Incidental Mutation 'IGL02880:Lag3'
ID |
362780 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lag3
|
Ensembl Gene |
ENSMUSG00000030124 |
Gene Name |
lymphocyte-activation gene 3 |
Synonyms |
LAG-3, CD223, Ly66 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
IGL02880
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124881324-124888668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124882434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 354
(L354S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032217]
|
AlphaFold |
Q61790 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032217
AA Change: L354S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000032217 Gene: ENSMUSG00000030124 AA Change: L354S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IG
|
29 |
163 |
1.3e-2 |
SMART |
IG
|
170 |
254 |
6.51e-3 |
SMART |
IG
|
261 |
345 |
4.96e-8 |
SMART |
Blast:IG_like
|
348 |
421 |
2e-28 |
BLAST |
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
low complexity region
|
492 |
521 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139571
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene have a generally normal phenotype but do display reduced natural killer cell activity and increased T cell response to infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankzf1 |
T |
C |
1: 75,169,312 (GRCm39) |
S73P |
probably benign |
Het |
Camsap3 |
T |
C |
8: 3,653,913 (GRCm39) |
Y517H |
probably damaging |
Het |
Catsperg1 |
C |
T |
7: 28,894,910 (GRCm39) |
M562I |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,283,310 (GRCm39) |
D7G |
probably benign |
Het |
Ccdc65 |
A |
C |
15: 98,606,973 (GRCm39) |
N60T |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Col19a1 |
A |
G |
1: 24,365,054 (GRCm39) |
|
probably benign |
Het |
Ddx6 |
T |
C |
9: 44,524,194 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
G |
A |
6: 5,966,821 (GRCm39) |
|
probably null |
Het |
Eml6 |
T |
C |
11: 29,699,959 (GRCm39) |
N1726D |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,660,640 (GRCm39) |
S706P |
probably damaging |
Het |
Fcamr |
C |
T |
1: 130,741,071 (GRCm39) |
P497S |
probably benign |
Het |
Galntl6 |
T |
C |
8: 58,257,306 (GRCm39) |
E477G |
probably benign |
Het |
Gatd1 |
T |
G |
7: 140,990,951 (GRCm39) |
Q65H |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Lrp1 |
A |
C |
10: 127,376,091 (GRCm39) |
V4342G |
probably benign |
Het |
Rap1gds1 |
T |
C |
3: 138,651,517 (GRCm39) |
I491V |
probably benign |
Het |
Scrib |
A |
G |
15: 75,937,973 (GRCm39) |
L291P |
probably damaging |
Het |
Shoc2 |
T |
C |
19: 54,019,525 (GRCm39) |
Y523H |
probably benign |
Het |
Slc47a2 |
C |
T |
11: 61,198,366 (GRCm39) |
G443E |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,654,024 (GRCm39) |
|
probably benign |
Het |
Stra6l |
C |
T |
4: 45,885,278 (GRCm39) |
T582M |
possibly damaging |
Het |
Tmem144 |
G |
A |
3: 79,734,929 (GRCm39) |
T163I |
probably benign |
Het |
Tnfrsf17 |
T |
C |
16: 11,137,622 (GRCm39) |
Y120H |
probably damaging |
Het |
Tspan3 |
G |
T |
9: 56,053,800 (GRCm39) |
Q184K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,628,270 (GRCm39) |
V14630D |
possibly damaging |
Het |
Zfp236 |
T |
A |
18: 82,642,584 (GRCm39) |
N1054I |
probably benign |
Het |
|
Other mutations in Lag3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01128:Lag3
|
APN |
6 |
124,886,380 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01867:Lag3
|
APN |
6 |
124,887,869 (GRCm39) |
missense |
probably benign |
|
R1502:Lag3
|
UTSW |
6 |
124,886,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R1573:Lag3
|
UTSW |
6 |
124,886,210 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1886:Lag3
|
UTSW |
6 |
124,886,402 (GRCm39) |
missense |
probably damaging |
0.99 |
R1907:Lag3
|
UTSW |
6 |
124,886,450 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2508:Lag3
|
UTSW |
6 |
124,888,272 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3016:Lag3
|
UTSW |
6 |
124,885,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Lag3
|
UTSW |
6 |
124,887,103 (GRCm39) |
missense |
probably benign |
0.05 |
R3732:Lag3
|
UTSW |
6 |
124,887,103 (GRCm39) |
missense |
probably benign |
0.05 |
R3733:Lag3
|
UTSW |
6 |
124,887,103 (GRCm39) |
missense |
probably benign |
0.05 |
R3734:Lag3
|
UTSW |
6 |
124,887,103 (GRCm39) |
missense |
probably benign |
0.05 |
R4679:Lag3
|
UTSW |
6 |
124,881,508 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4994:Lag3
|
UTSW |
6 |
124,881,416 (GRCm39) |
missense |
unknown |
|
R5057:Lag3
|
UTSW |
6 |
124,882,318 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5527:Lag3
|
UTSW |
6 |
124,885,592 (GRCm39) |
missense |
probably damaging |
0.99 |
R7227:Lag3
|
UTSW |
6 |
124,885,457 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7255:Lag3
|
UTSW |
6 |
124,887,198 (GRCm39) |
missense |
probably benign |
0.04 |
R8081:Lag3
|
UTSW |
6 |
124,882,410 (GRCm39) |
nonsense |
probably null |
|
R8138:Lag3
|
UTSW |
6 |
124,882,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R8710:Lag3
|
UTSW |
6 |
124,885,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R9126:Lag3
|
UTSW |
6 |
124,881,809 (GRCm39) |
missense |
probably damaging |
0.99 |
X0009:Lag3
|
UTSW |
6 |
124,882,315 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Posted On |
2015-12-18 |