Incidental Mutation 'IGL01415:Lgals9'
| ID |
278457 |
| 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 # |
IGL01415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78853805-78875750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 78863977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 56
(D56A)
|
| 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 damaging
Transcript: ENSMUST00000073001
AA Change: D56A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072764
Gene: ENSMUSG00000001123
AA Change: D56A
| 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 damaging
Transcript: ENSMUST00000108268
AA Change: D56A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103903
Gene: ENSMUSG00000001123
AA Change: D56A
| 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: D56A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103904
Gene: ENSMUSG00000001123
AA Change: D56A
| 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
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd44 |
T |
C |
1: 54,792,087 (GRCm39) |
H316R |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,709,275 (GRCm39) |
M1117I |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,881 (GRCm39) |
D213G |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
| Chkb |
A |
T |
15: 89,312,987 (GRCm39) |
L30H |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,079,962 (GRCm39) |
K758E |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,415,781 (GRCm39) |
Q634* |
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,754 (GRCm39) |
Q42R |
probably damaging |
Het |
| Esrra |
C |
A |
19: 6,890,100 (GRCm39) |
W98C |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,058 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
G |
T |
9: 69,941,739 (GRCm39) |
H276Q |
probably benign |
Het |
| Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
| Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
A |
10: 62,229,638 (GRCm39) |
N680Y |
probably damaging |
Het |
| Ighe |
A |
C |
12: 113,235,011 (GRCm39) |
L383R |
unknown |
Het |
| Marveld3 |
G |
A |
8: 110,688,705 (GRCm39) |
T12I |
possibly damaging |
Het |
| Nab2 |
A |
T |
10: 127,500,972 (GRCm39) |
L40Q |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,439,798 (GRCm39) |
E323G |
probably benign |
Het |
| Nubpl |
T |
A |
12: 52,317,853 (GRCm39) |
V182E |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
| Or4c11 |
T |
A |
2: 88,695,864 (GRCm39) |
M305K |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,438,974 (GRCm39) |
Y259H |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,714,652 (GRCm39) |
I190T |
probably damaging |
Het |
| Plcl1 |
G |
A |
1: 55,735,555 (GRCm39) |
V299M |
possibly damaging |
Het |
| Ppp4r1 |
G |
A |
17: 66,120,522 (GRCm39) |
E219K |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,005,492 (GRCm39) |
A280T |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,061,663 (GRCm39) |
I370V |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,695 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
G |
3: 146,615,354 (GRCm39) |
S273A |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,074,944 (GRCm39) |
N1401D |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,291,830 (GRCm39) |
R588Q |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation