Incidental Mutation 'IGL01976:Klrb1a'
ID182660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrb1a
Ensembl Gene ENSMUSG00000030361
Gene Namekiller cell lectin-like receptor subfamily B member 1A
SynonymsLy55a, Nkrp1-a, NKR-P1A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01976
Quality Score
Status
Chromosome6
Chromosomal Location128609227-128623533 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 128618109 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 132 (T132S)
Ref Sequence ENSEMBL: ENSMUSP00000132390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032512] [ENSMUST00000171306] [ENSMUST00000203150] [ENSMUST00000203275] [ENSMUST00000204819]
Predicted Effect probably benign
Transcript: ENSMUST00000032512
AA Change: T165S

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032512
Gene: ENSMUSG00000030361
AA Change: T165S

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 100 217 1.52e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171306
AA Change: T132S

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132390
Gene: ENSMUSG00000030361
AA Change: T132S

DomainStartEndE-ValueType
CLECT 67 184 1.52e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203150
SMART Domains Protein: ENSMUSP00000144707
Gene: ENSMUSG00000030361

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203275
AA Change: T153S

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145086
Gene: ENSMUSG00000030361
AA Change: T153S

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
CLECT 88 205 7.6e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204819
AA Change: T162S

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145519
Gene: ENSMUSG00000030361
AA Change: T162S

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 97 214 7.6e-27 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,622,665 V1960A possibly damaging Het
Asph A T 4: 9,475,471 N537K probably damaging Het
Bnip2 T C 9: 70,000,834 probably benign Het
Cc2d2a C A 5: 43,683,115 Q104K probably benign Het
Cd300ld A G 11: 114,987,444 S81P probably damaging Het
Clec4a1 T C 6: 122,928,074 probably benign Het
Dnajb8 T C 6: 88,222,526 S15P probably damaging Het
Erp27 C A 6: 136,919,989 V72L probably damaging Het
Gm13103 A G 4: 143,852,793 N316S probably benign Het
Gpr156 A G 16: 37,979,033 T131A probably damaging Het
Grk1 T C 8: 13,415,993 V479A probably damaging Het
Hist1h2ba T A 13: 23,933,999 D53V possibly damaging Het
Hspg2 A G 4: 137,561,926 D3784G probably damaging Het
Irf2 A T 8: 46,807,225 K26M probably damaging Het
Irx6 C A 8: 92,676,089 C27* probably null Het
Izumo1r C T 9: 14,901,679 C99Y probably damaging Het
Mmp13 C T 9: 7,278,974 probably benign Het
Myo5b G A 18: 74,698,277 R766Q probably damaging Het
Myt1 T C 2: 181,795,739 L81P probably damaging Het
Nfat5 G A 8: 107,367,559 V793I probably damaging Het
Nup210 A G 6: 91,053,614 V108A possibly damaging Het
Olfr32 A G 2: 90,138,924 S72P probably damaging Het
Omd T A 13: 49,589,643 Y56* probably null Het
Psmd9 A G 5: 123,234,634 E60G probably damaging Het
Rab11fip1 T C 8: 27,152,797 E658G possibly damaging Het
Smchd1 T A 17: 71,394,725 K1091* probably null Het
Supt16 A T 14: 52,182,307 N111K possibly damaging Het
Trrap A G 5: 144,856,989 T3666A probably benign Het
Ttn T C 2: 76,785,751 D8289G probably damaging Het
Ush2a T A 1: 188,911,241 S4267T probably benign Het
Usp50 T A 2: 126,709,466 E31V probably benign Het
Other mutations in Klrb1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Klrb1a APN 6 128618045 splice site probably benign
IGL01678:Klrb1a APN 6 128618448 splice site probably benign
R0387:Klrb1a UTSW 6 128609734 missense possibly damaging 0.79
R1348:Klrb1a UTSW 6 128609834 missense possibly damaging 0.79
R3709:Klrb1a UTSW 6 128618503 missense probably benign 0.00
R5253:Klrb1a UTSW 6 128619163 missense probably benign 0.00
R5541:Klrb1a UTSW 6 128609736 missense probably benign 0.01
R5630:Klrb1a UTSW 6 128618610 missense probably benign 0.01
R5913:Klrb1a UTSW 6 128618509 missense probably damaging 0.99
R6248:Klrb1a UTSW 6 128619174 missense probably damaging 1.00
R7248:Klrb1a UTSW 6 128609734 missense possibly damaging 0.52
Z1176:Klrb1a UTSW 6 128618585 frame shift probably null
Posted On2014-05-07