E57G |
probably damaging |
Het |
| Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
| Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Med13 |
T |
C |
11: 86,176,123 (GRCm39) |
D1624G |
probably damaging |
Het |
| Mthfsd |
A |
G |
8: 121,825,860 (GRCm39) |
V218A |
possibly damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,640,615 (GRCm39) |
S314P |
probably benign |
Het |
| Nwd2 |
G |
A |
5: 63,961,895 (GRCm39) |
R493H |
probably benign |
Het |
| Or4f58 |
T |
C |
2: 111,851,792 (GRCm39) |
M136V |
possibly damaging |
Het |
| Or5an11 |
A |
T |
19: 12,245,759 (GRCm39) |
H55L |
possibly damaging |
Het |
| Palm |
C |
T |
10: 79,652,618 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,752 (GRCm39) |
E1115G |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,096,359 (GRCm39) |
F577L |
probably benign |
Het |
| Rnpepl1 |
A |
T |
1: 92,844,662 (GRCm39) |
T385S |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,356,081 (GRCm39) |
I35F |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,365,187 (GRCm39) |
S623N |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,354,700 (GRCm39) |
E1380G |
unknown |
Het |
| Tet2 |
G |
T |
3: 133,172,592 (GRCm39) |
A1890D |
possibly damaging |
Het |
| Tfr2 |
G |
T |
5: 137,572,913 (GRCm39) |
V215F |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vwde |
T |
A |
6: 13,208,374 (GRCm39) |
L169F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCAGGTTGAGGCCGTAGAG -3'
(R):5'- AACCGCCTGAAGCTTATCCC -3'
Sequencing Primer
(F):5'- CCGTAGAGGCAGTTGGGG -3'
(R):5'- TGAAGCTTATCCCGCTGGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation