Incidental Mutation 'R0015:Lgals8'
ID |
8270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lgals8
|
Ensembl Gene |
ENSMUSG00000057554 |
Gene Name |
lectin, galactose binding, soluble 8 |
Synonyms |
D13Ertd524e, Lgals-8, 1200015E08Rik |
MMRRC Submission |
038310-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R0015 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
12454296-12479825 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12462179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 226
(L226P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099820]
[ENSMUST00000099821]
[ENSMUST00000124888]
[ENSMUST00000135166]
[ENSMUST00000143693]
[ENSMUST00000144283]
|
AlphaFold |
Q9JL15 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099820
AA Change: L217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097408 Gene: ENSMUSG00000057554 AA Change: L217P
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 damaging
Transcript: ENSMUST00000099821
AA Change: L217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097409 Gene: ENSMUSG00000057554 AA Change: L217P
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 damaging
Transcript: ENSMUST00000124888
AA Change: L217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115094 Gene: ENSMUSG00000057554 AA Change: L217P
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: ENSMUST00000133143
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135166
AA Change: L124P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120210 Gene: ENSMUSG00000057554 AA Change: L124P
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 damaging
Transcript: ENSMUST00000143693
AA Change: L124P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118925 Gene: ENSMUSG00000057554 AA Change: L124P
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 damaging
Transcript: ENSMUST00000144283
AA Change: L226P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114200 Gene: ENSMUSG00000057554 AA Change: L226P
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
|
Meta Mutation Damage Score |
0.9331 |
Coding Region Coverage |
- 1x: 80.5%
- 3x: 72.2%
- 10x: 49.0%
- 20x: 28.4%
|
Validation Efficiency |
90% (88/98) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130050O07Rik |
A |
G |
1: 137,856,394 (GRCm39) |
Y23C |
unknown |
Het |
Aadat |
C |
T |
8: 60,987,605 (GRCm39) |
|
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,245,260 (GRCm39) |
|
probably null |
Het |
Armc3 |
A |
G |
2: 19,301,132 (GRCm39) |
|
probably null |
Het |
Astn2 |
T |
G |
4: 66,184,619 (GRCm39) |
|
probably null |
Het |
Borcs8 |
T |
C |
8: 70,593,017 (GRCm39) |
|
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,836,928 (GRCm39) |
T804I |
probably benign |
Het |
Card19 |
A |
G |
13: 49,361,532 (GRCm39) |
L33P |
probably benign |
Het |
Ccny |
A |
C |
18: 9,316,682 (GRCm39) |
|
probably benign |
Het |
Cdh5 |
C |
T |
8: 104,867,559 (GRCm39) |
T612I |
probably benign |
Het |
Cfap58 |
A |
G |
19: 48,017,539 (GRCm39) |
M800V |
probably benign |
Het |
Clrn1 |
A |
T |
3: 58,753,848 (GRCm39) |
I171K |
probably damaging |
Het |
Cnp |
T |
A |
11: 100,469,734 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
C |
9: 79,558,667 (GRCm39) |
T1933A |
probably damaging |
Het |
Cplane1 |
G |
A |
15: 8,215,668 (GRCm39) |
R408H |
probably damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,454,666 (GRCm39) |
S660G |
probably benign |
Het |
Dync1i2 |
C |
A |
2: 71,044,828 (GRCm39) |
R13S |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,036,652 (GRCm39) |
S3435T |
probably damaging |
Het |
Fchsd1 |
A |
G |
18: 38,096,012 (GRCm39) |
C533R |
probably benign |
Het |
Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
Gria2 |
C |
T |
3: 80,615,074 (GRCm39) |
G469S |
probably damaging |
Het |
Hsf5 |
C |
A |
11: 87,548,161 (GRCm39) |
H615N |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,140,113 (GRCm39) |
T240A |
probably damaging |
Het |
Kcnn3 |
A |
C |
3: 89,570,080 (GRCm39) |
D631A |
probably damaging |
Het |
Lama4 |
C |
T |
10: 38,951,432 (GRCm39) |
T1059M |
possibly damaging |
Het |
Lonp1 |
T |
A |
17: 56,925,406 (GRCm39) |
Q462L |
probably benign |
Het |
Mark2 |
A |
T |
19: 7,263,142 (GRCm39) |
Y231* |
probably null |
Het |
Mdh1b |
T |
C |
1: 63,760,959 (GRCm39) |
|
probably benign |
Het |
Myh7b |
C |
T |
2: 155,464,206 (GRCm39) |
P569L |
probably damaging |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Ncapd3 |
C |
A |
9: 26,963,105 (GRCm39) |
A470E |
probably damaging |
Het |
Ndrg2 |
A |
G |
14: 52,147,902 (GRCm39) |
|
probably benign |
Het |
Nprl2 |
A |
T |
9: 107,421,618 (GRCm39) |
I209F |
probably damaging |
Het |
Pcf11 |
T |
A |
7: 92,307,525 (GRCm39) |
H881L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,196,029 (GRCm39) |
D640G |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,705,547 (GRCm39) |
|
probably benign |
Het |
Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
Pter |
G |
A |
2: 13,005,811 (GRCm39) |
G328D |
probably damaging |
Het |
Rad51 |
T |
A |
2: 118,946,808 (GRCm39) |
M5K |
probably benign |
Het |
Rbm43 |
T |
A |
2: 51,815,679 (GRCm39) |
I181F |
probably benign |
Het |
Rgs12 |
T |
C |
5: 35,180,120 (GRCm39) |
|
probably benign |
Het |
Slc20a2 |
C |
A |
8: 23,025,361 (GRCm39) |
A21E |
probably damaging |
Het |
Sybu |
T |
C |
15: 44,536,896 (GRCm39) |
R349G |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,533 (GRCm39) |
|
probably null |
Het |
Xirp2 |
C |
A |
2: 67,341,243 (GRCm39) |
Y1161* |
probably null |
Het |
Zfand4 |
C |
A |
6: 116,305,258 (GRCm39) |
T705K |
probably damaging |
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 |
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 |
2012-11-21 |