Incidental Mutation 'IGL03288:Lgals9'
| ID |
415774 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lgals9
|
| Ensembl Gene |
ENSMUSG00000001123 |
| Gene Name |
lectin, galactose binding, soluble 9 |
| Synonyms |
LGALS35, gal-9, Lgals5, galectin-9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL03288
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78853805-78875750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78875626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 6
(A6V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073001]
[ENSMUST00000108268]
[ENSMUST00000108269]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073001
AA Change: A6V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000072764
Gene: ENSMUSG00000001123
AA Change: A6V
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
15 |
147 |
6.58e-55 |
SMART |
|
Gal-bind_lectin
|
21 |
146 |
5.24e-55 |
SMART |
|
GLECT
|
222 |
352 |
5.38e-60 |
SMART |
|
Gal-bind_lectin
|
228 |
352 |
1.33e-65 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108268
AA Change: A6V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103903
Gene: ENSMUSG00000001123
AA Change: A6V
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
15 |
147 |
6.58e-55 |
SMART |
|
Gal-bind_lectin
|
21 |
146 |
5.24e-55 |
SMART |
|
GLECT
|
192 |
322 |
5.38e-60 |
SMART |
|
Gal-bind_lectin
|
198 |
322 |
1.33e-65 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108269
AA Change: A6V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103904
Gene: ENSMUSG00000001123
AA Change: A6V
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
15 |
147 |
6.58e-55 |
SMART |
|
Gal-bind_lectin
|
21 |
146 |
5.24e-55 |
SMART |
|
GLECT
|
223 |
353 |
5.38e-60 |
SMART |
|
Gal-bind_lectin
|
229 |
353 |
1.33e-65 |
SMART |
|
| 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 was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to collagen-induced arthritis, increased T-helper 1 cells and decreased regulatory T cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,761,959 (GRCm39) |
K1589R |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,240,293 (GRCm39) |
F17L |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,456,626 (GRCm39) |
L465H |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,856,135 (GRCm39) |
D725V |
probably damaging |
Het |
| Cert1 |
T |
A |
13: 96,770,700 (GRCm39) |
D536E |
probably benign |
Het |
| Chl1 |
C |
T |
6: 103,652,058 (GRCm39) |
R309C |
probably damaging |
Het |
| Dbt |
T |
A |
3: 116,341,847 (GRCm39) |
*483K |
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,785,907 (GRCm39) |
D29G |
unknown |
Het |
| Des |
T |
C |
1: 75,338,985 (GRCm39) |
I222T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,891,323 (GRCm39) |
N776S |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,145,103 (GRCm39) |
L2712Q |
probably benign |
Het |
| Glb1l3 |
A |
C |
9: 26,729,601 (GRCm39) |
V622G |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,487,704 (GRCm39) |
D398G |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,524,293 (GRCm39) |
M143T |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,245,047 (GRCm39) |
R245C |
probably damaging |
Het |
| Lman2l |
A |
T |
1: 36,482,628 (GRCm39) |
Y83N |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,256,383 (GRCm39) |
T4586S |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
A |
C |
5: 112,937,863 (GRCm39) |
L1754R |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,172,679 (GRCm39) |
L1202S |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,594,878 (GRCm39) |
E1441G |
probably damaging |
Het |
| Nme8 |
T |
C |
13: 19,880,776 (GRCm39) |
E60G |
possibly damaging |
Het |
| Npffr2 |
G |
T |
5: 89,731,020 (GRCm39) |
A317S |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,726 (GRCm39) |
D893G |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,858,681 (GRCm39) |
E410G |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,890,832 (GRCm39) |
I46T |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,247,207 (GRCm39) |
|
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,358 (GRCm39) |
D478G |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,826 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,243 (GRCm39) |
H3103Q |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,987,787 (GRCm39) |
|
probably null |
Het |
| Rac3 |
C |
T |
11: 120,614,092 (GRCm39) |
T118M |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,569,833 (GRCm39) |
S50P |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,419,747 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,841 (GRCm39) |
E356D |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,944,858 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,147,827 (GRCm39) |
I858F |
possibly damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,742,447 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
C |
4: 58,116,532 (GRCm39) |
V906G |
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,757,990 (GRCm39) |
E261G |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,504,951 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,580,996 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lgals9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Lgals9
|
APN |
11 |
78,863,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Lgals9
|
APN |
11 |
78,863,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02194:Lgals9
|
APN |
11 |
78,857,746 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02390:Lgals9
|
APN |
11 |
78,854,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02987:Lgals9
|
APN |
11 |
78,858,303 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03388:Lgals9
|
APN |
11 |
78,854,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0057:Lgals9
|
UTSW |
11 |
78,862,262 (GRCm39) |
splice site |
probably benign |
|
|
R0143:Lgals9
|
UTSW |
11 |
78,854,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Lgals9
|
UTSW |
11 |
78,854,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0522:Lgals9
|
UTSW |
11 |
78,856,638 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0542:Lgals9
|
UTSW |
11 |
78,860,546 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0673:Lgals9
|
UTSW |
11 |
78,856,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1312:Lgals9
|
UTSW |
11 |
78,867,443 (GRCm39) |
nonsense |
probably null |
|
|
R2000:Lgals9
|
UTSW |
11 |
78,863,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4083:Lgals9
|
UTSW |
11 |
78,860,589 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4084:Lgals9
|
UTSW |
11 |
78,860,589 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4157:Lgals9
|
UTSW |
11 |
78,863,933 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4204:Lgals9
|
UTSW |
11 |
78,860,642 (GRCm39) |
splice site |
probably benign |
|
|
R4892:Lgals9
|
UTSW |
11 |
78,856,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5650:Lgals9
|
UTSW |
11 |
78,863,980 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6155:Lgals9
|
UTSW |
11 |
78,854,331 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6166:Lgals9
|
UTSW |
11 |
78,862,184 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6405:Lgals9
|
UTSW |
11 |
78,862,211 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6853:Lgals9
|
UTSW |
11 |
78,856,832 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8035:Lgals9
|
UTSW |
11 |
78,854,302 (GRCm39) |
nonsense |
probably null |
|
|
R8862:Lgals9
|
UTSW |
11 |
78,860,716 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation