Incidental Mutation 'R6947:Lgals8'
| ID |
540939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgals8
|
| Ensembl Gene |
ENSMUSG00000057554 |
| Gene Name |
lectin, galactose binding, soluble 8 |
| Synonyms |
D13Ertd524e, Lgals-8, 1200015E08Rik |
| MMRRC Submission |
045060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6947 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
12454296-12479825 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 12469682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099820]
[ENSMUST00000099821]
[ENSMUST00000124888]
[ENSMUST00000135166]
[ENSMUST00000143693]
[ENSMUST00000144283]
|
| AlphaFold |
Q9JL15 |
| Predicted Effect |
silent
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 |
silent
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 |
silent
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 |
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 |
silent
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
| Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
| Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,568,884 (GRCm39) |
I227N |
probably damaging |
Het |
| Eif2d |
T |
C |
1: 131,092,404 (GRCm39) |
V354A |
probably benign |
Het |
| Fgr |
T |
A |
4: 132,722,380 (GRCm39) |
|
probably null |
Het |
| Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
| Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
| Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
| Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,759,383 (GRCm39) |
F548Y |
probably damaging |
Het |
| Rad54b |
T |
G |
4: 11,569,859 (GRCm39) |
S58R |
possibly damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,041,875 (GRCm39) |
L444P |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,147,044 (GRCm39) |
Q358L |
probably null |
Het |
| Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
| Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
| Usp30 |
T |
C |
5: 114,241,821 (GRCm39) |
S88P |
probably benign |
Het |
| Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
probably benign |
Het |
|
| Other mutations in Lgals8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01601:Lgals8
|
APN |
13 |
12,471,219 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGTGACACGATGCTGTGG -3'
(R):5'- AGGCTCACATGGTTCTGTTCTG -3'
Sequencing Primer
(F):5'- GTCCAGAATTTAGCGCTCCTAGAAG -3'
(R):5'- ACATGGTTCTGTTCTGCCCTCG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation