Incidental Mutation 'IGL01786:Klra8'
ID 155081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra8
Ensembl Gene ENSMUSG00000089727
Gene Name killer cell lectin-like receptor, subfamily A, member 8
Synonyms Ly49u<129>, Ly49h, Cmv1, Cmv-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01786
Quality Score
Status
Chromosome 6
Chromosomal Location 130092189-130106861 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 130096031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000014476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014476]
AlphaFold Q60682
PDB Structure Crystal structure of the activating Ly49H receptor in complex with m157 (G1F strain) [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000014476
SMART Domains Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727

DomainStartEndE-ValueType
Blast:CLECT 73 124 9e-8 BLAST
CLECT 143 258 6.53e-15 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Most mouse strains other than C57BL/6 and C57BL/10 lack this gene and this correlates with an increased susceptiblity to CMV infection. A congenic strain in which the CMV resistant allele from C57BL/6 mice has been introduced in the BALB/c background shows high susceptibility to malarial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 T A 8: 25,486,855 (GRCm39) H20L probably damaging Het
Ano3 T A 2: 110,513,060 (GRCm39) Q645L probably damaging Het
Clasp1 T A 1: 118,425,466 (GRCm39) L272Q possibly damaging Het
Corin T C 5: 72,497,219 (GRCm39) N532S probably damaging Het
Ddx1 A T 12: 13,279,137 (GRCm39) D468E probably benign Het
Hk2 A G 6: 82,716,534 (GRCm39) S333P probably benign Het
Kctd19 T C 8: 106,116,936 (GRCm39) T398A probably benign Het
Mcm8 A G 2: 132,669,868 (GRCm39) D314G probably benign Het
Mga T A 2: 119,733,393 (GRCm39) D80E probably damaging Het
Mylk3 T C 8: 86,085,946 (GRCm39) Q36R probably benign Het
Myom2 T C 8: 15,156,330 (GRCm39) S726P probably damaging Het
Nuf2 T C 1: 169,338,052 (GRCm39) S242G possibly damaging Het
Nup210l T A 3: 90,030,083 (GRCm39) Y265* probably null Het
Or12j3 T A 7: 139,953,038 (GRCm39) M162L probably benign Het
Or5b12b C T 19: 12,861,641 (GRCm39) T132I probably damaging Het
Otud3 T C 4: 138,624,208 (GRCm39) D278G probably benign Het
Papolg A G 11: 23,824,488 (GRCm39) V298A probably damaging Het
Phc1 T C 6: 122,296,479 (GRCm39) D847G possibly damaging Het
Pkd2l1 A G 19: 44,179,881 (GRCm39) F110L probably damaging Het
Plxnd1 T A 6: 115,936,896 (GRCm39) T1638S probably damaging Het
Polr3a G A 14: 24,534,188 (GRCm39) Q106* probably null Het
Rnf32 T C 5: 29,411,812 (GRCm39) probably benign Het
Slc30a9 A G 5: 67,503,581 (GRCm39) probably benign Het
Slc44a2 A G 9: 21,263,782 (GRCm39) Y650C probably damaging Het
Sv2a A T 3: 96,095,525 (GRCm39) Y306F probably benign Het
Tmem50a T C 4: 134,625,758 (GRCm39) E153G probably damaging Het
Tor1a A G 2: 30,853,715 (GRCm39) probably null Het
Trarg1 G A 11: 76,571,292 (GRCm39) V103I probably benign Het
Usp20 A G 2: 30,907,175 (GRCm39) E594G probably benign Het
Other mutations in Klra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Klra8 APN 6 130,092,561 (GRCm39) missense probably benign
IGL02145:Klra8 APN 6 130,102,199 (GRCm39) missense probably benign 0.01
IGL02531:Klra8 APN 6 130,095,933 (GRCm39) missense possibly damaging 0.67
P4748:Klra8 UTSW 6 130,099,007 (GRCm39) missense possibly damaging 0.51
R0082:Klra8 UTSW 6 130,102,018 (GRCm39) missense probably benign 0.00
R0853:Klra8 UTSW 6 130,095,977 (GRCm39) missense probably damaging 1.00
R1517:Klra8 UTSW 6 130,092,603 (GRCm39) missense probably benign 0.02
R1610:Klra8 UTSW 6 130,095,981 (GRCm39) missense probably damaging 1.00
R1669:Klra8 UTSW 6 130,092,592 (GRCm39) nonsense probably null
R2015:Klra8 UTSW 6 130,092,536 (GRCm39) missense probably damaging 1.00
R3784:Klra8 UTSW 6 130,102,018 (GRCm39) missense probably benign 0.02
R6909:Klra8 UTSW 6 130,102,123 (GRCm39) missense probably benign 0.03
R7009:Klra8 UTSW 6 130,102,147 (GRCm39) missense probably benign 0.02
R8443:Klra8 UTSW 6 130,105,056 (GRCm39) missense probably damaging 0.98
R9055:Klra8 UTSW 6 130,096,017 (GRCm39) missense probably benign 0.00
X0013:Klra8 UTSW 6 130,102,082 (GRCm39) missense probably benign 0.01
Posted On 2014-02-04