Incidental Mutation 'IGL03388:Lgals9'
| ID |
420959 |
| 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 # |
IGL03388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78853805-78875750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78854247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 346
(I346F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018610]
[ENSMUST00000073001]
[ENSMUST00000108268]
[ENSMUST00000108269]
[ENSMUST00000214397]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018610
|
| SMART Domains |
Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NO_synthase
|
129 |
491 |
6.7e-189 |
PFAM |
|
Pfam:Flavodoxin_1
|
535 |
666 |
5.5e-43 |
PFAM |
|
Pfam:FAD_binding_1
|
719 |
941 |
8.8e-79 |
PFAM |
|
Pfam:NAD_binding_1
|
973 |
1087 |
4.1e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073001
AA Change: I345F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072764
Gene: ENSMUSG00000001123
AA Change: I345F
| 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 |
possibly damaging
Transcript: ENSMUST00000108268
AA Change: I315F
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103903
Gene: ENSMUSG00000001123
AA Change: I315F
| 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 damaging
Transcript: ENSMUST00000108269
AA Change: I346F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103904
Gene: ENSMUSG00000001123
AA Change: I346F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140073
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214397
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
C |
11: 117,693,596 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,801 (GRCm39) |
K340R |
possibly damaging |
Het |
| Ccr3 |
A |
G |
9: 123,828,658 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,992 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,433,233 (GRCm39) |
D237E |
possibly damaging |
Het |
| Ddx18 |
T |
C |
1: 121,493,652 (GRCm39) |
K111E |
possibly damaging |
Het |
| Defa21 |
T |
C |
8: 21,515,764 (GRCm39) |
L54P |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,416,208 (GRCm39) |
V486A |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,368 (GRCm39) |
D3143V |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,131,916 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,702,105 (GRCm39) |
Y510C |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,663,716 (GRCm39) |
V271A |
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,799,113 (GRCm39) |
V460A |
probably benign |
Het |
| Hspa8 |
T |
C |
9: 40,716,224 (GRCm39) |
|
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,356 (GRCm39) |
E166G |
probably damaging |
Het |
| Il31ra |
C |
A |
13: 112,682,746 (GRCm39) |
S120I |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,060 (GRCm39) |
T1323A |
probably benign |
Het |
| Lgi2 |
T |
C |
5: 52,695,819 (GRCm39) |
D372G |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,157 (GRCm39) |
S1187A |
probably benign |
Het |
| Nr1d2 |
A |
G |
14: 18,215,403 (GRCm38) |
F203S |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,077,351 (GRCm39) |
V896I |
probably damaging |
Het |
| Nxf7 |
T |
C |
X: 134,485,489 (GRCm39) |
K440E |
probably damaging |
Het |
| Or6c206 |
A |
T |
10: 129,097,312 (GRCm39) |
I161F |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,984 (GRCm39) |
V200D |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,469,190 (GRCm39) |
S20P |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,372,511 (GRCm39) |
|
probably benign |
Het |
| Pi15 |
G |
A |
1: 17,673,001 (GRCm39) |
A67T |
probably benign |
Het |
| Pnp2 |
A |
T |
14: 51,200,995 (GRCm39) |
N160I |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,069 (GRCm39) |
|
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,093 (GRCm39) |
|
probably null |
Het |
| Rnf115 |
G |
A |
3: 96,695,984 (GRCm39) |
V257M |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,127,071 (GRCm39) |
V346D |
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,661,938 (GRCm39) |
N427K |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sel1l2 |
A |
C |
2: 140,105,284 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,459,042 (GRCm39) |
L472* |
probably null |
Het |
| Slc5a5 |
A |
G |
8: 71,342,972 (GRCm39) |
V196A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,316,686 (GRCm39) |
L207H |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,157,344 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,720,907 (GRCm39) |
K1409R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,797,481 (GRCm39) |
A528T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,142,343 (GRCm39) |
I1310T |
probably damaging |
Het |
| Ypel5 |
T |
C |
17: 73,153,400 (GRCm39) |
F35L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,795,888 (GRCm39) |
R228S |
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 |
|
IGL03288:Lgals9
|
APN |
11 |
78,875,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
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