Incidental Mutation 'PIT4449001:Lingo4'
ID |
555724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lingo4
|
Ensembl Gene |
ENSMUSG00000044505 |
Gene Name |
leucine rich repeat and Ig domain containing 4 |
Synonyms |
LERN4, Lrrn6d, A530050P17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
PIT4449001 (G1)
|
Quality Score |
158.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94306526-94311820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94309239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
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: V59A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000058050 Gene: ENSMUSG00000044505 AA Change: V59A
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 |
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: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
Cfap91 |
T |
C |
16: 38,148,720 (GRCm39) |
E236G |
probably damaging |
Het |
Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
Cyp2j7 |
G |
T |
4: 96,103,575 (GRCm39) |
T320K |
probably damaging |
Het |
Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
Dhx15 |
A |
G |
5: 52,318,300 (GRCm39) |
V510A |
probably damaging |
Het |
Dpp4 |
T |
A |
2: 62,186,988 (GRCm39) |
K507N |
probably benign |
Het |
Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
Gipr |
C |
T |
7: 18,894,543 (GRCm39) |
R253H |
probably benign |
Het |
Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
Mroh8 |
T |
A |
2: 157,067,454 (GRCm39) |
Q635L |
probably damaging |
Het |
Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
Tbrg4 |
T |
C |
11: 6,569,689 (GRCm39) |
Q309R |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
Tufm |
T |
C |
7: 126,086,621 (GRCm39) |
M1T |
probably null |
Het |
Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
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 |
|
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 |
|
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'- AGGGTCACCACCATCTGAAG -3'
(R):5'- TGAGTAGACTTTGTAGGCCATG -3'
Sequencing Primer
(F):5'- TCTGAAGCCACTTTTCAAAAGAGAC -3'
(R):5'- CTTTGTAGGCCATGGAAAGC -3'
|
Posted On |
2019-06-07 |