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 |
Incidental Mutation