Incidental Mutation 'IGL01419:Ly6g5b'
ID80349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ly6g5b
Ensembl Gene ENSMUSG00000043807
Gene Namelymphocyte antigen 6 complex, locus G5B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01419
Quality Score
Status
Chromosome17
Chromosomal Location35113948-35115428 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35114518 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 106 (L106P)
Ref Sequence ENSEMBL: ENSMUSP00000138033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025246] [ENSMUST00000037849] [ENSMUST00000062657] [ENSMUST00000172765] [ENSMUST00000172854] [ENSMUST00000173114] [ENSMUST00000174024] [ENSMUST00000174306] [ENSMUST00000174779]
Predicted Effect probably benign
Transcript: ENSMUST00000025246
SMART Domains Protein: ENSMUSP00000025246
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 191 9.99e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000037849
SMART Domains Protein: ENSMUSP00000039151
Gene: ENSMUSG00000034482

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
Blast:LU 59 145 2e-31 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000062657
AA Change: L161P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000052133
Gene: ENSMUSG00000043807
AA Change: L161P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:CK_II_beta 21 115 1e-40 BLAST
Blast:CK_II_beta 125 170 3e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172765
SMART Domains Protein: ENSMUSP00000134523
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 29 206 6.86e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172854
AA Change: L106P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000138033
Gene: ENSMUSG00000043807
AA Change: L106P

DomainStartEndE-ValueType
Blast:CK_II_beta 1 60 2e-18 BLAST
Blast:CK_II_beta 70 115 1e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173114
SMART Domains Protein: ENSMUSP00000134218
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 191 9.99e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173189
Predicted Effect probably benign
Transcript: ENSMUST00000173633
SMART Domains Protein: ENSMUSP00000133826
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 2 91 1.28e-26 SMART
Blast:CK_II_beta 121 154 4e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174024
SMART Domains Protein: ENSMUSP00000134673
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 169 5.07e-71 SMART
Blast:CK_II_beta 189 220 6e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174306
SMART Domains Protein: ENSMUSP00000134413
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 122 3.01e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174779
SMART Domains Protein: ENSMUSP00000133684
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 1 140 2.47e-83 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,048,121 S1323P probably damaging Het
Abca2 A T 2: 25,437,514 T672S probably damaging Het
Adamts14 A T 10: 61,205,542 probably benign Het
Adgrv1 T C 13: 81,557,158 E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 R584G probably damaging Het
Apob A T 12: 8,002,251 I1218F probably damaging Het
Atp5a1 T C 18: 77,777,533 S52P probably damaging Het
B4galnt3 A G 6: 120,215,390 S462P possibly damaging Het
Bdkrb1 A G 12: 105,604,781 H202R possibly damaging Het
Cd300lf T C 11: 115,126,354 K48E probably benign Het
Chuk A T 19: 44,096,981 I242K probably damaging Het
Csde1 A G 3: 103,038,770 T27A probably damaging Het
D930048N14Rik C T 11: 51,654,776 probably benign Het
Depdc7 A T 2: 104,722,110 Y451N possibly damaging Het
Diaph3 C A 14: 86,965,553 G623* probably null Het
Dlc1 T C 8: 36,850,217 T435A probably benign Het
Dock8 A G 19: 25,119,452 S575G probably benign Het
Fbxw22 T A 9: 109,381,722 Y407F probably benign Het
Fzd4 C A 7: 89,407,735 A330E probably damaging Het
Gm17415 A G 1: 93,421,950 probably benign Het
Gm4788 T C 1: 139,739,644 probably null Het
Gnat1 C T 9: 107,679,434 probably null Het
Gtf3c4 T C 2: 28,835,069 Y76C probably damaging Het
Heatr5b G A 17: 78,796,510 H1079Y probably benign Het
Helz T G 11: 107,686,514 I1897S unknown Het
Hspa12a T C 19: 58,828,249 probably null Het
Kcne1 G T 16: 92,348,646 F103L probably benign Het
Lrrc20 A T 10: 61,548,095 S94C probably damaging Het
Lrrc8a A G 2: 30,257,099 T642A probably benign Het
Lyst A G 13: 13,635,838 S698G probably benign Het
Ndrg1 A G 15: 66,931,051 V334A probably benign Het
Neb A T 2: 52,226,533 Y964* probably null Het
Olfr1047 A T 2: 86,228,629 I114N possibly damaging Het
Olfr1230 T C 2: 89,296,345 probably benign Het
Parp10 A G 15: 76,241,388 F497L probably damaging Het
Pdss1 A G 2: 22,935,577 M343V possibly damaging Het
Phactr3 C T 2: 178,279,062 T231I probably benign Het
Plekhh2 A T 17: 84,583,552 probably benign Het
Ppp1r12c A C 7: 4,486,352 probably null Het
Prdm2 G T 4: 143,133,648 P1024H probably damaging Het
Prkacb A T 3: 146,755,693 M1K probably null Het
Prkdc C A 16: 15,835,166 P3835Q probably damaging Het
Rps27a T C 11: 29,546,353 T87A probably benign Het
Ryr2 T A 13: 11,799,837 E683V possibly damaging Het
Sbk2 A G 7: 4,957,529 L214P probably damaging Het
Sema4g A G 19: 44,997,396 S250G probably benign Het
Slc27a6 T A 18: 58,609,209 D498E probably benign Het
Tarbp1 T C 8: 126,428,155 D1410G probably benign Het
Tas2r134 T A 2: 51,627,747 Y79* probably null Het
Tie1 T C 4: 118,476,098 D857G probably damaging Het
Tnk2 A G 16: 32,680,680 N432S probably damaging Het
Tubg2 C A 11: 101,159,057 D176E probably benign Het
Ugt2b34 A T 5: 86,891,405 W466R probably damaging Het
Usp47 T A 7: 112,087,911 M692K possibly damaging Het
Vmn2r106 T C 17: 20,279,545 K143E probably benign Het
Vmn2r118 G A 17: 55,593,000 L635F probably benign Het
Vmn2r16 C T 5: 109,362,401 probably benign Het
Vmn2r76 A T 7: 86,225,702 M689K probably benign Het
Xkr6 T C 14: 63,818,876 Y79H probably benign Het
Zdhhc6 A G 19: 55,309,754 F224L probably benign Het
Zfp493 T G 13: 67,786,802 I291M probably benign Het
Other mutations in Ly6g5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0127:Ly6g5b UTSW 17 35114591 missense probably damaging 1.00
R1938:Ly6g5b UTSW 17 35114728 missense possibly damaging 0.50
R2015:Ly6g5b UTSW 17 35114678 missense possibly damaging 0.63
R7173:Ly6g5b UTSW 17 35114704 missense probably damaging 1.00
Posted On2013-11-05