Incidental Mutation 'R5695:Lax1'
| ID |
443850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lax1
|
| Ensembl Gene |
ENSMUSG00000051998 |
| Gene Name |
lymphocyte transmembrane adaptor 1 |
| Synonyms |
E430019B13Rik |
| MMRRC Submission |
043326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R5695 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133606829-133617846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 133608316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 142
(Y142N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169295]
[ENSMUST00000189524]
|
| AlphaFold |
Q8BHB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169295
AA Change: Y142N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131126
Gene: ENSMUSG00000051998
AA Change: Y142N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAX
|
27 |
378 |
2.4e-172 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000189524
AA Change: S48R
|
| Meta Mutation Damage Score |
0.6096 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
A |
12: 84,660,745 (GRCm39) |
H116L |
probably damaging |
Het |
| Anapc4 |
C |
T |
5: 53,019,581 (GRCm39) |
S581L |
probably benign |
Het |
| Ano8 |
A |
C |
8: 71,935,887 (GRCm39) |
D276E |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,784,843 (GRCm39) |
G184S |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,930,137 (GRCm39) |
D152G |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,943,078 (GRCm39) |
|
probably null |
Het |
| Cgn |
G |
A |
3: 94,680,945 (GRCm39) |
A531V |
probably benign |
Het |
| Cmya5 |
C |
A |
13: 93,182,374 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,935,769 (GRCm39) |
S365P |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,056,330 (GRCm39) |
Q372R |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,124 (GRCm39) |
E276V |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,890,744 (GRCm39) |
|
probably null |
Het |
| Enpep |
C |
T |
3: 129,102,748 (GRCm39) |
D403N |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,530,806 (GRCm39) |
E550G |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,346 (GRCm39) |
D377G |
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,437,619 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,439,210 (GRCm39) |
G481V |
probably damaging |
Het |
| Fank1 |
A |
G |
7: 133,471,075 (GRCm39) |
Y156C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,203 (GRCm39) |
D3869G |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,071,675 (GRCm39) |
D106G |
probably benign |
Het |
| Gm20830 |
A |
T |
Y: 6,916,501 (GRCm39) |
V206E |
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,691 (GRCm39) |
V228A |
possibly damaging |
Het |
| Gon4l |
TGAGCA |
TGAGCAGAGCA |
3: 88,803,523 (GRCm39) |
|
probably null |
Het |
| Gtpbp1 |
G |
A |
15: 79,596,375 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
T |
1: 192,399,327 (GRCm39) |
M271K |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,810 (GRCm39) |
M153K |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,261,915 (GRCm39) |
H2672L |
probably benign |
Het |
| Igfbpl1 |
A |
T |
4: 45,826,374 (GRCm39) |
D140E |
probably damaging |
Het |
| Kctd1 |
T |
G |
18: 15,196,573 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
C |
T |
17: 71,551,798 (GRCm39) |
R733C |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,556 (GRCm39) |
L144P |
possibly damaging |
Het |
| Nup214 |
C |
A |
2: 31,924,385 (GRCm39) |
T1638K |
probably damaging |
Het |
| Nyap1 |
C |
T |
5: 137,733,246 (GRCm39) |
A596T |
probably damaging |
Het |
| Oas1d |
T |
C |
5: 121,053,074 (GRCm39) |
M43T |
probably benign |
Het |
| Or4l15 |
T |
C |
14: 50,198,080 (GRCm39) |
T150A |
probably benign |
Het |
| Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
| Or8b42 |
A |
G |
9: 38,342,472 (GRCm39) |
H298R |
probably benign |
Het |
| Pacs1 |
A |
G |
19: 5,186,819 (GRCm39) |
F851S |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,683,800 (GRCm39) |
Q89R |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,378 (GRCm39) |
|
probably benign |
Het |
| Plekhb1 |
A |
T |
7: 100,304,602 (GRCm39) |
I34N |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,175,397 (GRCm39) |
E1800G |
probably damaging |
Het |
| Rbm33 |
A |
T |
5: 28,544,010 (GRCm39) |
I89F |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,560,531 (GRCm39) |
E436V |
probably damaging |
Het |
| Slc2a4 |
G |
T |
11: 69,837,217 (GRCm39) |
P73Q |
probably damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,245,912 (GRCm39) |
T311S |
probably benign |
Het |
| Sulf2 |
G |
A |
2: 165,974,678 (GRCm39) |
A2V |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,411,601 (GRCm39) |
|
probably null |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,738 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn2r39 |
T |
A |
7: 9,028,150 (GRCm39) |
H407L |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,225,064 (GRCm39) |
Y482F |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,973,655 (GRCm39) |
E376G |
probably benign |
Het |
| Wrn |
C |
A |
8: 33,814,346 (GRCm39) |
G366V |
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 |
|
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 |
|
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'- AGAGTCTCACAGGTGTCCTC -3'
(R):5'- AGGCCCAACATTGCTTTTCTG -3'
Sequencing Primer
(F):5'- AGAGTCTCACAGGTGTCCTCTACTG -3'
(R):5'- TCCTCCAGACATACCGGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation