Incidental Mutation 'IGL01128:Lag3'
| ID |
51356 |
| 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 # |
IGL01128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124881324-124888668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124886380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 191
(D191G)
|
| 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 damaging
Transcript: ENSMUST00000032217
AA Change: D191G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032217
Gene: ENSMUSG00000030124
AA Change: D191G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204671
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,950,332 (GRCm39) |
T128A |
probably benign |
Het |
| Bves |
T |
A |
10: 45,229,944 (GRCm39) |
F249L |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,558 (GRCm39) |
I214V |
probably benign |
Het |
| Cgnl1 |
G |
T |
9: 71,631,843 (GRCm39) |
Q503K |
possibly damaging |
Het |
| Ep300 |
A |
G |
15: 81,514,207 (GRCm39) |
|
probably benign |
Het |
| Fam117b |
T |
A |
1: 60,008,177 (GRCm39) |
F337Y |
probably damaging |
Het |
| Fam178b |
A |
T |
1: 36,683,435 (GRCm39) |
V95E |
probably damaging |
Het |
| Gak |
T |
A |
5: 108,740,236 (GRCm39) |
M560L |
probably damaging |
Het |
| Gna11 |
C |
A |
10: 81,366,718 (GRCm39) |
A331S |
probably damaging |
Het |
| Gtf3c3 |
A |
C |
1: 54,468,035 (GRCm39) |
F201V |
possibly damaging |
Het |
| Kat6b |
G |
A |
14: 21,710,928 (GRCm39) |
R734H |
probably benign |
Het |
| Mttp |
T |
A |
3: 137,839,758 (GRCm39) |
|
probably null |
Het |
| Nlgn3 |
A |
T |
X: 100,363,698 (GRCm39) |
T790S |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,406 (GRCm39) |
D179G |
probably damaging |
Het |
| Or5b123 |
G |
A |
19: 13,597,110 (GRCm39) |
E195K |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,550,068 (GRCm39) |
Y238N |
probably damaging |
Het |
| Plg |
A |
T |
17: 12,615,586 (GRCm39) |
|
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,096 (GRCm39) |
C376S |
probably damaging |
Het |
| Rexo1 |
T |
C |
10: 80,385,573 (GRCm39) |
D495G |
probably benign |
Het |
| Rims1 |
A |
T |
1: 22,573,256 (GRCm39) |
V315D |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 52,018,424 (GRCm39) |
Q745* |
probably null |
Het |
| Satb1 |
A |
G |
17: 52,112,317 (GRCm39) |
V99A |
probably damaging |
Het |
| Sema3e |
C |
T |
5: 14,282,129 (GRCm39) |
P422S |
probably damaging |
Het |
| Stkld1 |
G |
T |
2: 26,841,483 (GRCm39) |
W476L |
probably benign |
Het |
| Syna |
T |
C |
5: 134,588,334 (GRCm39) |
D205G |
probably damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,027,650 (GRCm39) |
T880A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,212,130 (GRCm39) |
E363G |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 19,980,718 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lag3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation