Incidental Mutation 'IGL01588:Ly96'
ID 91500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ly96
Ensembl Gene ENSMUSG00000025779
Gene Name lymphocyte antigen 96
Synonyms myeloid differentiation factor-2, ESOP-1, MD2, MD-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL01588
Quality Score
Status
Chromosome 1
Chromosomal Location 16758680-16779829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16779678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 116 (V116I)
Ref Sequence ENSEMBL: ENSMUSP00000140411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026881] [ENSMUST00000190366]
AlphaFold Q9JHF9
Predicted Effect probably benign
Transcript: ENSMUST00000026881
AA Change: V134I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000026881
Gene: ENSMUSG00000025779
AA Change: V134I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
ML 34 153 7.82e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190366
AA Change: V116I

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140411
Gene: ENSMUSG00000025779
AA Change: V116I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:E1_DerP2_DerF2 66 137 1.8e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired responsiveness to LPS, are resistant to LPS-induced lethal toxicity but show increased susceptibility to Salmonella typhimurium infection. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T A 1: 139,405,900 (GRCm39) S1596T probably benign Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Csn2 T C 5: 87,842,508 (GRCm39) H165R probably benign Het
Dido1 A G 2: 180,330,668 (GRCm39) V260A probably benign Het
Ece1 C T 4: 137,684,517 (GRCm39) probably benign Het
Garem1 T G 18: 21,262,854 (GRCm39) R653S probably damaging Het
Gpatch2 A T 1: 186,962,991 (GRCm39) S261C probably damaging Het
Ing4 A G 6: 125,020,949 (GRCm39) N24D possibly damaging Het
Klhdc7a A T 4: 139,694,257 (GRCm39) V230D probably damaging Het
Myom1 C T 17: 71,424,432 (GRCm39) T1427M possibly damaging Het
Nedd1 C A 10: 92,522,124 (GRCm39) V638L probably benign Het
Or52d3 C T 7: 104,229,150 (GRCm39) S99F probably damaging Het
Or5d35 T C 2: 87,855,417 (GRCm39) V117A probably benign Het
Or8g30 G A 9: 39,230,128 (GRCm39) Q261* probably null Het
Pbx2 T C 17: 34,814,592 (GRCm39) probably benign Het
Phlpp1 A T 1: 106,308,119 (GRCm39) H1132L probably damaging Het
Plpp5 T A 8: 26,214,195 (GRCm39) H237Q probably damaging Het
Stard13 C T 5: 150,968,702 (GRCm39) R856H probably damaging Het
Sult1e1 T C 5: 87,724,102 (GRCm39) K285R probably benign Het
Ubxn8 C T 8: 34,111,587 (GRCm39) V269M probably damaging Het
Usp29 A T 7: 6,965,610 (GRCm39) K484N probably benign Het
Whrn C T 4: 63,391,015 (GRCm39) V80M probably damaging Het
Znhit6 A G 3: 145,301,962 (GRCm39) probably benign Het
Other mutations in Ly96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Ly96 APN 1 16,776,452 (GRCm39) splice site probably null
pique UTSW 1 16,761,940 (GRCm39) nonsense probably null
H8562:Ly96 UTSW 1 16,761,918 (GRCm39) missense probably damaging 1.00
R1186:Ly96 UTSW 1 16,771,118 (GRCm39) missense possibly damaging 0.90
R1751:Ly96 UTSW 1 16,776,399 (GRCm39) missense probably benign 0.00
R1767:Ly96 UTSW 1 16,776,399 (GRCm39) missense probably benign 0.00
R4645:Ly96 UTSW 1 16,761,940 (GRCm39) nonsense probably null
R5189:Ly96 UTSW 1 16,771,091 (GRCm39) missense probably damaging 1.00
R5470:Ly96 UTSW 1 16,779,710 (GRCm39) missense probably benign 0.16
R7031:Ly96 UTSW 1 16,758,787 (GRCm39) missense possibly damaging 0.58
Posted On 2013-12-09