Incidental Mutation 'IGL01607:Ly6a'
ID92294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ly6a
Ensembl Gene ENSMUSG00000075602
Gene Namelymphocyte antigen 6 complex, locus A
SynonymsLy-6A.2, Ly-6A/E, Sca-1, Sca1, TAP, Ly-6E.1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL01607
Quality Score
Status
Chromosome15
Chromosomal Location74994877-74998031 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74995413 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 85 (M85K)
Ref Sequence ENSEMBL: ENSMUSP00000140638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023248] [ENSMUST00000186526] [ENSMUST00000187171] [ENSMUST00000187994] [ENSMUST00000189068] [ENSMUST00000190188]
Predicted Effect probably benign
Transcript: ENSMUST00000023248
AA Change: M85K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023248
Gene: ENSMUSG00000075602
AA Change: M85K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 3.59e-39 SMART
low complexity region 121 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186526
AA Change: M85K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140998
Gene: ENSMUSG00000075602
AA Change: M85K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 3.59e-39 SMART
low complexity region 121 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187171
AA Change: M85K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140099
Gene: ENSMUSG00000075602
AA Change: M85K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 3.59e-39 SMART
low complexity region 121 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187994
AA Change: M85K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140287
Gene: ENSMUSG00000075602
AA Change: M85K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 3.59e-39 SMART
low complexity region 121 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189068
AA Change: M85K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140638
Gene: ENSMUSG00000075602
AA Change: M85K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LU 27 118 3.59e-39 SMART
low complexity region 121 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190188
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Nullizygous mice show strain-dependent prenatal lethality, altered proliferative response by T lymphocytes, hematopoietic stem cell and progenitor defects, and age-related osteoporosis. Heterozygotes for a knock-in allele develop a myeloproliferative disorder and skin pathology at high penetrance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,352,997 K556E possibly damaging Het
Adgre4 A C 17: 55,794,748 probably benign Het
Ajap1 C T 4: 153,432,279 G202S probably damaging Het
Catsperb G T 12: 101,480,726 probably benign Het
Ccdc178 T A 18: 22,067,721 D393V probably benign Het
Cfap74 A G 4: 155,418,986 T95A possibly damaging Het
Dis3l2 A G 1: 86,745,487 T67A probably benign Het
Dnaja3 T C 16: 4,693,395 F205L probably damaging Het
Dsc1 C T 18: 20,089,663 C584Y probably damaging Het
Duox2 C A 2: 122,292,319 V545L probably benign Het
Etaa1 A G 11: 17,953,637 L53P probably benign Het
Gm14184 C T 11: 99,699,664 C4Y unknown Het
Inpp4b C T 8: 82,010,663 A563V probably benign Het
Kcnc3 A G 7: 44,591,304 D140G probably damaging Het
Map4k2 C T 19: 6,345,593 probably null Het
Mttp T C 3: 138,104,698 Y652C probably damaging Het
Neu1 A T 17: 34,934,716 N372I probably benign Het
Nuak2 G A 1: 132,328,140 V184I probably damaging Het
Phf11a T C 14: 59,287,501 I85V probably damaging Het
Polr2e C A 10: 80,039,633 D3Y probably damaging Het
Ralb A G 1: 119,483,549 V20A probably damaging Het
Rln1 A T 19: 29,331,860 V173D probably benign Het
Stk38l T A 6: 146,771,654 C304S probably damaging Het
Stk38l T C 6: 146,772,227 probably benign Het
Tjp1 G T 7: 65,336,178 D288E possibly damaging Het
Trpm3 A G 19: 22,987,127 I1319V probably benign Het
Zic2 T G 14: 122,478,882 probably benign Het
Other mutations in Ly6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Ly6a UTSW 15 74995387 missense probably benign 0.28
R1224:Ly6a UTSW 15 74996478 missense possibly damaging 0.64
R7201:Ly6a UTSW 15 74996476 missense probably benign 0.01
R7774:Ly6a UTSW 15 74997567 missense probably damaging 1.00
R8070:Ly6a UTSW 15 74997600 missense probably damaging 1.00
Posted On2013-12-09