Incidental Mutation 'R3734:Lag3'
ID |
269998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lag3
|
Ensembl Gene |
ENSMUSG00000030124 |
Gene Name |
lymphocyte-activation gene 3 |
Synonyms |
LAG-3, CD223, Ly66 |
MMRRC Submission |
040721-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R3734 (G1)
|
Quality Score |
139 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124881324-124888668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124887103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 155
(S155T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032216]
[ENSMUST00000032217]
|
AlphaFold |
Q61790 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032216
|
SMART Domains |
Protein: ENSMUSP00000032216 Gene: ENSMUSG00000030122
Domain | Start | End | E-Value | Type |
Pfam:Prothymosin
|
2 |
98 |
1e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000032217
AA Change: S155T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000032217 Gene: ENSMUSG00000030124 AA Change: S155T
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: ENSMUST00000134916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181150
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204671
|
Meta Mutation Damage Score |
0.0987 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
95% (41/43) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
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 |
|
IGL02880:Lag3
|
APN |
6 |
124,882,434 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAAAGGCGAGCGTTTCAGG -3'
(R):5'- AGTGCATCTTCTTCGTGGCC -3'
Sequencing Primer
(F):5'- GTTTCAGGGGGCACTTTCCAAC -3'
(R):5'- TCGCTACACGGTGCTGAG -3'
|
Posted On |
2015-03-18 |