Incidental Mutation 'IGL01601:Lgals8'
| ID |
91788 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lgals8
|
| Ensembl Gene |
ENSMUSG00000057554 |
| Gene Name |
lectin, galactose binding, soluble 8 |
| Synonyms |
D13Ertd524e, Lgals-8, 1200015E08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL01601
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
12454296-12479825 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 12471219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099820]
[ENSMUST00000099821]
[ENSMUST00000124888]
[ENSMUST00000135166]
[ENSMUST00000143693]
[ENSMUST00000144283]
|
| AlphaFold |
Q9JL15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099820
|
| SMART Domains |
Protein: ENSMUSP00000097408
Gene: ENSMUSG00000057554
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
16 |
151 |
3.05e-50 |
SMART |
|
Gal-bind_lectin
|
22 |
150 |
7.41e-55 |
SMART |
|
GLECT
|
184 |
316 |
1.38e-48 |
SMART |
|
Gal-bind_lectin
|
190 |
315 |
1.28e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099821
|
| SMART Domains |
Protein: ENSMUSP00000097409
Gene: ENSMUSG00000057554
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
16 |
151 |
3.05e-50 |
SMART |
|
Gal-bind_lectin
|
22 |
150 |
7.41e-55 |
SMART |
|
GLECT
|
184 |
316 |
1.38e-48 |
SMART |
|
Gal-bind_lectin
|
190 |
315 |
1.28e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124888
|
| SMART Domains |
Protein: ENSMUSP00000115094
Gene: ENSMUSG00000057554
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
16 |
151 |
3.05e-50 |
SMART |
|
Gal-bind_lectin
|
22 |
150 |
7.41e-55 |
SMART |
|
GLECT
|
184 |
316 |
1.38e-48 |
SMART |
|
Gal-bind_lectin
|
190 |
315 |
1.28e-49 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135060
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135166
|
| SMART Domains |
Protein: ENSMUSP00000120210
Gene: ENSMUSG00000057554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-bind_lectin
|
1 |
57 |
4e-16 |
PFAM |
|
GLECT
|
91 |
223 |
1.38e-48 |
SMART |
|
Gal-bind_lectin
|
97 |
222 |
1.28e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143693
|
| SMART Domains |
Protein: ENSMUSP00000118925
Gene: ENSMUSG00000057554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-bind_lectin
|
1 |
57 |
4e-16 |
PFAM |
|
GLECT
|
91 |
223 |
1.38e-48 |
SMART |
|
Gal-bind_lectin
|
97 |
222 |
1.28e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144283
|
| SMART Domains |
Protein: ENSMUSP00000114200
Gene: ENSMUSG00000057554
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
16 |
151 |
3.05e-50 |
SMART |
|
Gal-bind_lectin
|
22 |
150 |
7.41e-55 |
SMART |
|
GLECT
|
193 |
325 |
1.38e-48 |
SMART |
|
Gal-bind_lectin
|
199 |
324 |
1.28e-49 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152478
|
| 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 galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced VEGF-C-induced lymphangiogenesis, and ameliorated corneal pathology and lymphangiogenesis in a model of herpes simplex virus keratitis. Mice homozygous for a gene trapped allele exhibit hyperactivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
C |
17: 43,020,940 (GRCm39) |
D628G |
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,568,823 (GRCm39) |
I708N |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,840,555 (GRCm39) |
F985I |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,798,685 (GRCm39) |
W1315R |
probably damaging |
Het |
| Arhgef33 |
C |
A |
17: 80,655,112 (GRCm39) |
Q106K |
probably damaging |
Het |
| Atad5 |
G |
A |
11: 79,986,343 (GRCm39) |
G477S |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,411 (GRCm39) |
I451K |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,754,252 (GRCm39) |
I98N |
probably damaging |
Het |
| Commd1 |
T |
C |
11: 22,849,981 (GRCm39) |
E234G |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,189,528 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
T |
C |
12: 95,746,369 (GRCm39) |
S236P |
probably damaging |
Het |
| Garnl3 |
G |
A |
2: 32,887,701 (GRCm39) |
Q770* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,760,044 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,503,164 (GRCm39) |
D3880E |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,101 (GRCm39) |
V214A |
probably benign |
Het |
| Nat8l |
T |
C |
5: 34,155,809 (GRCm39) |
L155P |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,691,154 (GRCm39) |
S359G |
probably benign |
Het |
| Pex6 |
A |
C |
17: 47,034,650 (GRCm39) |
N785T |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,023,823 (GRCm39) |
C104S |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,000,437 (GRCm39) |
H842Q |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,021 (GRCm39) |
S101T |
probably damaging |
Het |
| Rnf103 |
T |
G |
6: 71,486,167 (GRCm39) |
V266G |
probably damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,296,544 (GRCm39) |
D100G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,872 (GRCm39) |
G1822E |
probably damaging |
Het |
| Tbl3 |
T |
A |
17: 24,921,291 (GRCm39) |
D500V |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,223,047 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,806 (GRCm39) |
R524W |
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,230,038 (GRCm39) |
P829T |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,582,068 (GRCm39) |
N84S |
possibly damaging |
Het |
|
| Other mutations in Lgals8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02407:Lgals8
|
APN |
13 |
12,469,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0015:Lgals8
|
UTSW |
13 |
12,462,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Lgals8
|
UTSW |
13 |
12,462,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Lgals8
|
UTSW |
13 |
12,466,276 (GRCm39) |
splice site |
probably benign |
|
|
R1452:Lgals8
|
UTSW |
13 |
12,468,208 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Lgals8
|
UTSW |
13 |
12,469,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Lgals8
|
UTSW |
13 |
12,474,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2076:Lgals8
|
UTSW |
13 |
12,469,750 (GRCm39) |
nonsense |
probably null |
|
|
R2214:Lgals8
|
UTSW |
13 |
12,469,713 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4568:Lgals8
|
UTSW |
13 |
12,468,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Lgals8
|
UTSW |
13 |
12,468,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5243:Lgals8
|
UTSW |
13 |
12,469,645 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6947:Lgals8
|
UTSW |
13 |
12,469,682 (GRCm39) |
start gained |
probably benign |
|
|
R7476:Lgals8
|
UTSW |
13 |
12,463,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7515:Lgals8
|
UTSW |
13 |
12,463,343 (GRCm39) |
nonsense |
probably null |
|
|
R7942:Lgals8
|
UTSW |
13 |
12,468,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8208:Lgals8
|
UTSW |
13 |
12,468,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8674:Lgals8
|
UTSW |
13 |
12,462,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Lgals8
|
UTSW |
13 |
12,469,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9727:Lgals8
|
UTSW |
13 |
12,462,038 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9785:Lgals8
|
UTSW |
13 |
12,462,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation