Incidental Mutation 'IGL01606:Klrb1'
ID93412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrb1
Ensembl Gene ENSMUSG00000079299
Gene Namekiller cell lectin-like receptor subfamily B member 1
SynonymsGm4696, 4930431A04Rik, Nkrp1g, Ly-55, Ly55
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01606
Quality Score
Status
Chromosome6
Chromosomal Location128705836-128723059 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 128723005 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 14 (E14D)
Ref Sequence ENSEMBL: ENSMUSP00000107738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112110]
Predicted Effect probably benign
Transcript: ENSMUST00000112110
AA Change: E14D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107738
Gene: ENSMUSG00000079299
AA Change: E14D

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
CLECT 91 208 8.55e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: This locus encodes a NK cell specific antigen. Four RFLP patterns differing among inbred strains have been identified in reference J:12581. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 14,943,863 D84G probably damaging Het
Adat3 A T 10: 80,607,338 I337F probably damaging Het
Carmil3 T A 14: 55,493,849 N128K possibly damaging Het
Ceacam2 T C 7: 25,530,707 E158G possibly damaging Het
Cel T C 2: 28,560,564 I150V probably benign Het
Chd5 A G 4: 152,360,975 H441R probably damaging Het
Clic5 G T 17: 44,248,746 R109L probably benign Het
Cpd T C 11: 76,812,640 M466V probably benign Het
Cyp39a1 T A 17: 43,746,618 probably benign Het
Dnah11 C A 12: 117,983,032 A3106S probably benign Het
Fasn A C 11: 120,809,023 probably null Het
Fat1 G A 8: 45,023,049 V1688I probably benign Het
Fibcd1 A G 2: 31,833,853 I258T probably benign Het
Frem2 C A 3: 53,653,591 R1165I possibly damaging Het
Gm5627 C T 9: 102,749,486 noncoding transcript Het
Gm5862 T A 5: 26,019,516 T152S probably benign Het
Gnb3 T A 6: 124,837,255 D154V probably damaging Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Osbpl1a A T 18: 12,756,214 D556E possibly damaging Het
Pkd1 T C 17: 24,576,523 V2330A probably damaging Het
Pkdrej T C 15: 85,817,700 K1345R possibly damaging Het
Plxna4 A G 6: 32,158,001 F1756L probably damaging Het
Psg28 A C 7: 18,430,371 S139A probably benign Het
Ptpru A T 4: 131,808,481 I395N possibly damaging Het
Reps1 A G 10: 18,107,687 E426G probably damaging Het
Rtp4 T A 16: 23,613,254 S179T probably benign Het
Sh3pxd2a C A 19: 47,268,596 R561L probably benign Het
Slc29a2 T A 19: 5,027,439 L215Q possibly damaging Het
Slc44a4 T C 17: 34,929,018 F653L probably damaging Het
Sulf1 G T 1: 12,836,204 R490L possibly damaging Het
Ttll4 T C 1: 74,685,893 L602P probably damaging Het
Ttn A G 2: 76,776,790 V17963A probably damaging Het
Urb1 A G 16: 90,760,459 S1760P probably damaging Het
Zmynd11 G A 13: 9,697,688 R149W probably damaging Het
Other mutations in Klrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01880:Klrb1 APN 6 128712319 missense possibly damaging 0.91
IGL02064:Klrb1 APN 6 128710637 missense probably benign 0.01
IGL02708:Klrb1 APN 6 128713585 missense probably benign 0.12
R0402:Klrb1 UTSW 6 128710620 missense probably benign 0.06
R0842:Klrb1 UTSW 6 128710045 critical splice donor site probably null
R1954:Klrb1 UTSW 6 128723073 splice site probably null
R2267:Klrb1 UTSW 6 128722974 missense probably damaging 1.00
R4191:Klrb1 UTSW 6 128713634 nonsense probably null
R5518:Klrb1 UTSW 6 128706525 missense probably benign 0.34
R5524:Klrb1 UTSW 6 128712333 critical splice acceptor site probably null
R6967:Klrb1 UTSW 6 128710523 critical splice donor site probably null
R7519:Klrb1 UTSW 6 128712289 missense probably damaging 1.00
R7670:Klrb1 UTSW 6 128710087 missense probably benign 0.00
R8297:Klrb1 UTSW 6 128712259 missense possibly damaging 0.57
R8322:Klrb1 UTSW 6 128713613 missense probably damaging 1.00
R8681:Klrb1 UTSW 6 128710049 missense possibly damaging 0.49
Posted On2013-12-09