Incidental Mutation 'IGL01736:Ly6e'
ID105686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ly6e
Ensembl Gene ENSMUSG00000022587
Gene Namelymphocyte antigen 6 complex, locus E
SynonymsRIG-E, TSA-1, Tsa1, Sca-2, Ly67, 9804
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01736
Quality Score
Status
Chromosome15
Chromosomal Location74955051-74959905 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 74958697 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 132 (L132R)
Ref Sequence ENSEMBL: ENSMUSP00000139549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051698] [ENSMUST00000169343] [ENSMUST00000185861] [ENSMUST00000185863] [ENSMUST00000187284] [ENSMUST00000187606] [ENSMUST00000188042] [ENSMUST00000188866] [ENSMUST00000189186] [ENSMUST00000190810] [ENSMUST00000191127] [ENSMUST00000191145] [ENSMUST00000191436]
Predicted Effect probably benign
Transcript: ENSMUST00000051698
AA Change: L132R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: L132R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 8.6e-28 SMART
low complexity region 119 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169343
AA Change: L132R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: L132R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 8.6e-28 SMART
low complexity region 119 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185861
AA Change: L132R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: L132R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 8.6e-28 SMART
low complexity region 119 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185863
SMART Domains Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587

DomainStartEndE-ValueType
signal peptide 1 42 N/A INTRINSIC
LU 43 111 5.7e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186927
Predicted Effect probably benign
Transcript: ENSMUST00000187284
AA Change: L132R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: L132R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 8.6e-28 SMART
low complexity region 119 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187606
AA Change: L132R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: L132R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 8.6e-28 SMART
low complexity region 119 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188042
AA Change: L132R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: L132R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 8.6e-28 SMART
low complexity region 119 135 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188503
Predicted Effect probably benign
Transcript: ENSMUST00000188866
AA Change: L132R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: L132R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 8.6e-28 SMART
low complexity region 119 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189186
SMART Domains Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UPAR_LY6 29 64 3e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190810
SMART Domains Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 4.1e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191127
SMART Domains Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 4.1e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191145
SMART Domains Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
LU 42 117 2.4e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191436
AA Change: L132R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: L132R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 8.6e-28 SMART
low complexity region 119 135 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191439
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos as a result of heart defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,188,442 T290A possibly damaging Het
Apip G A 2: 103,087,141 V62M probably damaging Het
Appbp2 T C 11: 85,214,317 K141R possibly damaging Het
Arhgef18 T A 8: 3,451,624 probably benign Het
B3galt2 A G 1: 143,646,845 T240A probably benign Het
Bivm A T 1: 44,141,813 N385I probably damaging Het
Brd4 A T 17: 32,198,675 probably benign Het
Cage1 T C 13: 38,022,813 D352G possibly damaging Het
Ceacam10 A G 7: 24,781,110 Y102C probably damaging Het
Diaph3 T C 14: 86,918,846 D677G probably benign Het
Dis3l T C 9: 64,319,254 probably null Het
Dnah6 C T 6: 73,188,377 V582M probably benign Het
Fndc3b A G 3: 27,467,403 L541P probably damaging Het
Folh1 T C 7: 86,742,236 T384A possibly damaging Het
Gdpd3 T C 7: 126,766,523 L18P probably damaging Het
Grxcr2 T A 18: 41,998,982 K7N probably damaging Het
Gulo A G 14: 65,996,876 F246L probably benign Het
Inpp4b A T 8: 81,997,339 D500V probably benign Het
Ints4 C T 7: 97,526,642 L647F probably benign Het
Kif17 T A 4: 138,286,565 L264Q possibly damaging Het
Kif21a T C 15: 90,959,745 N1104S possibly damaging Het
Mis18bp1 T A 12: 65,138,678 H905L probably damaging Het
Nr2f2 A G 7: 70,354,698 S269P probably damaging Het
Olfr1176 T A 2: 88,340,427 N287K probably damaging Het
Olfr1360 C A 13: 21,674,617 C109F probably benign Het
Olfr1394 G A 11: 49,160,527 C171Y probably damaging Het
Pde8b T C 13: 95,030,402 I757V probably damaging Het
Psg23 A T 7: 18,612,197 I191N possibly damaging Het
Slc12a4 A T 8: 105,945,843 probably null Het
Snph A T 2: 151,594,173 Y209* probably null Het
Tnfaip3 T C 10: 19,006,901 H256R probably damaging Het
Tnip3 T A 6: 65,596,123 probably benign Het
Ttc3 T A 16: 94,442,527 F1130Y probably damaging Het
Twnk T G 19: 45,010,188 V515G probably damaging Het
Usp24 T A 4: 106,423,461 I2324K probably benign Het
Vwa7 T C 17: 35,019,851 F305S probably damaging Het
Ythdc2 A T 18: 44,850,668 Q567L probably damaging Het
Zbtb11 T A 16: 55,998,160 I649K probably damaging Het
Zbtb49 T C 5: 38,200,860 Y683C probably damaging Het
Zfhx4 A T 3: 5,244,092 M793L possibly damaging Het
Zmym6 T G 4: 127,108,644 I556R probably damaging Het
Zswim8 C T 14: 20,714,712 P717S probably benign Het
Other mutations in Ly6e
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0926:Ly6e UTSW 15 74958370 missense probably damaging 0.99
R2083:Ly6e UTSW 15 74958319 missense probably damaging 1.00
R2374:Ly6e UTSW 15 74958621 missense probably damaging 1.00
R4328:Ly6e UTSW 15 74958521 missense probably damaging 0.97
R4512:Ly6e UTSW 15 74957833 missense probably damaging 1.00
R4646:Ly6e UTSW 15 74958661 unclassified probably null
Posted On2014-01-21