Incidental Mutation 'R6494:Lax1'
| ID |
522912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lax1
|
| Ensembl Gene |
ENSMUSG00000051998 |
| Gene Name |
lymphocyte transmembrane adaptor 1 |
| Synonyms |
E430019B13Rik |
| MMRRC Submission |
044626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R6494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133606829-133617846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133608186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 185
(Y185F)
|
| 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: Y185F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131126
Gene: ENSMUSG00000051998
AA Change: Y185F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAX
|
27 |
378 |
2.4e-172 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189524
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,315,774 (GRCm39) |
L52P |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chic2 |
T |
C |
5: 75,204,943 (GRCm39) |
E6G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Col5a2 |
C |
A |
1: 45,417,487 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,709 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,138,591 (GRCm39) |
Y211F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,990,845 (GRCm39) |
Y5460F |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,928,523 (GRCm39) |
|
probably null |
Het |
| Eno4 |
T |
A |
19: 58,951,226 (GRCm39) |
Y237N |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,887,390 (GRCm39) |
D602V |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,800,280 (GRCm39) |
N337S |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,907,423 (GRCm39) |
R3203C |
possibly damaging |
Het |
| Gbp2 |
T |
A |
3: 142,337,769 (GRCm39) |
V295E |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,765,745 (GRCm39) |
I366M |
possibly damaging |
Het |
| Itsn2 |
C |
T |
12: 4,684,792 (GRCm39) |
R448* |
probably null |
Het |
| Klhl35 |
G |
T |
7: 99,122,106 (GRCm39) |
W69L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,072,474 (GRCm39) |
I154V |
probably benign |
Het |
| Mmp12 |
C |
T |
9: 7,353,479 (GRCm39) |
P208L |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,744 (GRCm39) |
V33M |
probably null |
Het |
| Nptn |
T |
G |
9: 58,531,035 (GRCm39) |
C169G |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,885,671 (GRCm39) |
E766V |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,520 (GRCm39) |
N149I |
possibly damaging |
Het |
| Or12e14 |
A |
T |
2: 87,187,976 (GRCm39) |
K63* |
probably null |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,509,429 (GRCm39) |
N721S |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,472,588 (GRCm39) |
W1590R |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 47,222,007 (GRCm39) |
T129A |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,359,640 (GRCm39) |
K403N |
probably benign |
Het |
| Rbck1 |
T |
C |
2: 152,172,886 (GRCm39) |
D54G |
possibly damaging |
Het |
| Serpinb7 |
T |
A |
1: 107,363,076 (GRCm39) |
L80* |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,639,863 (GRCm39) |
Y676F |
probably benign |
Het |
| Skint1 |
G |
T |
4: 111,867,909 (GRCm39) |
C12F |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,779,651 (GRCm39) |
D55V |
probably damaging |
Het |
| Slc9a8 |
G |
A |
2: 167,266,211 (GRCm39) |
V63I |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,705,246 (GRCm39) |
S228T |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,924 (GRCm39) |
N419S |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,943,706 (GRCm39) |
S149P |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 53,986,725 (GRCm39) |
S45T |
probably benign |
Het |
| Tsacc |
T |
C |
3: 88,202,703 (GRCm39) |
E11G |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,461,666 (GRCm39) |
A104T |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp108 |
T |
A |
7: 23,960,782 (GRCm39) |
F458I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,976,018 (GRCm39) |
K762N |
probably damaging |
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 |
|
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 |
|
|
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'- ATCACTGCACTTGGGTCCTG -3'
(R):5'- TGTGAGCCTCTGACTTGGAG -3'
Sequencing Primer
(F):5'- GGGTCCTGGAGCCCAAAAAC -3'
(R):5'- CAAGCCAATGGTTCCCTTCAGATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation