Incidental Mutation 'IGL02636:Klrb1c'
ID301529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrb1c
Ensembl Gene ENSMUSG00000030325
Gene Namekiller cell lectin-like receptor subfamily B member 1C
SynonymsNK-RP1, Nk1.1, Nk1, Ly-59, Ly59, Ly55c, CD161, Nkrp1-c, Nk-1, NKR-P1C, NK-1.1, Nk-1.2, NKR-P1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02636
Quality Score
Status
Chromosome6
Chromosomal Location128778485-128789215 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 128788552 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 25 (C25F)
Ref Sequence ENSEMBL: ENSMUSP00000134504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167691] [ENSMUST00000174404] [ENSMUST00000174865] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756]
Predicted Effect probably benign
Transcript: ENSMUST00000167691
AA Change: C25F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127297
Gene: ENSMUSG00000030325
AA Change: C25F

DomainStartEndE-ValueType
transmembrane domain 87 109 N/A INTRINSIC
CLECT 139 256 1.65e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172601
SMART Domains Protein: ENSMUSP00000134184
Gene: ENSMUSG00000030325

DomainStartEndE-ValueType
transmembrane domain 41 63 N/A INTRINSIC
CLECT 90 207 1.65e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174404
AA Change: C25F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134504
Gene: ENSMUSG00000030325
AA Change: C25F

DomainStartEndE-ValueType
transmembrane domain 87 109 N/A INTRINSIC
CLECT 142 259 1.65e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174865
SMART Domains Protein: ENSMUSP00000134055
Gene: ENSMUSG00000030325

DomainStartEndE-ValueType
transmembrane domain 76 98 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204394
SMART Domains Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.5e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204423
SMART Domains Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.7e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204677
SMART Domains Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
PDB:3M9Z|A 89 144 2e-30 PDB
SCOP:d1e87a_ 94 143 2e-12 SMART
Blast:CLECT 94 144 3e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000204756
SMART Domains Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
CLECT 85 185 1e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: This locus controls an antigen on natural killer cells. The a allele determines the Nk1.1 antigen in strains CE, C57BL/6, C57BR/cd, C57L, C58, DBA/1, MA/My, NZB, SJL, SM and B10.D2. The b allele determines the Nk1.2 antigen in strains CBA/J, BALB/c, C3H/He, A/J, DBA/2, LP and 129. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,628,654 Q1960K probably benign Het
Arhgef40 T A 14: 51,997,408 V1056E probably damaging Het
Cdh26 T A 2: 178,449,962 F105I probably damaging Het
Cep162 A T 9: 87,248,379 D59E possibly damaging Het
Cngb3 A T 4: 19,396,690 T348S probably damaging Het
Eci3 A T 13: 34,946,980 probably null Het
Gapvd1 A G 2: 34,725,404 I409T probably benign Het
Golga2 T C 2: 32,296,723 probably null Het
Hoxd3 G A 2: 74,746,954 A393T probably benign Het
Htr5a T C 5: 27,842,660 F71S probably damaging Het
Hyou1 T C 9: 44,381,410 probably null Het
Igsf6 C A 7: 121,067,280 probably benign Het
Lrguk C A 6: 34,090,188 T483K probably damaging Het
Lrpprc A T 17: 84,753,104 probably benign Het
Lrrk1 A T 7: 66,308,659 probably null Het
Megf8 G A 7: 25,358,432 G2098D probably damaging Het
Nfkbia T C 12: 55,491,173 Q165R possibly damaging Het
Nipsnap2 A G 5: 129,745,290 probably benign Het
Phykpl C T 11: 51,598,713 T382I probably damaging Het
Prdm10 A G 9: 31,329,681 D206G possibly damaging Het
Rab26 T C 17: 24,533,559 S9G probably benign Het
Sema3e C A 5: 14,225,656 N258K probably benign Het
Slfn10-ps T A 11: 83,030,145 noncoding transcript Het
Tgm5 A T 2: 121,076,796 C149S probably damaging Het
Timp4 C T 6: 115,249,824 probably null Het
Traf7 T C 17: 24,512,990 K251E probably benign Het
Ugcg G T 4: 59,207,763 R34L possibly damaging Het
Unc13d T C 11: 116,073,618 H300R probably damaging Het
Vmn1r20 G T 6: 57,431,761 C24F probably benign Het
Vmn2r13 T C 5: 109,192,017 R31G probably damaging Het
Vsig10l A G 7: 43,463,578 T87A possibly damaging Het
Zfp353-ps T A 8: 42,082,440 noncoding transcript Het
Other mutations in Klrb1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
Freakish UTSW 6 128784185 missense probably benign 0.38
Unnatural UTSW 6 128784211 missense probably benign 0.09
wacky UTSW 6 128780343 missense probably damaging 1.00
Weird UTSW 6 128784257 missense probably benign 0.00
Wild UTSW 6 128786005 missense probably benign 0.09
R0463:Klrb1c UTSW 6 128780403 missense probably benign 0.07
R3157:Klrb1c UTSW 6 128784739 missense possibly damaging 0.88
R3779:Klrb1c UTSW 6 128780343 missense probably damaging 1.00
R5111:Klrb1c UTSW 6 128786005 missense probably benign 0.09
R5149:Klrb1c UTSW 6 128783707 missense probably benign 0.07
R5196:Klrb1c UTSW 6 128780299 missense probably benign 0.00
R5568:Klrb1c UTSW 6 128788914 intron probably benign
R5620:Klrb1c UTSW 6 128784743 missense possibly damaging 0.67
R6000:Klrb1c UTSW 6 128784157 missense probably damaging 1.00
R6483:Klrb1c UTSW 6 128784185 missense probably benign 0.38
R6854:Klrb1c UTSW 6 128788418 missense possibly damaging 0.87
R7283:Klrb1c UTSW 6 128784257 missense probably benign 0.00
R7697:Klrb1c UTSW 6 128780310 missense probably benign 0.02
Z1177:Klrb1c UTSW 6 128788447 missense probably damaging 1.00
Posted On2015-04-16