Incidental Mutation 'IGL01867:Lag3'
| ID |
178570 |
| 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: 0.091)
|
| Stock # |
IGL01867
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124881324-124888668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124887869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
| 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: S22P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032217
Gene: ENSMUSG00000030124
AA Change: S22P
| 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
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,635,364 (GRCm39) |
E213G |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,934,791 (GRCm39) |
L761P |
probably damaging |
Het |
| Bbs7 |
A |
C |
3: 36,627,696 (GRCm39) |
L697R |
probably benign |
Het |
| Cd74 |
G |
A |
18: 60,941,352 (GRCm39) |
R99H |
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,751,137 (GRCm39) |
N182S |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,057 (GRCm39) |
H429R |
probably benign |
Het |
| Dact2 |
A |
T |
17: 14,415,932 (GRCm39) |
M756K |
probably damaging |
Het |
| Ets1 |
A |
G |
9: 32,645,455 (GRCm39) |
D234G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,289,197 (GRCm39) |
S109A |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,735,990 (GRCm39) |
M528I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,261,548 (GRCm39) |
F1189L |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,740,739 (GRCm39) |
|
probably benign |
Het |
| Insyn2b |
A |
G |
11: 34,353,065 (GRCm39) |
E369G |
probably benign |
Het |
| Mos |
G |
T |
4: 3,870,845 (GRCm39) |
Q324K |
probably benign |
Het |
| Mtx2 |
T |
A |
2: 74,706,733 (GRCm39) |
V236E |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,820 (GRCm39) |
T568A |
probably benign |
Het |
| Or5k8 |
A |
G |
16: 58,644,337 (GRCm39) |
F245S |
probably damaging |
Het |
| Or6c35 |
T |
A |
10: 129,169,232 (GRCm39) |
L161M |
probably damaging |
Het |
| Or6c68 |
T |
C |
10: 129,157,585 (GRCm39) |
I31T |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,406,696 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or8b53 |
A |
C |
9: 38,667,194 (GRCm39) |
D70A |
probably damaging |
Het |
| Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,634,008 (GRCm39) |
V1365A |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,168,727 (GRCm39) |
C241F |
probably benign |
Het |
| Prr23a2 |
A |
G |
9: 98,739,113 (GRCm39) |
E157G |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,603,329 (GRCm39) |
H836Q |
probably benign |
Het |
| Ptprd |
C |
T |
4: 76,161,884 (GRCm39) |
R117H |
probably damaging |
Het |
| Rab11fip4 |
T |
C |
11: 79,574,216 (GRCm39) |
S102P |
probably benign |
Het |
| Slc44a1 |
G |
T |
4: 53,536,405 (GRCm39) |
V194F |
probably damaging |
Het |
| Synm |
T |
A |
7: 67,383,222 (GRCm39) |
H1480L |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,783,570 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Trmt61a |
C |
T |
12: 111,645,150 (GRCm39) |
R29C |
probably benign |
Het |
| Ubap1 |
C |
T |
4: 41,379,236 (GRCm39) |
T150I |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,214 (GRCm39) |
M353V |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,334,411 (GRCm39) |
M1135T |
possibly damaging |
Het |
| Vmn1r25 |
A |
C |
6: 57,956,196 (GRCm39) |
L31R |
probably damaging |
Het |
| Wtap |
T |
C |
17: 13,188,342 (GRCm39) |
E186G |
probably benign |
Het |
| Wwc2 |
T |
G |
8: 48,336,615 (GRCm39) |
N216H |
probably benign |
Het |
| Zhx1 |
A |
T |
15: 57,917,841 (GRCm39) |
M135K |
probably damaging |
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 |
|
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 |
2014-05-07 |
Incidental Mutation