Incidental Mutation 'IGL02297:Lynx1'
ID290210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lynx1
Ensembl Gene ENSMUSG00000022594
Gene NameLy6/neurotoxin 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02297
Quality Score
Status
Chromosome15
Chromosomal Location74747852-74753046 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 74751642 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 19 (Q19K)
Ref Sequence ENSEMBL: ENSMUSP00000139494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023259] [ENSMUST00000057932] [ENSMUST00000189128]
Predicted Effect probably benign
Transcript: ENSMUST00000023259
AA Change: Q19K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023259
Gene: ENSMUSG00000022594
AA Change: Q19K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LU 21 104 4.78e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057932
SMART Domains Protein: ENSMUSP00000051457
Gene: ENSMUSG00000075605

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
LU 23 95 4.44e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189128
AA Change: Q19K

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189696
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 member of the Ly-6/neurotoxin gene family, a group of lymphocyte antigens that attach to the cell surface by a glycosylphosphatidylinositol anchor and have a unique structure showing conserved 8-10 cysteine residues with a characteristic spacing pattern. Functional analysis indicates that this protein is not a ligand or neurotransmitter but has the capacity to enhance nicotinic acetylcholine receptor function in the presence of acetylcholine. This gene may also play a role in the pathogenesis of psoriasis vulgaris. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to nicotine, neurodegeneration, brain vacuoles amd improved cue-conditioned learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm2 C T 10: 61,735,548 A287V possibly damaging Het
Aqr A G 2: 114,150,481 I273T probably benign Het
Arid3c T C 4: 41,730,021 E58G possibly damaging Het
Col5a3 G T 9: 20,772,154 T1574K unknown Het
Dbh T C 2: 27,177,736 V457A probably benign Het
Gm12888 T C 4: 121,324,799 E32G probably damaging Het
Gnaq A G 19: 16,378,251 D277G probably damaging Het
Il20 G A 1: 130,908,408 H133Y probably damaging Het
Itpr1 T A 6: 108,339,517 F58L possibly damaging Het
Lyst G T 13: 13,638,092 E1030* probably null Het
Matn1 T A 4: 130,952,264 probably benign Het
Nav2 A T 7: 49,594,229 N2068I probably damaging Het
Olfr1469 C T 19: 13,411,475 T302I probably benign Het
Olfr948 T C 9: 39,318,703 I304V possibly damaging Het
Slc25a23 G T 17: 57,053,324 Q273K probably benign Het
Slco4a1 T G 2: 180,464,489 C155G probably benign Het
Txnip T C 3: 96,558,357 V41A probably damaging Het
Wnt16 C A 6: 22,297,991 Y285* probably null Het
Other mutations in Lynx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2512:Lynx1 UTSW 15 74751320 missense probably damaging 1.00
R3926:Lynx1 UTSW 15 74751356 missense probably damaging 1.00
R5463:Lynx1 UTSW 15 74751613 nonsense probably null
R5982:Lynx1 UTSW 15 74751415 missense possibly damaging 0.88
R6375:Lynx1 UTSW 15 74751319 missense probably damaging 1.00
Posted On2015-04-16