Incidental Mutation 'IGL01131:Klre1'
ID 51363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klre1
Ensembl Gene ENSMUSG00000050241
Gene Name killer cell lectin-like receptor family E member 1
Synonyms NKG2I, Klre-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01131
Quality Score
Status
Chromosome 6
Chromosomal Location 129554868-129562790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129561133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 165 (F165L)
Ref Sequence ENSEMBL: ENSMUSP00000055779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053708] [ENSMUST00000203322]
AlphaFold Q8CJC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000053708
AA Change: F165L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055779
Gene: ENSMUSG00000050241
AA Change: F165L

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
CLECT 113 225 5.69e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203322
SMART Domains Protein: ENSMUSP00000145085
Gene: ENSMUSG00000050241

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203865
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile and display impaired natural killer cell mediated allogeneic cytotoxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adgrf5 G T 17: 43,733,400 (GRCm39) D75Y possibly damaging Het
Cfap20 T C 8: 96,151,287 (GRCm39) D18G probably damaging Het
Cpne3 T C 4: 19,543,318 (GRCm39) D160G probably damaging Het
Ercc3 A G 18: 32,402,942 (GRCm39) *784W probably null Het
Fam53b T C 7: 132,317,511 (GRCm39) E377G probably damaging Het
Far2 T C 6: 148,052,096 (GRCm39) V125A possibly damaging Het
Fasn T C 11: 120,705,445 (GRCm39) E1192G probably benign Het
Irf5 A G 6: 29,536,102 (GRCm39) E372G probably damaging Het
Kif2c C T 4: 117,029,562 (GRCm39) V140M probably damaging Het
Kmt2a C T 9: 44,732,467 (GRCm39) probably benign Het
Lrp2 C T 2: 69,329,583 (GRCm39) C1728Y probably damaging Het
Muc4 C A 16: 32,753,901 (GRCm38) T1259N possibly damaging Het
Nlrp9b A G 7: 19,757,462 (GRCm39) D233G probably damaging Het
Nuf2 T C 1: 169,349,933 (GRCm39) probably benign Het
Nynrin A G 14: 56,110,142 (GRCm39) K1750E probably damaging Het
Or5b109 A G 19: 13,212,103 (GRCm39) D163G probably benign Het
Parp4 C A 14: 56,823,217 (GRCm39) probably benign Het
Rbms1 T C 2: 60,589,180 (GRCm39) M287V probably benign Het
Rhox3c G A X: 36,651,982 (GRCm39) R71K probably damaging Het
Rufy1 A G 11: 50,282,850 (GRCm39) L638P probably damaging Het
Slc15a3 G A 19: 10,834,986 (GRCm39) probably benign Het
Slc26a9 T C 1: 131,683,280 (GRCm39) probably null Het
Slc6a13 A G 6: 121,298,600 (GRCm39) Y150C probably damaging Het
Slitrk6 A T 14: 110,989,008 (GRCm39) L233Q probably damaging Het
Ugt3a1 T A 15: 9,365,248 (GRCm39) I287N probably damaging Het
Unc13c T C 9: 73,471,335 (GRCm39) N1778S probably benign Het
Vmn1r212 T C 13: 23,067,329 (GRCm39) N335D unknown Het
Wdfy1 C T 1: 79,691,589 (GRCm39) V273I probably benign Het
Other mutations in Klre1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01677:Klre1 APN 6 129,559,006 (GRCm39) missense probably damaging 0.99
IGL03329:Klre1 APN 6 129,562,660 (GRCm39) utr 3 prime probably benign
R0533:Klre1 UTSW 6 129,560,156 (GRCm39) missense probably damaging 1.00
R0731:Klre1 UTSW 6 129,562,531 (GRCm39) splice site probably benign
R0961:Klre1 UTSW 6 129,559,378 (GRCm39) missense probably benign 0.01
R2151:Klre1 UTSW 6 129,556,996 (GRCm39) missense possibly damaging 0.94
R2266:Klre1 UTSW 6 129,562,593 (GRCm39) missense probably benign 0.00
R3982:Klre1 UTSW 6 129,560,101 (GRCm39) nonsense probably null
R4791:Klre1 UTSW 6 129,561,118 (GRCm39) missense probably damaging 1.00
R4901:Klre1 UTSW 6 129,561,188 (GRCm39) missense probably benign 0.27
R6713:Klre1 UTSW 6 129,559,229 (GRCm39) splice site probably null
R6845:Klre1 UTSW 6 129,561,202 (GRCm39) missense probably damaging 0.98
R7141:Klre1 UTSW 6 129,560,129 (GRCm39) missense probably damaging 1.00
R7593:Klre1 UTSW 6 129,560,150 (GRCm39) missense probably damaging 1.00
R8108:Klre1 UTSW 6 129,561,185 (GRCm39) missense probably benign 0.05
R8393:Klre1 UTSW 6 129,557,025 (GRCm39) missense probably damaging 0.98
R8401:Klre1 UTSW 6 129,556,989 (GRCm39) missense probably benign 0.02
R9456:Klre1 UTSW 6 129,559,368 (GRCm39) missense probably benign 0.15
Posted On 2013-06-21