Incidental Mutation 'IGL01895:Lypd8'
ID179353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lypd8
Ensembl Gene ENSMUSG00000013643
Gene NameLY6/PLAUR domain containing 8
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL01895
Quality Score
Status
Chromosome11
Chromosomal Location58379043-58390728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58390220 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 203 (T203A)
Ref Sequence ENSEMBL: ENSMUSP00000104454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013787] [ENSMUST00000108826]
Predicted Effect possibly damaging
Transcript: ENSMUST00000013787
AA Change: T203A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000013787
Gene: ENSMUSG00000013643
AA Change: T203A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UPAR_LY6 23 105 3.4e-5 PFAM
Pfam:UPAR_LY6 121 197 2.3e-5 PFAM
low complexity region 199 212 N/A INTRINSIC
low complexity region 248 254 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108826
AA Change: T203A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104454
Gene: ENSMUSG00000013643
AA Change: T203A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UPAR_LY6 23 105 1.9e-4 PFAM
Pfam:UPAR_LY6 121 197 4.9e-5 PFAM
low complexity region 199 212 N/A INTRINSIC
low complexity region 248 254 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117893
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Ly6/PLAUR family of cysteine-rich proteins that plays an important role in the protection of colonic epithelium from flagellated microbiota. The encoded protein undergoes proteolytic processing to generate a mature, glycosylphosphatidylinositol-anchored protein that is localized to the apical surface of the colonic epithelial cells. Mice lacking the encoded protein are sensitive to chemically induced intestinal inflammation. [provided by RefSeq, Aug 2016]
PHENOTYPE: No notable phenotype was detected in a high throughput screen of homozygous mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,229,107 V2279E possibly damaging Het
Abcc6 A T 7: 46,029,058 I56N possibly damaging Het
Akr1c13 A T 13: 4,205,373 E321V possibly damaging Het
Atp8b3 A T 10: 80,521,828 V1119D possibly damaging Het
Cacna1e G T 1: 154,443,900 F1351L probably damaging Het
Cadps2 A G 6: 23,427,275 W585R probably damaging Het
Ccdc113 C T 8: 95,536,458 probably benign Het
Ccer1 A T 10: 97,694,050 I192F unknown Het
Chd8 T C 14: 52,199,094 N90S probably benign Het
Clca3a1 A T 3: 144,747,572 C463* probably null Het
Cyp2c65 T A 19: 39,072,232 C179S possibly damaging Het
Dennd4b A G 3: 90,275,567 Q35R probably benign Het
Enpep T C 3: 129,270,334 E928G possibly damaging Het
Fem1c T C 18: 46,505,562 T458A probably benign Het
Fezf2 A T 14: 12,342,498 *456R probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14085 A C 2: 122,525,091 Y588S possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Iqcm T G 8: 75,888,560 L423R probably damaging Het
Kcnc4 C A 3: 107,448,218 V305L probably benign Het
Kif1a G A 1: 93,025,733 T1337I possibly damaging Het
Lpxn A G 19: 12,833,086 D298G probably damaging Het
Mrps28 C T 3: 8,900,059 V107M probably damaging Het
Myo15b A G 11: 115,883,498 E586G possibly damaging Het
Pdzk1 C T 3: 96,869,101 A459V possibly damaging Het
Rbpj A G 5: 53,651,386 D285G probably damaging Het
Rimbp3 T C 16: 17,211,436 L908P probably damaging Het
Samd4b T C 7: 28,401,909 probably null Het
Stau2 C T 1: 16,345,937 G401S probably damaging Het
Trpa1 A T 1: 14,887,643 I697K possibly damaging Het
Ttc17 A C 2: 94,375,146 V285G possibly damaging Het
Unc5b A G 10: 60,767,085 F845S probably damaging Het
Vmn1r19 A T 6: 57,405,260 Q266L probably benign Het
Vmn2r106 T C 17: 20,278,965 N228S probably benign Het
Vps13d A G 4: 145,156,266 F919S possibly damaging Het
Zbtb38 C T 9: 96,688,408 V208I probably benign Het
Zfp990 A T 4: 145,536,857 T142S probably damaging Het
Zfp990 C A 4: 145,536,858 T142N probably damaging Het
Other mutations in Lypd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
confusion UTSW 11 58386757 missense probably benign 0.00
quandary UTSW 11 58384613 missense probably damaging 1.00
R0096:Lypd8 UTSW 11 58386757 missense probably benign 0.00
R0628:Lypd8 UTSW 11 58384673 missense probably damaging 1.00
R0711:Lypd8 UTSW 11 58386757 missense probably benign 0.00
R2294:Lypd8 UTSW 11 58386854 missense probably damaging 0.99
R3033:Lypd8 UTSW 11 58384627 missense probably damaging 0.99
R4562:Lypd8 UTSW 11 58382389 critical splice donor site probably null
R4610:Lypd8 UTSW 11 58386849 missense probably benign 0.00
R5224:Lypd8 UTSW 11 58386808 missense possibly damaging 0.93
R5468:Lypd8 UTSW 11 58386760 missense probably damaging 0.96
R6213:Lypd8 UTSW 11 58390334 missense probably benign
R6228:Lypd8 UTSW 11 58386803 missense possibly damaging 0.60
R6528:Lypd8 UTSW 11 58384613 missense probably damaging 1.00
R6947:Lypd8 UTSW 11 58382766 missense probably benign 0.00
R7811:Lypd8 UTSW 11 58390238 missense possibly damaging 0.53
RF018:Lypd8 UTSW 11 58390232 small insertion probably benign
RF028:Lypd8 UTSW 11 58390239 small insertion probably benign
RF039:Lypd8 UTSW 11 58390231 small insertion probably benign
RF042:Lypd8 UTSW 11 58390243 small insertion probably benign
RF043:Lypd8 UTSW 11 58390243 small insertion probably benign
RF054:Lypd8 UTSW 11 58390251 small insertion probably benign
RF057:Lypd8 UTSW 11 58390239 small insertion probably benign
Z1088:Lypd8 UTSW 11 58386730 missense possibly damaging 0.92
Posted On2014-05-07