Incidental Mutation 'R3805:Lingo4'
| ID |
274539 |
| 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 |
040762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3805 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94306526-94311820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94309407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 115
(D115G)
|
| 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 damaging
Transcript: ENSMUST00000050975
AA Change: D115G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058050
Gene: ENSMUSG00000044505
AA Change: D115G
| 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 |
0.2792 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
| Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
| Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
| Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
| Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
| Ifit1 |
A |
G |
19: 34,625,556 (GRCm39) |
I231V |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Map7d1 |
A |
T |
4: 126,131,084 (GRCm39) |
|
probably null |
Het |
| Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,164,895 (GRCm39) |
T628A |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
| Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
| Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
| Oxtr |
T |
C |
6: 112,454,147 (GRCm39) |
K39R |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
| Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
| Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
| Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
| Tmem184c |
C |
A |
8: 78,323,504 (GRCm39) |
D453Y |
unknown |
Het |
| Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
probably null |
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 |
|
|
R0088:Lingo4
|
UTSW |
3 |
94,309,340 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
|
|
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'- ATCATCTATTCCAGGCCTCAGG -3'
(R):5'- GGACAATCTGATTGAGGCGG -3'
Sequencing Primer
(F):5'- TATTCCAGGCCTCAGGGGATG -3'
(R):5'- CAATCTGATTGAGGCGGAGGTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation