Incidental Mutation 'IGL02449:Lax1'
| ID |
294076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lax1
|
| Ensembl Gene |
ENSMUSG00000051998 |
| Gene Name |
lymphocyte transmembrane adaptor 1 |
| Synonyms |
E430019B13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL02449
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
133606829-133617846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133607874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 289
(V289A)
|
| 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: V289A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131126
Gene: ENSMUSG00000051998
AA Change: V289A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAX
|
27 |
378 |
2.4e-172 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189524
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,440,908 (GRCm39) |
|
probably null |
Het |
| Akap6 |
A |
G |
12: 53,186,971 (GRCm39) |
T1462A |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,538 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
A |
T |
10: 50,576,695 (GRCm39) |
Q883H |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,807,358 (GRCm39) |
|
probably null |
Het |
| Cds1 |
G |
A |
5: 101,963,794 (GRCm39) |
G371D |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,548,751 (GRCm39) |
L2198P |
probably damaging |
Het |
| Cyp2d22 |
C |
T |
15: 82,257,442 (GRCm39) |
G241D |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,867,584 (GRCm39) |
|
probably benign |
Het |
| Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,894,234 (GRCm39) |
V186A |
probably benign |
Het |
| Gm9637 |
T |
A |
14: 19,402,436 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr180 |
T |
C |
14: 118,397,532 (GRCm39) |
L342P |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,559,095 (GRCm39) |
|
probably null |
Het |
| Kcnab2 |
C |
A |
4: 152,496,441 (GRCm39) |
|
probably null |
Het |
| Ly6k |
T |
G |
15: 74,668,934 (GRCm39) |
D115A |
probably benign |
Het |
| Mcc |
A |
C |
18: 44,593,025 (GRCm39) |
I670S |
probably benign |
Het |
| Mpdz |
C |
A |
4: 81,247,659 (GRCm39) |
|
probably null |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,431 (GRCm39) |
L34* |
probably null |
Het |
| Mtor |
T |
A |
4: 148,618,378 (GRCm39) |
H1730Q |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,503 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,185,440 (GRCm39) |
|
probably null |
Het |
| Naip5 |
A |
T |
13: 100,358,683 (GRCm39) |
V851E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,091,918 (GRCm39) |
I1277V |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,264,396 (GRCm39) |
M683T |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,646,641 (GRCm39) |
Y663C |
probably damaging |
Het |
| Padi3 |
C |
T |
4: 140,517,023 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
G |
5: 14,565,357 (GRCm39) |
D41G |
probably damaging |
Het |
| Pds5a |
A |
T |
5: 65,776,353 (GRCm39) |
N80K |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,070,963 (GRCm39) |
D812N |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,418,333 (GRCm39) |
|
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,965,380 (GRCm39) |
L322I |
possibly damaging |
Het |
| Ptprv |
T |
C |
1: 135,039,074 (GRCm39) |
|
noncoding transcript |
Het |
| Scn2b |
A |
G |
9: 45,036,812 (GRCm39) |
K107E |
probably damaging |
Het |
| Slc24a4 |
A |
C |
12: 102,193,341 (GRCm39) |
I226L |
probably benign |
Het |
| Spink4 |
A |
G |
4: 40,929,190 (GRCm39) |
M72V |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,411,263 (GRCm39) |
M676K |
possibly damaging |
Het |
| Svep1 |
A |
C |
4: 58,070,296 (GRCm39) |
C2497G |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,449 (GRCm39) |
T2362S |
probably damaging |
Het |
| Tgm3 |
G |
T |
2: 129,880,529 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
A |
1: 14,968,381 (GRCm39) |
T462S |
probably damaging |
Het |
| Ucp2 |
G |
A |
7: 100,148,017 (GRCm39) |
V237M |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,316,288 (GRCm39) |
L510F |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,387,589 (GRCm39) |
T4874M |
unknown |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp974 |
T |
A |
7: 27,611,152 (GRCm39) |
Y191F |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation