Incidental Mutation 'IGL02359:Lax1'
ID290419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lax1
Ensembl Gene ENSMUSG00000051998
Gene Namelymphocyte transmembrane adaptor 1
SynonymsE430019B13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02359
Quality Score
Status
Chromosome1
Chromosomal Location133679091-133690108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133680470 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 178 (S178T)
Ref Sequence ENSEMBL: ENSMUSP00000131126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169295] [ENSMUST00000189524]
Predicted Effect possibly damaging
Transcript: ENSMUST00000169295
AA Change: S178T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131126
Gene: ENSMUSG00000051998
AA Change: S178T

DomainStartEndE-ValueType
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,895,055 probably null Het
Abca5 T A 11: 110,275,330 N1540I probably benign Het
Adamtsl5 T A 10: 80,343,728 probably null Het
Aldh2 T C 5: 121,575,897 E128G probably null Het
Ano3 A T 2: 110,884,943 L50* probably null Het
Atp13a3 A G 16: 30,351,084 I392T probably damaging Het
C1qtnf5 A G 9: 44,108,334 E85G possibly damaging Het
Cacna1s A T 1: 136,093,252 probably benign Het
Ccdc150 G A 1: 54,272,521 R222H probably benign Het
Cep55 T A 19: 38,069,868 I303N probably damaging Het
Cmip A T 8: 117,411,255 probably benign Het
Cyp21a1 A G 17: 34,804,222 Y60H probably damaging Het
Cyp2d11 A G 15: 82,393,920 W10R possibly damaging Het
Dock10 A G 1: 80,505,661 Y2076H probably damaging Het
Egflam T C 15: 7,234,225 N748S probably benign Het
Fam227b A G 2: 126,146,254 probably benign Het
Fancd2 T A 6: 113,563,112 I654N probably damaging Het
Gm17018 G T 19: 45,577,054 A156S probably benign Het
Gm17727 A T 9: 35,777,884 M1K probably null Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Hrh1 C A 6: 114,480,443 N228K probably benign Het
Igkv3-2 T C 6: 70,698,490 L8P probably damaging Het
Iqgap3 T C 3: 88,101,960 F734L probably benign Het
Kif5a T C 10: 127,243,501 Y276C probably damaging Het
March6 C T 15: 31,509,759 C28Y probably damaging Het
Mylk3 T C 8: 85,355,302 T356A probably benign Het
Olfr166 T C 16: 19,487,177 L113P probably damaging Het
Pgap2 G T 7: 102,236,139 V71F probably damaging Het
Prob1 T G 18: 35,652,840 E787A possibly damaging Het
Psmd2 C A 16: 20,656,941 D430E probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpinb9e A T 13: 33,257,820 probably benign Het
Sgsm2 G T 11: 74,892,074 probably benign Het
Slc38a9 A G 13: 112,690,186 I153V probably benign Het
Slco1b2 T A 6: 141,685,525 D628E probably damaging Het
Sult2a5 T C 7: 13,628,802 S145P probably benign Het
Sv2b T C 7: 75,136,449 T408A probably benign Het
Usp24 T C 4: 106,403,925 C1626R probably damaging Het
Wdr43 C T 17: 71,632,048 T217M possibly damaging Het
Wdr95 G A 5: 149,580,619 V155M probably damaging Het
Wsb1 G A 11: 79,251,012 L60F probably damaging Het
Wwp2 C T 8: 107,540,646 R297* probably null Het
Xkr6 T C 14: 63,819,707 Y356H unknown Het
Other mutations in Lax1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Lax1 APN 1 133680399 missense probably benign 0.09
IGL01568:Lax1 APN 1 133680300 missense probably benign 0.00
IGL02352:Lax1 APN 1 133680470 missense possibly damaging 0.95
IGL02449:Lax1 APN 1 133680136 missense probably damaging 0.98
yon UTSW 1 133683036 missense probably benign 0.20
R0391:Lax1 UTSW 1 133680066 missense probably benign 0.24
R1728:Lax1 UTSW 1 133679978 missense probably benign
R1728:Lax1 UTSW 1 133680569 missense probably benign 0.00
R1728:Lax1 UTSW 1 133683634 missense probably damaging 1.00
R1729:Lax1 UTSW 1 133679978 missense probably benign
R1729:Lax1 UTSW 1 133680569 missense probably benign 0.00
R1729:Lax1 UTSW 1 133683634 missense probably damaging 1.00
R1730:Lax1 UTSW 1 133679978 missense probably benign
R1730:Lax1 UTSW 1 133680569 missense probably benign 0.00
R1730:Lax1 UTSW 1 133683634 missense probably damaging 1.00
R1739:Lax1 UTSW 1 133679978 missense probably benign
R1739:Lax1 UTSW 1 133680569 missense probably benign 0.00
R1739:Lax1 UTSW 1 133683634 missense probably damaging 1.00
R1762:Lax1 UTSW 1 133679978 missense probably benign
R1762:Lax1 UTSW 1 133680569 missense probably benign 0.00
R1762:Lax1 UTSW 1 133683634 missense probably damaging 1.00
R1783:Lax1 UTSW 1 133679978 missense probably benign
R1783:Lax1 UTSW 1 133680569 missense probably benign 0.00
R1783:Lax1 UTSW 1 133683634 missense probably damaging 1.00
R1784:Lax1 UTSW 1 133679978 missense probably benign
R1784:Lax1 UTSW 1 133680569 missense probably benign 0.00
R1784:Lax1 UTSW 1 133683634 missense probably damaging 1.00
R1785:Lax1 UTSW 1 133679978 missense probably benign
R1785:Lax1 UTSW 1 133680569 missense probably benign 0.00
R1785:Lax1 UTSW 1 133683634 missense probably damaging 1.00
R2254:Lax1 UTSW 1 133680233 missense probably damaging 0.99
R2906:Lax1 UTSW 1 133688905 start codon destroyed probably null 0.53
R2912:Lax1 UTSW 1 133684053 missense possibly damaging 0.77
R4022:Lax1 UTSW 1 133683036 missense probably benign 0.20
R5234:Lax1 UTSW 1 133680583 missense probably benign 0.02
R5686:Lax1 UTSW 1 133680176 missense probably damaging 1.00
R5695:Lax1 UTSW 1 133680578 missense probably damaging 1.00
R6003:Lax1 UTSW 1 133684096 missense probably benign 0.24
R6362:Lax1 UTSW 1 133680596 missense possibly damaging 0.92
R6493:Lax1 UTSW 1 133679792 missense probably benign
R6494:Lax1 UTSW 1 133680448 missense probably damaging 0.99
R6932:Lax1 UTSW 1 133680158 missense probably benign 0.39
R7938:Lax1 UTSW 1 133680158 missense probably benign 0.00
R8054:Lax1 UTSW 1 133683607 missense probably benign 0.00
Posted On2015-04-16