Incidental Mutation 'R4022:Lax1'
ID |
313275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lax1
|
Ensembl Gene |
ENSMUSG00000051998 |
Gene Name |
lymphocyte transmembrane adaptor 1 |
Synonyms |
E430019B13Rik |
MMRRC Submission |
040956-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R4022 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133606829-133617846 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 133610774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 105
(G105S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169295]
[ENSMUST00000189524]
|
AlphaFold |
Q8BHB3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169295
AA Change: G105S
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000131126 Gene: ENSMUSG00000051998 AA Change: G105S
Domain | Start | End | E-Value | Type |
Pfam:LAX
|
27 |
378 |
2.4e-172 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189524
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (58/59) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit spontaneous germinal center formation and increased IgG1, IgG2a, and IgE levels. T and B cells are hyperresponsive upon engagement of T or B AgRs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abo |
T |
A |
2: 26,733,812 (GRCm39) |
Y131F |
probably damaging |
Het |
Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
Ago3 |
T |
A |
4: 126,262,386 (GRCm39) |
N388I |
probably benign |
Het |
Arfgef2 |
G |
T |
2: 166,715,865 (GRCm39) |
V1385L |
probably benign |
Het |
Camk2a |
A |
T |
18: 61,097,000 (GRCm39) |
K28* |
probably null |
Het |
Ccdc180 |
T |
A |
4: 45,904,560 (GRCm39) |
Y385* |
probably null |
Het |
Cd209g |
A |
T |
8: 4,185,955 (GRCm39) |
Q46L |
possibly damaging |
Het |
Cdh22 |
T |
C |
2: 164,999,173 (GRCm39) |
T220A |
probably benign |
Het |
Cltc |
A |
T |
11: 86,611,174 (GRCm39) |
C562S |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
Dhx30 |
T |
C |
9: 109,913,465 (GRCm39) |
D1223G |
possibly damaging |
Het |
Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
Erbb2 |
T |
G |
11: 98,326,123 (GRCm39) |
C966W |
probably benign |
Het |
Exoc1 |
C |
T |
5: 76,697,417 (GRCm39) |
T405I |
possibly damaging |
Het |
Fbxo28 |
T |
C |
1: 182,157,475 (GRCm39) |
N108S |
possibly damaging |
Het |
Fhdc1 |
T |
C |
3: 84,352,409 (GRCm39) |
E157G |
probably benign |
Het |
Gstcd |
C |
T |
3: 132,787,829 (GRCm39) |
V290M |
probably damaging |
Het |
Hps3 |
A |
G |
3: 20,089,425 (GRCm39) |
V2A |
possibly damaging |
Het |
Ilrun |
T |
C |
17: 28,005,236 (GRCm39) |
E107G |
probably damaging |
Het |
Itsn2 |
G |
A |
12: 4,674,927 (GRCm39) |
R23H |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lin7c |
G |
T |
2: 109,726,790 (GRCm39) |
|
probably null |
Het |
Lrrn2 |
T |
C |
1: 132,866,852 (GRCm39) |
V639A |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,269,504 (GRCm39) |
S576P |
probably benign |
Het |
Mast4 |
G |
T |
13: 102,990,377 (GRCm39) |
A48E |
probably damaging |
Het |
Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
Mat2a |
G |
A |
6: 72,413,227 (GRCm39) |
R168C |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,037,200 (GRCm39) |
V700A |
probably damaging |
Het |
Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
Myh2 |
G |
T |
11: 67,070,230 (GRCm39) |
E421* |
probably null |
Het |
Or12d2 |
T |
A |
17: 37,625,165 (GRCm39) |
I37L |
probably benign |
Het |
Or5k17 |
T |
C |
16: 58,746,483 (GRCm39) |
I150M |
possibly damaging |
Het |
Pecam1 |
T |
C |
11: 106,545,986 (GRCm39) |
N693D |
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
Prune2 |
A |
G |
19: 16,977,384 (GRCm39) |
T40A |
probably damaging |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Reln |
T |
C |
5: 22,432,628 (GRCm39) |
Q124R |
probably benign |
Het |
Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Sall3 |
T |
A |
18: 81,013,055 (GRCm39) |
E1127V |
probably benign |
Het |
Sertad3 |
A |
G |
7: 27,176,120 (GRCm39) |
N185D |
probably damaging |
Het |
Sox1 |
A |
G |
8: 12,446,719 (GRCm39) |
Y120C |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
Spart |
G |
T |
3: 55,025,157 (GRCm39) |
V251L |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,534,636 (GRCm39) |
E3631G |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,721,480 (GRCm39) |
T848A |
probably benign |
Het |
Tmem11 |
T |
C |
11: 60,756,154 (GRCm39) |
D12G |
possibly damaging |
Het |
Trim28 |
T |
C |
7: 12,762,485 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
T |
A |
6: 115,524,948 (GRCm39) |
V49E |
probably damaging |
Het |
Tspan1 |
C |
T |
4: 116,024,232 (GRCm39) |
M10I |
probably benign |
Het |
Uncx |
A |
T |
5: 139,532,444 (GRCm39) |
T170S |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,236,421 (GRCm39) |
|
probably benign |
Het |
Vmn1r84 |
T |
C |
7: 12,095,857 (GRCm39) |
I267V |
probably benign |
Het |
Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
probably benign |
Het |
|
Other mutations in Lax1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01433:Lax1
|
APN |
1 |
133,608,137 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01568:Lax1
|
APN |
1 |
133,608,038 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02352:Lax1
|
APN |
1 |
133,608,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02359:Lax1
|
APN |
1 |
133,608,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02449:Lax1
|
APN |
1 |
133,607,874 (GRCm39) |
missense |
probably damaging |
0.98 |
yon
|
UTSW |
1 |
133,610,774 (GRCm39) |
missense |
probably benign |
0.20 |
R0391:Lax1
|
UTSW |
1 |
133,607,804 (GRCm39) |
missense |
probably benign |
0.24 |
R1728:Lax1
|
UTSW |
1 |
133,611,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Lax1
|
UTSW |
1 |
133,607,716 (GRCm39) |
missense |
probably benign |
|
R1728:Lax1
|
UTSW |
1 |
133,608,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Lax1
|
UTSW |
1 |
133,611,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1729:Lax1
|
UTSW |
1 |
133,607,716 (GRCm39) |
missense |
probably benign |
|
R1729:Lax1
|
UTSW |
1 |
133,608,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Lax1
|
UTSW |
1 |
133,611,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Lax1
|
UTSW |
1 |
133,607,716 (GRCm39) |
missense |
probably benign |
|
R1730:Lax1
|
UTSW |
1 |
133,608,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Lax1
|
UTSW |
1 |
133,611,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Lax1
|
UTSW |
1 |
133,607,716 (GRCm39) |
missense |
probably benign |
|
R1739:Lax1
|
UTSW |
1 |
133,608,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Lax1
|
UTSW |
1 |
133,607,716 (GRCm39) |
missense |
probably benign |
|
R1762:Lax1
|
UTSW |
1 |
133,608,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Lax1
|
UTSW |
1 |
133,611,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Lax1
|
UTSW |
1 |
133,611,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Lax1
|
UTSW |
1 |
133,608,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Lax1
|
UTSW |
1 |
133,607,716 (GRCm39) |
missense |
probably benign |
|
R1784:Lax1
|
UTSW |
1 |
133,611,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1784:Lax1
|
UTSW |
1 |
133,608,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Lax1
|
UTSW |
1 |
133,607,716 (GRCm39) |
missense |
probably benign |
|
R1785:Lax1
|
UTSW |
1 |
133,611,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1785:Lax1
|
UTSW |
1 |
133,608,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Lax1
|
UTSW |
1 |
133,607,716 (GRCm39) |
missense |
probably benign |
|
R2254:Lax1
|
UTSW |
1 |
133,607,971 (GRCm39) |
missense |
probably damaging |
0.99 |
R2906:Lax1
|
UTSW |
1 |
133,616,643 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R2912:Lax1
|
UTSW |
1 |
133,611,791 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5234:Lax1
|
UTSW |
1 |
133,608,321 (GRCm39) |
missense |
probably benign |
0.02 |
R5686:Lax1
|
UTSW |
1 |
133,607,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5695:Lax1
|
UTSW |
1 |
133,608,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R6003:Lax1
|
UTSW |
1 |
133,611,834 (GRCm39) |
missense |
probably benign |
0.24 |
R6362:Lax1
|
UTSW |
1 |
133,608,334 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6493:Lax1
|
UTSW |
1 |
133,607,530 (GRCm39) |
missense |
probably benign |
|
R6494:Lax1
|
UTSW |
1 |
133,608,186 (GRCm39) |
missense |
probably damaging |
0.99 |
R6932:Lax1
|
UTSW |
1 |
133,607,896 (GRCm39) |
missense |
probably benign |
0.39 |
R7938:Lax1
|
UTSW |
1 |
133,607,896 (GRCm39) |
missense |
probably benign |
0.00 |
R8054:Lax1
|
UTSW |
1 |
133,611,345 (GRCm39) |
missense |
probably benign |
0.00 |
R8476:Lax1
|
UTSW |
1 |
133,611,326 (GRCm39) |
missense |
probably benign |
0.00 |
R9201:Lax1
|
UTSW |
1 |
133,608,205 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9287:Lax1
|
UTSW |
1 |
133,607,931 (GRCm39) |
missense |
probably benign |
0.00 |
R9416:Lax1
|
UTSW |
1 |
133,611,752 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAATGTAGGAAGTTGGGCAG -3'
(R):5'- AGACCATGATGCCAGCATTG -3'
Sequencing Primer
(F):5'- GGATGTGTGCCAAATGCCACTTATAG -3'
(R):5'- CAGGCATGCCCTAGAATGTGTTC -3'
|
Posted On |
2015-04-30 |