Incidental Mutation 'R2906:Lax1'
ID |
261639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lax1
|
Ensembl Gene |
ENSMUSG00000051998 |
Gene Name |
lymphocyte transmembrane adaptor 1 |
Synonyms |
E430019B13Rik |
MMRRC Submission |
040493-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R2906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133606829-133617846 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 133616643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169295]
[ENSMUST00000189524]
|
AlphaFold |
Q8BHB3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000169295
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000131126 Gene: ENSMUSG00000051998 AA Change: M1K
Domain | Start | End | E-Value | Type |
Pfam:LAX
|
27 |
378 |
2.4e-172 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189524
AA Change: M1K
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (37/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,308,694 (GRCm39) |
I800T |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,573,292 (GRCm39) |
T170M |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,871,850 (GRCm39) |
T432A |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,696,267 (GRCm39) |
|
probably benign |
Het |
Ddx4 |
G |
T |
13: 112,757,311 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Duoxa1 |
C |
T |
2: 122,135,155 (GRCm39) |
V197M |
probably benign |
Het |
Gm6430 |
A |
T |
1: 96,952,554 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2a1l |
G |
A |
17: 89,002,083 (GRCm39) |
R313H |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Lce1k |
T |
C |
3: 92,713,882 (GRCm39) |
S101G |
unknown |
Het |
Med12l |
T |
C |
3: 59,164,503 (GRCm39) |
L1365P |
probably damaging |
Het |
Mtx2 |
T |
C |
2: 74,697,253 (GRCm39) |
S83P |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,504 (GRCm39) |
C511G |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,890,216 (GRCm39) |
I801T |
probably benign |
Het |
Or8g24 |
A |
G |
9: 38,989,669 (GRCm39) |
V124A |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,010,823 (GRCm39) |
I248V |
probably benign |
Het |
Pcdhgb2 |
A |
T |
18: 37,823,908 (GRCm39) |
I300F |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,992,272 (GRCm39) |
A1285V |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,250,297 (GRCm39) |
L172P |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Rpusd1 |
T |
C |
17: 25,949,705 (GRCm39) |
S292P |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,351,146 (GRCm39) |
V172A |
probably damaging |
Het |
Snx25 |
T |
C |
8: 46,502,560 (GRCm39) |
|
probably null |
Het |
Tmprss11g |
A |
G |
5: 86,640,661 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
G |
C |
6: 113,369,471 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Usp45 |
T |
A |
4: 21,834,338 (GRCm39) |
Y805* |
probably null |
Het |
Zfp639 |
T |
C |
3: 32,573,900 (GRCm39) |
L175P |
probably damaging |
Het |
Zfp995 |
T |
C |
17: 22,099,247 (GRCm39) |
D329G |
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 |
R2912:Lax1
|
UTSW |
1 |
133,611,791 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4022:Lax1
|
UTSW |
1 |
133,610,774 (GRCm39) |
missense |
probably benign |
0.20 |
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'- TTGCTCATCTTGGTGGACCC -3'
(R):5'- TGTGAGAACCTTGGTGAATATGATC -3'
Sequencing Primer
(F):5'- TCATCTTGGTGGACCCAGGTC -3'
(R):5'- AGAACCACCTTCATGAGTGCGG -3'
|
Posted On |
2015-01-23 |