Incidental Mutation 'R0088:Lingo4'
| ID |
19994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lingo4
|
| Ensembl Gene |
ENSMUSG00000044505 |
| Gene Name |
leucine rich repeat and Ig domain containing 4 |
| Synonyms |
LERN4, Lrrn6d, A530050P17Rik |
| MMRRC Submission |
038375-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
94306526-94311820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94309340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 93
(S93G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029795]
[ENSMUST00000050975]
[ENSMUST00000197040]
[ENSMUST00000200009]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029795
|
| SMART Domains |
Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
28 |
99 |
7.2e-37 |
SMART |
|
low complexity region
|
116 |
133 |
N/A |
INTRINSIC |
|
HOLI
|
320 |
474 |
3.78e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050975
AA Change: S93G
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000058050
Gene: ENSMUSG00000044505
AA Change: S93G
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
55 |
89 |
1.23e-4 |
SMART |
|
LRR
|
88 |
107 |
2.76e2 |
SMART |
|
LRR_TYP
|
108 |
131 |
1.02e-6 |
SMART |
|
LRR_TYP
|
132 |
155 |
7.26e-3 |
SMART |
|
LRR
|
156 |
179 |
1.33e1 |
SMART |
|
LRR_TYP
|
180 |
203 |
5.42e-2 |
SMART |
|
LRR
|
204 |
227 |
4.45e1 |
SMART |
|
LRR
|
228 |
251 |
3.27e1 |
SMART |
|
LRR
|
300 |
323 |
4.83e0 |
SMART |
|
LRR
|
324 |
347 |
3.07e-1 |
SMART |
|
LRR
|
348 |
371 |
3.36e1 |
SMART |
|
LRRCT
|
383 |
436 |
5.24e-5 |
SMART |
|
IGc2
|
451 |
516 |
3.53e-13 |
SMART |
|
transmembrane domain
|
560 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197040
|
| SMART Domains |
Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
7 |
78 |
7.2e-37 |
SMART |
|
low complexity region
|
95 |
112 |
N/A |
INTRINSIC |
|
HOLI
|
299 |
453 |
3.78e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200009
|
| SMART Domains |
Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
13 |
84 |
7.2e-37 |
SMART |
|
low complexity region
|
101 |
118 |
N/A |
INTRINSIC |
|
PDB:3L0L|B
|
243 |
309 |
1e-22 |
PDB |
|
| Meta Mutation Damage Score |
0.3800 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
82% (32/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
| Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
| Bnc1 |
T |
G |
7: 81,628,246 (GRCm39) |
N39T |
possibly damaging |
Het |
| Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,307,741 (GRCm39) |
E5G |
probably damaging |
Het |
| Eqtn |
T |
C |
4: 94,808,227 (GRCm39) |
T192A |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
| Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
| Kif2a |
G |
A |
13: 107,111,940 (GRCm39) |
A478V |
probably damaging |
Het |
| Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
| Ndel1 |
A |
C |
11: 68,724,246 (GRCm39) |
S242R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
| Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
| Pklr |
A |
G |
3: 89,049,215 (GRCm39) |
Y187C |
probably damaging |
Het |
| Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
| Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
| Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
| Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttyh2 |
G |
T |
11: 114,581,081 (GRCm39) |
G107C |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,904,199 (GRCm39) |
D540G |
probably benign |
Het |
|
| Other mutations in Lingo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01074:Lingo4
|
APN |
3 |
94,310,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02662:Lingo4
|
APN |
3 |
94,309,124 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02687:Lingo4
|
APN |
3 |
94,309,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02711:Lingo4
|
APN |
3 |
94,310,700 (GRCm39) |
missense |
probably benign |
|
|
IGL03001:Lingo4
|
APN |
3 |
94,309,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03260:Lingo4
|
APN |
3 |
94,309,250 (GRCm39) |
missense |
probably benign |
|
|
PIT4449001:Lingo4
|
UTSW |
3 |
94,309,239 (GRCm39) |
missense |
probably benign |
|
|
R0616:Lingo4
|
UTSW |
3 |
94,310,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1455:Lingo4
|
UTSW |
3 |
94,306,699 (GRCm39) |
unclassified |
probably benign |
|
|
R1733:Lingo4
|
UTSW |
3 |
94,310,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2001:Lingo4
|
UTSW |
3 |
94,310,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Lingo4
|
UTSW |
3 |
94,309,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Lingo4
|
UTSW |
3 |
94,309,685 (GRCm39) |
missense |
probably benign |
|
|
R3805:Lingo4
|
UTSW |
3 |
94,309,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Lingo4
|
UTSW |
3 |
94,309,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Lingo4
|
UTSW |
3 |
94,310,204 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4660:Lingo4
|
UTSW |
3 |
94,310,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4724:Lingo4
|
UTSW |
3 |
94,310,183 (GRCm39) |
nonsense |
probably null |
|
|
R4981:Lingo4
|
UTSW |
3 |
94,306,761 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4994:Lingo4
|
UTSW |
3 |
94,310,308 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4994:Lingo4
|
UTSW |
3 |
94,309,848 (GRCm39) |
missense |
probably benign |
|
|
R5600:Lingo4
|
UTSW |
3 |
94,309,220 (GRCm39) |
missense |
probably benign |
|
|
R6188:Lingo4
|
UTSW |
3 |
94,310,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Lingo4
|
UTSW |
3 |
94,310,697 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6303:Lingo4
|
UTSW |
3 |
94,310,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Lingo4
|
UTSW |
3 |
94,310,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6789:Lingo4
|
UTSW |
3 |
94,306,662 (GRCm39) |
unclassified |
probably benign |
|
|
R7313:Lingo4
|
UTSW |
3 |
94,310,451 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7329:Lingo4
|
UTSW |
3 |
94,310,162 (GRCm39) |
missense |
probably benign |
|
|
R7631:Lingo4
|
UTSW |
3 |
94,306,767 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7908:Lingo4
|
UTSW |
3 |
94,309,541 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8277:Lingo4
|
UTSW |
3 |
94,309,931 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8848:Lingo4
|
UTSW |
3 |
94,310,840 (GRCm39) |
missense |
probably benign |
|
|
R9257:Lingo4
|
UTSW |
3 |
94,310,676 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9753:Lingo4
|
UTSW |
3 |
94,309,493 (GRCm39) |
nonsense |
probably null |
|
|
X0054:Lingo4
|
UTSW |
3 |
94,310,683 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Z1177:Lingo4
|
UTSW |
3 |
94,310,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGCCACACTTACTGGCAAG -3'
(R):5'- ACAATCTGATTGAGGCGGAGGTCC -3'
Sequencing Primer
(F):5'- GAGACCATGTCATCATCTATTCCAGG -3'
(R):5'- GGCCTGAGAATATCCCAGGAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation