Incidental Mutation 'IGL00838:Klra5'
ID11670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra5
Ensembl Gene ENSMUSG00000030173
Gene Namekiller cell lectin-like receptor, subfamily A, member 5
SynonymsLy49e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00838
Quality Score
Status
Chromosome6
Chromosomal Location129898996-129917650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 129911359 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 35 (G35C)
Ref Sequence ENSEMBL: ENSMUSP00000112795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014683] [ENSMUST00000118060] [ENSMUST00000169901]
Predicted Effect possibly damaging
Transcript: ENSMUST00000014683
AA Change: G35C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000014683
Gene: ENSMUSG00000030173
AA Change: G35C

DomainStartEndE-ValueType
low complexity region 56 66 N/A INTRINSIC
Blast:CLECT 73 123 4e-9 BLAST
CLECT 143 258 3.66e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118060
AA Change: G35C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112795
Gene: ENSMUSG00000030173
AA Change: G35C

DomainStartEndE-ValueType
low complexity region 56 66 N/A INTRINSIC
Blast:CLECT 73 123 4e-9 BLAST
CLECT 143 258 3.66e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169901
SMART Domains Protein: ENSMUSP00000126290
Gene: ENSMUSG00000030173

DomainStartEndE-ValueType
CLECT 53 168 3.66e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal NK and T cell morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,402,757 N834K possibly damaging Het
Armc10 T A 5: 21,661,581 V281E probably damaging Het
Baat A T 4: 49,490,352 M244K probably damaging Het
Cryz T A 3: 154,618,475 C166S probably damaging Het
D430041D05Rik T A 2: 104,201,303 K1649N probably damaging Het
Dennd5b T C 6: 149,005,363 probably benign Het
Dock8 A T 19: 25,175,459 R1630* probably null Het
Gstm5 A G 3: 107,897,558 N122S probably benign Het
Klrb1f G A 6: 129,054,316 V159I possibly damaging Het
Mgl2 A T 11: 70,134,212 M14L probably benign Het
Mob1a C T 6: 83,338,331 R78C possibly damaging Het
Pigo C T 4: 43,021,767 A392T possibly damaging Het
Polr3a A T 14: 24,475,863 N436K probably benign Het
Prokr1 T C 6: 87,588,693 T57A possibly damaging Het
Ror1 T G 4: 100,333,743 V99G probably damaging Het
Ryr2 A T 13: 11,568,503 I4755N probably damaging Het
Senp5 T C 16: 31,989,173 D394G probably damaging Het
Speg A G 1: 75,410,390 I1318V possibly damaging Het
Syt6 T A 3: 103,625,626 M357K probably damaging Het
Tex11 A T X: 100,972,118 I328N possibly damaging Het
Ttc37 T C 13: 76,134,791 L744P probably damaging Het
Vnn1 T C 10: 23,900,779 F343L possibly damaging Het
Wdr72 A T 9: 74,155,129 E519V probably damaging Het
Other mutations in Klra5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Klra5 APN 6 129906605 missense probably damaging 1.00
IGL01770:Klra5 APN 6 129906664 missense probably damaging 1.00
IGL01978:Klra5 APN 6 129911430 missense probably benign 0.32
IGL01998:Klra5 APN 6 129906713 nonsense probably null
IGL02103:Klra5 APN 6 129911344 splice site probably null
IGL02995:Klra5 APN 6 129906614 missense possibly damaging 0.46
IGL03036:Klra5 APN 6 129908867 missense probably damaging 0.99
R0314:Klra5 UTSW 6 129903590 missense probably damaging 1.00
R0378:Klra5 UTSW 6 129906614 missense possibly damaging 0.46
R0646:Klra5 UTSW 6 129903564 missense probably damaging 1.00
R0731:Klra5 UTSW 6 129908796 missense possibly damaging 0.88
R1552:Klra5 UTSW 6 129909885 missense probably damaging 0.97
R1572:Klra5 UTSW 6 129906622 missense probably damaging 1.00
R1807:Klra5 UTSW 6 129899420 missense probably benign 0.00
R4451:Klra5 UTSW 6 129908834 nonsense probably null
R4619:Klra5 UTSW 6 129908813 missense probably benign 0.05
R4647:Klra5 UTSW 6 129899376 missense probably damaging 0.99
R5019:Klra5 UTSW 6 129899389 missense probably benign
R5364:Klra5 UTSW 6 129899353 missense probably benign
R6724:Klra5 UTSW 6 129906680 missense probably benign 0.29
R6925:Klra5 UTSW 6 129911457 missense probably benign 0.41
R7834:Klra5 UTSW 6 129899290 critical splice donor site probably null
Z1176:Klra5 UTSW 6 129911452 missense not run
Posted On2012-12-06