Incidental Mutation 'IGL03112:Lgi1'
| ID |
419219 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lgi1
|
| Ensembl Gene |
ENSMUSG00000067242 |
| Gene Name |
leucine-rich repeat LGI family, member 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.740)
|
| Stock # |
IGL03112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
38253135-38297387 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38272478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 116
(H116Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087252]
[ENSMUST00000196090]
[ENSMUST00000197123]
[ENSMUST00000198045]
[ENSMUST00000198518]
[ENSMUST00000199812]
|
| AlphaFold |
Q9JIA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087252
|
| SMART Domains |
Protein: ENSMUSP00000084507
Gene: ENSMUSG00000067242
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
41 |
71 |
9.09e0 |
SMART |
|
LRR
|
90 |
113 |
2.61e2 |
SMART |
|
LRR_TYP
|
114 |
137 |
5.14e-3 |
SMART |
|
LRR_TYP
|
138 |
161 |
2.27e-4 |
SMART |
|
LRRCT
|
173 |
222 |
4.63e-6 |
SMART |
|
Pfam:EPTP
|
225 |
266 |
3.8e-9 |
PFAM |
|
Pfam:EPTP
|
271 |
312 |
6.5e-12 |
PFAM |
|
Pfam:EPTP
|
317 |
363 |
7.2e-16 |
PFAM |
|
Pfam:EPTP
|
366 |
414 |
1.4e-7 |
PFAM |
|
Pfam:EPTP
|
419 |
461 |
1.6e-12 |
PFAM |
|
Pfam:EPTP
|
464 |
505 |
7.7e-11 |
PFAM |
|
Pfam:EPTP
|
510 |
550 |
3.4e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130039
|
| SMART Domains |
Protein: ENSMUSP00000117936
Gene: ENSMUSG00000067242
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
38 |
N/A |
INTRINSIC |
|
LRR
|
51 |
74 |
2.61e2 |
SMART |
|
LRR_TYP
|
75 |
98 |
5.14e-3 |
SMART |
|
LRR_TYP
|
99 |
122 |
2.27e-4 |
SMART |
|
LRRCT
|
131 |
180 |
4.63e-6 |
SMART |
|
Pfam:EPTP
|
182 |
218 |
3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196090
|
| SMART Domains |
Protein: ENSMUSP00000143538
Gene: ENSMUSG00000067242
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
41 |
71 |
4.4e-2 |
SMART |
|
LRR_TYP
|
90 |
113 |
3.3e-4 |
SMART |
|
LRRCT
|
125 |
174 |
2.3e-8 |
SMART |
|
Pfam:EPTP
|
177 |
218 |
3.1e-6 |
PFAM |
|
Pfam:EPTP
|
223 |
264 |
5.3e-9 |
PFAM |
|
Pfam:EPTP
|
269 |
315 |
5.8e-13 |
PFAM |
|
Pfam:EPTP
|
318 |
366 |
1.1e-4 |
PFAM |
|
Pfam:EPTP
|
371 |
413 |
1.3e-9 |
PFAM |
|
Pfam:EPTP
|
416 |
457 |
6.2e-8 |
PFAM |
|
Pfam:EPTP
|
462 |
502 |
2.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197123
|
| SMART Domains |
Protein: ENSMUSP00000142953
Gene: ENSMUSG00000067242
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
41 |
71 |
4.3e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198045
AA Change: H116Q
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143292
Gene: ENSMUSG00000067242
AA Change: H116Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
41 |
71 |
4.3e-2 |
SMART |
|
LRR
|
90 |
113 |
1.1e0 |
SMART |
|
LRR_TYP
|
114 |
137 |
2.1e-5 |
SMART |
|
LRR_TYP
|
138 |
161 |
9.2e-7 |
SMART |
|
LRRCT
|
173 |
222 |
2.3e-8 |
SMART |
|
Pfam:EPTP
|
224 |
267 |
2.8e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198518
AA Change: H116Q
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143128
Gene: ENSMUSG00000067242
AA Change: H116Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
41 |
71 |
9.09e0 |
SMART |
|
LRR
|
90 |
113 |
2.61e2 |
SMART |
|
LRR_TYP
|
114 |
137 |
5.14e-3 |
SMART |
|
LRR_TYP
|
138 |
161 |
2.27e-4 |
SMART |
|
LRRCT
|
173 |
222 |
4.63e-6 |
SMART |
|
Pfam:EPTP
|
224 |
267 |
8.3e-15 |
PFAM |
|
Pfam:EPTP
|
270 |
313 |
9.4e-16 |
PFAM |
|
Pfam:EPTP
|
316 |
364 |
3.3e-18 |
PFAM |
|
Pfam:EPTP
|
365 |
415 |
5.2e-8 |
PFAM |
|
Pfam:EPTP
|
418 |
462 |
1e-16 |
PFAM |
|
Pfam:EPTP
|
463 |
506 |
1.9e-15 |
PFAM |
|
Pfam:EPTP
|
509 |
550 |
2.8e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199812
AA Change: H92Q
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143502
Gene: ENSMUSG00000067242
AA Change: H92Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
41 |
71 |
4.4e-2 |
SMART |
|
LRR_TYP
|
90 |
113 |
2.2e-5 |
SMART |
|
LRR_TYP
|
114 |
137 |
9.4e-7 |
SMART |
|
LRRCT
|
149 |
198 |
2.3e-8 |
SMART |
|
Pfam:EPTP
|
201 |
242 |
3.2e-6 |
PFAM |
|
Pfam:EPTP
|
247 |
288 |
5.6e-9 |
PFAM |
|
Pfam:EPTP
|
293 |
339 |
6.1e-13 |
PFAM |
|
Pfam:EPTP
|
342 |
390 |
1.2e-4 |
PFAM |
|
Pfam:EPTP
|
395 |
437 |
1.4e-9 |
PFAM |
|
Pfam:EPTP
|
440 |
481 |
6.6e-8 |
PFAM |
|
Pfam:EPTP
|
486 |
526 |
2.9e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, seizures, and death by the third week of life. Mice heterozygous for this allele exhibit increased suseptibility to pentylenetetrazole-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
C |
8: 43,974,549 (GRCm39) |
N151S |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,755,029 (GRCm39) |
|
probably null |
Het |
| Apol11a |
T |
A |
15: 77,401,509 (GRCm39) |
L332Q |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,623,834 (GRCm39) |
S45L |
probably benign |
Het |
| Cend1 |
G |
A |
7: 141,007,640 (GRCm39) |
T60M |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,739,242 (GRCm39) |
E329* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,249,435 (GRCm39) |
R266G |
possibly damaging |
Het |
| Defb48 |
C |
T |
14: 63,221,854 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
T |
G |
7: 140,941,649 (GRCm39) |
L640R |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,090,570 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,801,580 (GRCm39) |
V514M |
possibly damaging |
Het |
| Fbxo25 |
A |
T |
8: 13,971,034 (GRCm39) |
D74V |
probably benign |
Het |
| Gm11733 |
A |
G |
11: 117,377,966 (GRCm39) |
*126W |
probably null |
Het |
| Grm8 |
C |
T |
6: 27,363,262 (GRCm39) |
C751Y |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,853 (GRCm39) |
D147V |
probably benign |
Het |
| Lclat1 |
A |
T |
17: 73,546,742 (GRCm39) |
T220S |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Lsm4 |
T |
A |
8: 71,130,656 (GRCm39) |
I60N |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,177,601 (GRCm39) |
Y178N |
probably damaging |
Het |
| Mybl2 |
A |
G |
2: 162,904,456 (GRCm39) |
E89G |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,856 (GRCm39) |
E512G |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,639,311 (GRCm39) |
S583T |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,450,914 (GRCm39) |
I106V |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,036,412 (GRCm39) |
D338E |
possibly damaging |
Het |
| Or10ag52 |
T |
A |
2: 87,043,944 (GRCm39) |
I236N |
probably damaging |
Het |
| Or4a76 |
G |
A |
2: 89,460,678 (GRCm39) |
T188I |
probably benign |
Het |
| Or6c1 |
A |
G |
10: 129,517,792 (GRCm39) |
V272A |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,615,044 (GRCm39) |
Q508K |
probably benign |
Het |
| S100b |
A |
G |
10: 76,095,808 (GRCm39) |
D62G |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,221,557 (GRCm39) |
H119R |
probably damaging |
Het |
| Sez6l |
T |
A |
5: 112,621,333 (GRCm39) |
E247V |
probably damaging |
Het |
| Shoc1 |
G |
T |
4: 59,049,355 (GRCm39) |
Q1069K |
probably benign |
Het |
| Shq1 |
C |
A |
6: 100,550,574 (GRCm39) |
E455* |
probably null |
Het |
| Slc9b1 |
T |
A |
3: 135,103,433 (GRCm39) |
M521K |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,413,855 (GRCm39) |
F543L |
probably damaging |
Het |
| Tcf25 |
T |
C |
8: 124,109,258 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
C |
A |
4: 137,335,375 (GRCm39) |
Q183K |
probably damaging |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,086 (GRCm39) |
G45S |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,368 (GRCm39) |
Y30* |
probably null |
Het |
|
| Other mutations in Lgi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02882:Lgi1
|
APN |
19 |
38,272,453 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0201:Lgi1
|
UTSW |
19 |
38,289,741 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1573:Lgi1
|
UTSW |
19 |
38,272,629 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1795:Lgi1
|
UTSW |
19 |
38,294,631 (GRCm39) |
missense |
probably benign |
|
|
R2010:Lgi1
|
UTSW |
19 |
38,289,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Lgi1
|
UTSW |
19 |
38,294,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Lgi1
|
UTSW |
19 |
38,294,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3733:Lgi1
|
UTSW |
19 |
38,294,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:Lgi1
|
UTSW |
19 |
38,289,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Lgi1
|
UTSW |
19 |
38,289,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Lgi1
|
UTSW |
19 |
38,289,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4857:Lgi1
|
UTSW |
19 |
38,294,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:Lgi1
|
UTSW |
19 |
38,294,629 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6180:Lgi1
|
UTSW |
19 |
38,253,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6196:Lgi1
|
UTSW |
19 |
38,294,257 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6847:Lgi1
|
UTSW |
19 |
38,289,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Lgi1
|
UTSW |
19 |
38,294,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7376:Lgi1
|
UTSW |
19 |
38,272,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Lgi1
|
UTSW |
19 |
38,289,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Lgi1
|
UTSW |
19 |
38,289,296 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8899:Lgi1
|
UTSW |
19 |
38,294,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Lgi1
|
UTSW |
19 |
38,294,095 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9156:Lgi1
|
UTSW |
19 |
38,289,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9484:Lgi1
|
UTSW |
19 |
38,294,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation