Incidental Mutation 'R4157:Lgals9'
| ID |
315591 |
| 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 |
041000-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4157 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78853805-78875750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78863933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 71
(V71L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073001]
[ENSMUST00000108268]
[ENSMUST00000108269]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073001
AA Change: V71L
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072764
Gene: ENSMUSG00000001123
AA Change: V71L
| 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: V71L
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103903
Gene: ENSMUSG00000001123
AA Change: V71L
| 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 |
possibly damaging
Transcript: ENSMUST00000108269
AA Change: V71L
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103904
Gene: ENSMUSG00000001123
AA Change: V71L
| 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 |
0.1891 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
95% (52/55) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
G |
T |
9: 90,070,414 (GRCm39) |
R585L |
probably damaging |
Het |
| Adamtsl5 |
C |
T |
10: 80,181,156 (GRCm39) |
R75Q |
probably null |
Het |
| Ankrd26 |
T |
A |
6: 118,484,782 (GRCm39) |
Q1485L |
probably damaging |
Het |
| Apbb2 |
G |
A |
5: 66,459,947 (GRCm39) |
R717* |
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,365,591 (GRCm39) |
E735G |
probably damaging |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| C4b |
A |
G |
17: 34,961,829 (GRCm39) |
I139T |
probably damaging |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Cdk8 |
A |
T |
5: 146,236,259 (GRCm39) |
|
probably benign |
Het |
| Ctif |
T |
C |
18: 75,568,341 (GRCm39) |
H599R |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,110,192 (GRCm39) |
I26T |
possibly damaging |
Het |
| Dnajc4 |
T |
C |
19: 6,967,208 (GRCm39) |
N72S |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
| Inpp5f |
C |
T |
7: 128,281,423 (GRCm39) |
|
probably benign |
Het |
| Irx4 |
A |
T |
13: 73,413,662 (GRCm39) |
Q44L |
probably benign |
Het |
| Krt9 |
T |
A |
11: 100,079,475 (GRCm39) |
Y639F |
unknown |
Het |
| Mdga1 |
T |
C |
17: 30,052,317 (GRCm39) |
N143S |
probably benign |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Nup50l |
C |
G |
6: 96,142,264 (GRCm39) |
W260S |
possibly damaging |
Het |
| Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
| Orm2 |
T |
A |
4: 63,282,222 (GRCm39) |
F133L |
probably null |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Pidd1 |
A |
G |
7: 141,021,279 (GRCm39) |
V333A |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,021,878 (GRCm39) |
F341L |
probably damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,175 (GRCm39) |
S875T |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Snx22 |
T |
C |
9: 65,975,493 (GRCm39) |
Y92C |
probably damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Swt1 |
A |
T |
1: 151,278,795 (GRCm39) |
V454E |
probably damaging |
Het |
| Tmem54 |
G |
A |
4: 129,004,504 (GRCm39) |
R151Q |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,384,491 (GRCm38) |
N80S |
probably benign |
Het |
| Trim7 |
T |
C |
11: 48,738,920 (GRCm39) |
V313A |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,790,013 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,597,729 (GRCm39) |
V121A |
probably benign |
Het |
| Wdr20 |
G |
A |
12: 110,704,608 (GRCm39) |
R49H |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
probably benign |
Het |
| Zfp398 |
A |
T |
6: 47,812,843 (GRCm39) |
T5S |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
| Zfp523 |
C |
T |
17: 28,421,257 (GRCm39) |
A367V |
probably benign |
Het |
| Zfp748 |
G |
A |
13: 67,690,225 (GRCm39) |
S345L |
possibly damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAATGTGGTTTGCCCAGG -3'
(R):5'- AATGCGGTAACTGCACAAAATG -3'
Sequencing Primer
(F):5'- TTGCCCAGGGAGCAGGTTG -3'
(R):5'- AGGTCTGAATCCGATGAACTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation