Incidental Mutation 'R4328:Ly6e'
ID 324492
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 041098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4328 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 74826900-74831752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74830370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 73 (N73K)
Ref Sequence ENSEMBL: ENSMUSP00000139549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051698] [ENSMUST00000169343] [ENSMUST00000185861] [ENSMUST00000185863] [ENSMUST00000187284] [ENSMUST00000188042] [ENSMUST00000187606] [ENSMUST00000188866] [ENSMUST00000190810] [ENSMUST00000191127] [ENSMUST00000191145] [ENSMUST00000191436] [ENSMUST00000189186]
AlphaFold Q64253
Predicted Effect probably damaging
Transcript: ENSMUST00000051698
AA Change: N73K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: N73K

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: N73K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: N73K

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: N73K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: N73K

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: N89K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587
AA Change: N89K

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: N73K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: N73K

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: N73K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: N73K

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: N73K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: N73K

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: ENSMUST00000188866
AA Change: N73K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: N73K

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 possibly damaging
Transcript: ENSMUST00000190810
AA Change: N73K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587
AA Change: N73K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 4.1e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191127
AA Change: N73K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587
AA Change: N73K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 4.1e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191145
AA Change: N88K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587
AA Change: N88K

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
LU 42 117 2.4e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191436
AA Change: N73K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: N73K

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: ENSMUST00000189186
SMART Domains Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UPAR_LY6 29 64 3e-6 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300009A05Rik T C 9: 63,306,238 (GRCm39) K89R probably damaging Het
Aadacl4fm2 T A 4: 144,282,164 (GRCm39) K209N possibly damaging Het
Alcam T C 16: 52,073,579 (GRCm39) N549S possibly damaging Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Bin3 A G 14: 70,356,054 (GRCm39) I4V probably benign Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Cd55 C T 1: 130,375,104 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Col12a1 T A 9: 79,607,671 (GRCm39) T386S possibly damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Crym C T 7: 119,794,562 (GRCm39) G219E probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Eif1ad16 T A 12: 87,985,285 (GRCm39) D86V possibly damaging Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Gm3336 C T 8: 71,173,234 (GRCm39) T82I probably benign Het
Gm3604 A T 13: 62,517,079 (GRCm39) S425R possibly damaging Het
Gpn2 T C 4: 133,315,919 (GRCm39) V203A probably benign Het
Gskip T C 12: 105,666,960 (GRCm39) Y113H probably damaging Het
Hcn2 T C 10: 79,560,445 (GRCm39) Y259H probably damaging Het
Hira C A 16: 18,715,362 (GRCm39) Q87K probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kirrel1 T C 3: 86,992,081 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Med12l T C 3: 59,172,688 (GRCm39) S1813P probably benign Het
Med24 A G 11: 98,597,942 (GRCm39) probably null Het
Niban1 T C 1: 151,512,169 (GRCm39) S24P possibly damaging Het
Nup210l C A 3: 90,083,142 (GRCm39) probably null Het
Or2t1 T A 14: 14,328,193 (GRCm38) F27L probably damaging Het
Or5w12 C A 2: 87,502,008 (GRCm39) R234S possibly damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Or8d1 T C 9: 38,767,132 (GRCm39) M258T possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Pax8 A G 2: 24,331,663 (GRCm39) F140S possibly damaging Het
Ppargc1b A T 18: 61,515,540 (GRCm39) C34* probably null Het
Ppp3cb A T 14: 20,581,016 (GRCm39) I136K probably damaging Het
Prep T C 10: 44,996,745 (GRCm39) V341A probably benign Het
Prickle4 C A 17: 47,999,543 (GRCm39) G337C probably damaging Het
Rabgap1 T A 2: 37,422,627 (GRCm39) Y627N probably damaging Het
Ryr1 T C 7: 28,782,484 (GRCm39) Y1953C probably damaging Het
Snrnp200 T A 2: 127,064,137 (GRCm39) V708D probably damaging Het
Tent5b C T 4: 133,213,914 (GRCm39) Q262* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem62 T A 2: 120,810,991 (GRCm39) N156K probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Twsg1 T C 17: 66,255,733 (GRCm39) T14A probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp239 T C 6: 117,848,745 (GRCm39) L161P probably damaging Het
Zpbp2 A G 11: 98,448,432 (GRCm39) T199A probably benign 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
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
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'- TGCCAGGAGAAAGACCATTAC -3'
(R):5'- AAGGAGCTGGGCTTTTCCTG -3'

Sequencing Primer
(F):5'- GCCAGGAGAAAGACCATTACTGTATC -3'
(R):5'- ATGGTCAGGGGCTCAGCTG -3'
Posted On 2015-06-24