Incidental Mutation 'IGL01736:Ly6e'
ID 105686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ly6e
Ensembl Gene ENSMUSG00000022587
Gene Name lymphocyte antigen 6 family member E
Synonyms TSA-1, RIG-E, 9804, Tsa1, Sca-2, Ly67
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01736
Quality Score
Status
Chromosome 15
Chromosomal Location 74826900-74831752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74830546 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000188042] [ENSMUST00000187606] [ENSMUST00000191436] [ENSMUST00000188866] [ENSMUST00000191127] [ENSMUST00000189186] [ENSMUST00000190810] [ENSMUST00000191145]
AlphaFold Q64253
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: 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 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 noncoding transcript
Transcript: ENSMUST00000188503
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 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 noncoding transcript
Transcript: ENSMUST00000191439
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: 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: ENSMUST00000191145
SMART Domains Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
LU 42 117 2.4e-15 SMART
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: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S probably benign Het
Other mutations in Ly6e
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0926:Ly6e UTSW 15 74,830,219 (GRCm39) missense probably damaging 0.99
R2083:Ly6e UTSW 15 74,830,168 (GRCm39) missense probably damaging 1.00
R2374:Ly6e UTSW 15 74,830,470 (GRCm39) missense probably damaging 1.00
R4328:Ly6e UTSW 15 74,830,370 (GRCm39) missense probably damaging 0.97
R4512:Ly6e UTSW 15 74,829,682 (GRCm39) missense probably damaging 1.00
R4646:Ly6e UTSW 15 74,830,510 (GRCm39) splice site probably null
R7509:Ly6e UTSW 15 74,830,135 (GRCm39) missense probably damaging 1.00
R7706:Ly6e UTSW 15 74,830,183 (GRCm39) missense possibly damaging 0.90
R7892:Ly6e UTSW 15 74,829,700 (GRCm39) nonsense probably null
R8431:Ly6e UTSW 15 74,830,190 (GRCm39) missense probably benign 0.00
R9087:Ly6e UTSW 15 74,829,649 (GRCm39) missense probably benign 0.01
R9401:Ly6e UTSW 15 74,830,153 (GRCm39) nonsense probably null
R9795:Ly6e UTSW 15 74,830,390 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21