Incidental Mutation 'R7942:Lgals8'
| ID |
649117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgals8
|
| Ensembl Gene |
ENSMUSG00000057554 |
| Gene Name |
lectin, galactose binding, soluble 8 |
| Synonyms |
D13Ertd524e, Lgals-8, 1200015E08Rik |
| MMRRC Submission |
045988-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
12454296-12479825 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 12468137 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 |
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 null
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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,027 (GRCm39) |
I565T |
probably damaging |
Het |
| Adamts8 |
G |
A |
9: 30,864,778 (GRCm39) |
C423Y |
probably damaging |
Het |
| Adamts8 |
G |
A |
9: 30,870,209 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
C |
1: 179,613,660 (GRCm39) |
V490G |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,261,218 (GRCm39) |
T478A |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,683,989 (GRCm39) |
S559G |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,376,590 (GRCm39) |
T924A |
probably damaging |
Het |
| Atp13a1 |
A |
G |
8: 70,259,870 (GRCm39) |
E1126G |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,900,382 (GRCm39) |
V617A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cldnd1 |
A |
T |
16: 58,550,078 (GRCm39) |
N87I |
possibly damaging |
Het |
| Enpp2 |
A |
T |
15: 54,709,275 (GRCm39) |
V784E |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,507,575 (GRCm39) |
Y51F |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,741,595 (GRCm39) |
K212R |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,254,706 (GRCm39) |
C186G |
possibly damaging |
Het |
| Fsip1 |
G |
A |
2: 117,967,092 (GRCm39) |
T411I |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,836,785 (GRCm39) |
T460A |
probably benign |
Het |
| Gm19410 |
G |
A |
8: 36,238,940 (GRCm39) |
G70R |
probably damaging |
Het |
| Gna15 |
G |
A |
10: 81,359,745 (GRCm39) |
T15I |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,571,570 (GRCm39) |
C1198R |
probably damaging |
Het |
| Hoxd1 |
A |
G |
2: 74,594,504 (GRCm39) |
Y253C |
probably damaging |
Het |
| Il17re |
G |
T |
6: 113,443,111 (GRCm39) |
Q316H |
probably damaging |
Het |
| Jakmip1 |
C |
A |
5: 37,331,182 (GRCm39) |
P621T |
probably benign |
Het |
| Krt71 |
T |
C |
15: 101,643,894 (GRCm39) |
Y448C |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,409,505 (GRCm39) |
*401W |
probably null |
Het |
| Mctp1 |
A |
T |
13: 76,789,829 (GRCm39) |
|
probably null |
Het |
| Mms19 |
C |
A |
19: 41,944,400 (GRCm39) |
V310F |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,392,674 (GRCm39) |
F3296I |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,146,422 (GRCm39) |
I121N |
probably damaging |
Het |
| Nr0b2 |
T |
C |
4: 133,280,847 (GRCm39) |
S38P |
probably benign |
Het |
| Nudt16l1 |
T |
A |
16: 4,757,243 (GRCm39) |
M52K |
probably benign |
Het |
| Or3a4 |
A |
G |
11: 73,945,054 (GRCm39) |
I177T |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,566 (GRCm39) |
N229S |
probably benign |
Het |
| Polr3gl |
A |
T |
3: 96,489,552 (GRCm39) |
|
probably null |
Het |
| Ptch2 |
T |
A |
4: 116,963,198 (GRCm39) |
F228L |
probably benign |
Het |
| Slc35d1 |
A |
G |
4: 103,070,360 (GRCm39) |
|
probably null |
Het |
| Slc41a1 |
G |
A |
1: 131,768,635 (GRCm39) |
V198I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,709 (GRCm39) |
D527G |
possibly damaging |
Het |
| Spaca7b |
A |
G |
8: 11,705,615 (GRCm39) |
I164T |
unknown |
Het |
| Spag16 |
G |
T |
1: 69,866,247 (GRCm39) |
A29S |
probably benign |
Het |
| Speer4f2 |
T |
A |
5: 17,582,630 (GRCm39) |
D284E |
unknown |
Het |
| Sspo |
A |
G |
6: 48,465,434 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,517 (GRCm39) |
K89R |
possibly damaging |
Het |
| Tek |
C |
T |
4: 94,740,111 (GRCm39) |
|
probably null |
Het |
| Tet3 |
C |
T |
6: 83,353,956 (GRCm39) |
V902M |
probably damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,810,928 (GRCm39) |
V590M |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,499 (GRCm39) |
V357A |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,041,203 (GRCm39) |
V133A |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,613,322 (GRCm39) |
W305R |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,529 (GRCm39) |
L314I |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,061 (GRCm39) |
A178V |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,577,754 (GRCm39) |
S1120P |
probably benign |
Het |
| Zfp57 |
T |
C |
17: 37,320,566 (GRCm39) |
F140S |
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 |
|
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 |
|
|
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'- CAGAGATATTTACTCCCTCCCAGG -3'
(R):5'- AGACACTTCCGTTGGATAAGGAG -3'
Sequencing Primer
(F):5'- GGACAGGAGATACACATTAGCCATC -3'
(R):5'- TGTGTCACCGGGCTCTGAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation