Incidental Mutation 'R4892:Lgals9'
| ID |
377354 |
| 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 |
042497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78853805-78875750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78856909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 223
(I223L)
|
| 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
AA Change: I222L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072764
Gene: ENSMUSG00000001123
AA Change: I222L
| 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: I192L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103903
Gene: ENSMUSG00000001123
AA Change: I192L
| 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: I223L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103904
Gene: ENSMUSG00000001123
AA Change: I223L
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
| Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,696 (GRCm39) |
M263K |
probably benign |
Het |
| Capn11 |
GACA |
GA |
17: 45,944,023 (GRCm39) |
|
probably null |
Het |
| Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 119,958,883 (GRCm39) |
R717H |
probably damaging |
Het |
| Cpt1c |
A |
G |
7: 44,609,012 (GRCm39) |
F770L |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
| Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
| Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
| Kat8 |
T |
A |
7: 127,514,710 (GRCm39) |
I123N |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
| Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
| Or2y1c |
C |
A |
11: 49,361,043 (GRCm39) |
Q22K |
probably benign |
Het |
| Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
| Prelid2 |
A |
G |
18: 42,084,209 (GRCm39) |
F11S |
possibly damaging |
Het |
| Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
| Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
| Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
| Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
| Ttc29 |
T |
C |
8: 79,060,274 (GRCm39) |
V398A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
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 |
|
R4204:Lgals9
|
UTSW |
11 |
78,860,642 (GRCm39) |
splice site |
probably benign |
|
|
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'- ATGGACAGTTCACAGAGACCC -3'
(R):5'- GAAACACAGGAAGGGTTCTTTTG -3'
Sequencing Primer
(F):5'- CAGAGACCCCGTTTAGTTACTGAG -3'
(R):5'- AACACAGGAAGGGTTCTTTTGTTTTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation