Incidental Mutation 'R5600:Lingo4'
| ID |
438973 |
| 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 |
043152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5600 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94306526-94311820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94309220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 53
(I53F)
|
| 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: I53F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058050
Gene: ENSMUSG00000044505
AA Change: I53F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol11b |
A |
C |
15: 77,519,288 (GRCm39) |
M264R |
probably damaging |
Het |
| Asprv1 |
G |
T |
6: 86,606,044 (GRCm39) |
E297* |
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,687,107 (GRCm39) |
V234A |
probably benign |
Het |
| Ccp110 |
G |
A |
7: 118,328,948 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,168 (GRCm39) |
C173R |
probably damaging |
Het |
| Gm5431 |
G |
A |
11: 48,785,583 (GRCm39) |
T264M |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,910,111 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,832,046 (GRCm39) |
T1049A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,766,576 (GRCm39) |
|
probably null |
Het |
| Krt86 |
G |
A |
15: 101,374,386 (GRCm39) |
V260I |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,927,490 (GRCm39) |
Q548L |
probably damaging |
Het |
| Lrrk1 |
A |
C |
7: 65,956,963 (GRCm39) |
I336S |
probably benign |
Het |
| Magel2 |
G |
T |
7: 62,029,514 (GRCm39) |
G806V |
unknown |
Het |
| Mrc2 |
T |
A |
11: 105,224,492 (GRCm39) |
S501T |
probably damaging |
Het |
| Mrps18a |
T |
A |
17: 46,436,575 (GRCm39) |
L128* |
probably null |
Het |
| Mtor |
G |
T |
4: 148,575,927 (GRCm39) |
L1360F |
probably damaging |
Het |
| Mtpap |
A |
G |
18: 4,379,674 (GRCm39) |
E88G |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,436 (GRCm39) |
K1294R |
probably benign |
Het |
| Or10al2 |
G |
A |
17: 37,983,176 (GRCm39) |
M87I |
possibly damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,444,346 (GRCm39) |
V520M |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,458,918 (GRCm39) |
V305E |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,963,566 (GRCm39) |
D682G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,599,157 (GRCm39) |
Q538L |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,415 (GRCm39) |
R283H |
probably damaging |
Het |
| Sfswap |
T |
C |
5: 129,590,222 (GRCm39) |
F240L |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,927,503 (GRCm39) |
H101L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,767,107 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,151,778 (GRCm39) |
T986A |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,188,101 (GRCm39) |
S496T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,054,541 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
G |
T |
16: 89,662,253 (GRCm39) |
R622S |
probably damaging |
Het |
| Vmn2r109 |
C |
A |
17: 20,761,189 (GRCm39) |
D723Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,212,935 (GRCm39) |
Q491K |
probably benign |
Het |
| Wnk1 |
A |
C |
6: 119,926,319 (GRCm39) |
S1297R |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,385,233 (GRCm39) |
V5067I |
unknown |
Het |
| Zfp108 |
A |
G |
7: 23,960,011 (GRCm39) |
S201G |
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 |
|
|
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 |
|
|
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 |
|
|
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'- CCTTTAAGGAGGTTCGGTGCAG -3'
(R):5'- ACTTTGTAGGCCATGGAAAGC -3'
Sequencing Primer
(F):5'- AGTGCAGGGTCACCACCATC -3'
(R):5'- TTCTTGGAGCTGGCCCAGTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation