Incidental Mutation 'R2214:Lgals8'
| ID |
241036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgals8
|
| Ensembl Gene |
ENSMUSG00000057554 |
| Gene Name |
lectin, galactose binding, soluble 8 |
| Synonyms |
D13Ertd524e, Lgals-8, 1200015E08Rik |
| MMRRC Submission |
040216-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2214 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
12454296-12479825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12469713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 82
(Q82L)
|
| 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
AA Change: Q82L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097408
Gene: ENSMUSG00000057554
AA Change: Q82L
| 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
AA Change: Q82L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097409
Gene: ENSMUSG00000057554
AA Change: Q82L
| 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
AA Change: Q82L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115094
Gene: ENSMUSG00000057554
AA Change: Q82L
| 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
AA Change: Q82L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000114200
Gene: ENSMUSG00000057554
AA Change: Q82L
| 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: ENSMUST00000152478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155871
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
| Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
| Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
| Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,048,047 (GRCm39) |
D781G |
possibly damaging |
Het |
| Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
| Ercc4 |
C |
A |
16: 12,927,888 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
| Kat7 |
G |
A |
11: 95,166,631 (GRCm39) |
T517I |
probably damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
| Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
| Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
| Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
| Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,648,344 (GRCm39) |
M384K |
possibly damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
| Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,299,528 (GRCm39) |
S849L |
possibly damaging |
Het |
| Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,139,300 (GRCm39) |
F90L |
possibly damaging |
Het |
| Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
| Upp1 |
T |
A |
11: 9,086,033 (GRCm39) |
V290E |
probably benign |
Het |
| Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
| Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGGTCCAGAATTTAGCG -3'
(R):5'- GGTGCTTGTACTTTCCCCATGG -3'
Sequencing Primer
(F):5'- GTCCAGAATTTAGCGCTCCTAGAAG -3'
(R):5'- ATGGCTCACCTCCACAGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation