Incidental Mutation 'R4204:Lgals9'
| ID |
318837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgals9
|
| Ensembl Gene |
ENSMUSG00000001123 |
| Gene Name |
lectin, galactose binding, soluble 9 |
| Synonyms |
LGALS35, gal-9, Lgals5, galectin-9 |
| MMRRC Submission |
041033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4204 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78853805-78875750 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 78860642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073001]
[ENSMUST00000108268]
[ENSMUST00000108269]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073001
|
| SMART Domains |
Protein: ENSMUSP00000072764
Gene: ENSMUSG00000001123
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103903
Gene: ENSMUSG00000001123
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103904
Gene: ENSMUSG00000001123
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (46/47) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,090,369 (GRCm39) |
K360R |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| B130006D01Rik |
A |
G |
11: 95,617,250 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
A |
T |
3: 95,797,057 (GRCm39) |
Y37* |
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,599,392 (GRCm39) |
M736L |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,413,399 (GRCm39) |
K646E |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,410,335 (GRCm39) |
T192A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,368,013 (GRCm39) |
P241T |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,109,505 (GRCm39) |
Y235H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,923 (GRCm39) |
Y32H |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,046 (GRCm39) |
S335A |
probably damaging |
Het |
| Mfrp |
G |
A |
9: 44,016,525 (GRCm39) |
G407S |
possibly damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,820,670 (GRCm39) |
G160R |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,221,119 (GRCm39) |
Q776L |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,745,256 (GRCm39) |
Y35C |
probably damaging |
Het |
| Nhej1 |
A |
T |
1: 75,085,782 (GRCm39) |
I6N |
probably damaging |
Het |
| Npy5r |
G |
T |
8: 67,134,693 (GRCm39) |
Y33* |
probably null |
Het |
| Or4c120 |
A |
G |
2: 89,001,124 (GRCm39) |
V144A |
probably benign |
Het |
| Pcdha8 |
G |
C |
18: 37,127,737 (GRCm39) |
V740L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,359,053 (GRCm39) |
C90F |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,871,115 (GRCm39) |
H62L |
probably benign |
Het |
| Prodh |
A |
G |
16: 17,890,182 (GRCm39) |
V553A |
probably damaging |
Het |
| Rasgef1c |
G |
A |
11: 49,849,535 (GRCm39) |
V137M |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,231,042 (GRCm39) |
R1363* |
probably null |
Het |
| Rgl2 |
G |
T |
17: 34,155,906 (GRCm39) |
V694L |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,048 (GRCm39) |
N294D |
probably benign |
Het |
| Rpe65 |
G |
A |
3: 159,310,047 (GRCm39) |
A107T |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,410,892 (GRCm39) |
R56G |
possibly damaging |
Het |
| Serp2 |
A |
G |
14: 76,793,902 (GRCm39) |
I18T |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,868,415 (GRCm39) |
I92V |
probably benign |
Het |
| Tcaim |
A |
G |
9: 122,662,683 (GRCm39) |
K417R |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,829 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,964,928 (GRCm39) |
D1474E |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,944,593 (GRCm39) |
E43G |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,642,539 (GRCm39) |
E146K |
probably benign |
Het |
| Zfp800 |
C |
T |
6: 28,243,180 (GRCm39) |
S595N |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGACACAATTCTGGGCAG -3'
(R):5'- TTCTTGACCCTTCCTGCAGGAG -3'
Sequencing Primer
(F):5'- CACAATTCTGGGCAGCTGGTG -3'
(R):5'- CAGGAGCAGAAGCAGGAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation