Incidental Mutation 'R2083:Ly6e'
ID 230168
Institutional Source Beutler Lab
Gene Symbol Ly6e
Ensembl Gene ENSMUSG00000022587
Gene Name lymphocyte antigen 6 family member E
Synonyms TSA-1, RIG-E, 9804, Tsa1, Sca-2, Ly67
MMRRC Submission 040088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2083 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 74826900-74831752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74830168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 41 (C41S)
Ref Sequence ENSEMBL: ENSMUSP00000139549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051698] [ENSMUST00000169343] [ENSMUST00000185861] [ENSMUST00000185863] [ENSMUST00000187284] [ENSMUST00000187606] [ENSMUST00000188042] [ENSMUST00000189186] [ENSMUST00000190810] [ENSMUST00000191145] [ENSMUST00000191436] [ENSMUST00000188866] [ENSMUST00000191127]
AlphaFold Q64253
Predicted Effect probably damaging
Transcript: ENSMUST00000051698
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: C41S

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 damaging
Transcript: ENSMUST00000169343
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: C41S

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 damaging
Transcript: ENSMUST00000185861
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: C41S

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 damaging
Transcript: ENSMUST00000185863
AA Change: C57S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587
AA Change: C57S

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 damaging
Transcript: ENSMUST00000187284
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: C41S

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 damaging
Transcript: ENSMUST00000187606
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: C41S

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 damaging
Transcript: ENSMUST00000188042
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: C41S

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 damaging
Transcript: ENSMUST00000189186
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587
AA Change: C41S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UPAR_LY6 29 64 3e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190810
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587
AA Change: C41S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 4.1e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191145
AA Change: C56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587
AA Change: C56S

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
LU 42 117 2.4e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191436
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: C41S

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 damaging
Transcript: ENSMUST00000188866
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: C41S

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 damaging
Transcript: ENSMUST00000191127
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587
AA Change: C41S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 4.1e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188686
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T A 5: 146,121,681 (GRCm39) M73L possibly damaging Het
AA986860 A T 1: 130,668,806 (GRCm39) I58F probably damaging Het
Acsl3 A T 1: 78,677,528 (GRCm39) K507N probably damaging Het
Adcy3 T C 12: 4,223,512 (GRCm39) Y245H probably damaging Het
Adgra1 T C 7: 139,455,547 (GRCm39) S392P probably damaging Het
Ahnak C T 19: 8,988,921 (GRCm39) P3402S probably damaging Het
Ambra1 T A 2: 91,596,945 (GRCm39) I12N possibly damaging Het
Atp10b A G 11: 43,103,250 (GRCm39) T545A probably benign Het
Atxn2 G T 5: 121,922,069 (GRCm39) A638S probably benign Het
Cd109 T C 9: 78,574,575 (GRCm39) S520P probably damaging Het
Col6a3 T C 1: 90,709,733 (GRCm39) D1821G unknown Het
Cyp4a10 T C 4: 115,382,505 (GRCm39) V265A possibly damaging Het
Dmrtb1 C T 4: 107,540,809 (GRCm39) R184Q possibly damaging Het
Dnah7b A T 1: 46,280,227 (GRCm39) I2719F possibly damaging Het
En2 T C 5: 28,372,071 (GRCm39) S183P probably damaging Het
Etfb A G 7: 43,105,924 (GRCm39) T101A probably benign Het
Etl4 T A 2: 20,748,360 (GRCm39) S364T probably damaging Het
Gm17728 C A 17: 9,641,121 (GRCm39) S77Y possibly damaging Het
Golga4 A G 9: 118,361,658 (GRCm39) E221G probably damaging Het
Gpr37 T C 6: 25,688,416 (GRCm39) N227S possibly damaging Het
Insyn2b A G 11: 34,352,141 (GRCm39) D61G probably benign Het
Kctd1 A T 18: 15,107,112 (GRCm39) N784K possibly damaging Het
Klhl22 A G 16: 17,594,389 (GRCm39) T173A probably benign Het
Mapkbp1 T C 2: 119,845,963 (GRCm39) L444P possibly damaging Het
Mkx A T 18: 6,992,855 (GRCm39) I143K probably damaging Het
Mlh3 A G 12: 85,315,815 (GRCm39) F124L probably benign Het
Nlrp1a A T 11: 71,015,046 (GRCm39) L68H possibly damaging Het
Obscn A C 11: 58,964,457 (GRCm39) Y726* probably null Het
Or4f59 C T 2: 111,872,898 (GRCm39) V160I probably benign Het
Or8d1 T G 9: 38,766,637 (GRCm39) V93G probably benign Het
Peak1 G A 9: 56,166,233 (GRCm39) S565L probably damaging Het
Pter T A 2: 12,983,247 (GRCm39) L84Q probably damaging Het
Ptpn4 A G 1: 119,615,489 (GRCm39) L555P possibly damaging Het
Rpp40 A T 13: 36,082,975 (GRCm39) M171K probably benign Het
Sacs A G 14: 61,443,955 (GRCm39) I2000M possibly damaging Het
Scn5a T C 9: 119,321,189 (GRCm39) I1458V probably benign Het
Slc38a4 T C 15: 96,906,874 (GRCm39) D288G probably benign Het
Slc8a2 T G 7: 15,868,440 (GRCm39) V224G probably damaging Het
Sptbn4 T C 7: 27,127,681 (GRCm39) E173G probably benign Het
Tas1r1 T A 4: 152,112,848 (GRCm39) H735L probably benign Het
Trps1 G T 15: 50,685,701 (GRCm39) Q155K probably damaging Het
Tspyl5 T C 15: 33,686,892 (GRCm39) H351R probably damaging Het
Ttf2 A T 3: 100,876,817 (GRCm39) D21E probably benign Het
Ttll7 A G 3: 146,635,859 (GRCm39) R398G possibly damaging Het
Tubgcp6 A T 15: 89,006,579 (GRCm39) Y148N probably damaging Het
Vmn1r8 T A 6: 57,013,325 (GRCm39) H125Q probably benign Het
Zfhx4 A G 3: 5,468,223 (GRCm39) T2794A possibly damaging Het
Zfp27 T C 7: 29,594,208 (GRCm39) I586V probably benign Het
Zfyve16 T C 13: 92,660,770 (GRCm39) D13G probably damaging Het
Other mutations in Ly6e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Ly6e APN 15 74,830,546 (GRCm39) missense probably benign 0.38
R0926:Ly6e UTSW 15 74,830,219 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- AAGTCAGTTGTCATTGGCTGGC -3'
(R):5'- GGTTGACATTCCCTGCATGG -3'

Sequencing Primer
(F):5'- TGACCCAGGGCTGAGCATG -3'
(R):5'- CATTCCCTGCATGGAAAGTG -3'
Posted On 2014-09-18