Incidental Mutation 'IGL02145:Klra8'
ID 281698
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 # IGL02145
Quality Score
Status
Chromosome 6
Chromosomal Location 130092189-130106861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130102199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 79 (N79D)
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 benign
Transcript: ENSMUST00000014476
AA Change: N79D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727
AA Change: N79D

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agt A G 8: 125,291,187 (GRCm39) L40P probably damaging Het
Ahnak T C 19: 8,980,219 (GRCm39) I501T probably benign Het
Aldh2 A G 5: 121,706,056 (GRCm39) *196Q probably null Het
Ankrd65 A G 4: 155,875,848 (GRCm39) D23G possibly damaging Het
Anln A T 9: 22,250,292 (GRCm39) probably null Het
Armc3 C T 2: 19,301,671 (GRCm39) S663L possibly damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Cul5 A T 9: 53,546,375 (GRCm39) probably benign Het
Cyba T C 8: 123,151,796 (GRCm39) I134V probably damaging Het
Cybb T A X: 9,323,257 (GRCm39) Q93H probably damaging Het
Cyp4f37 G T 17: 32,849,009 (GRCm39) K292N probably benign Het
Dmxl2 T C 9: 54,281,981 (GRCm39) I2850V probably benign Het
Ep300 T C 15: 81,485,367 (GRCm39) I118T unknown Het
Ercc6l G T X: 101,189,148 (GRCm39) P454T probably benign Het
Grxcr1 A G 5: 68,267,821 (GRCm39) E190G probably damaging Het
Heatr3 C T 8: 88,871,227 (GRCm39) R194C probably benign Het
Hspa12b C T 2: 130,985,655 (GRCm39) probably benign Het
Inpp5d T C 1: 87,642,777 (GRCm39) V644A probably damaging Het
Kif26a G A 12: 112,143,409 (GRCm39) R1221H probably benign Het
Kntc1 T C 5: 123,900,661 (GRCm39) I253T possibly damaging Het
Lamp5 T C 2: 135,901,509 (GRCm39) V111A possibly damaging Het
Lmo7 T C 14: 102,139,659 (GRCm39) S859P probably benign Het
Mgarp T C 3: 51,296,453 (GRCm39) Q205R possibly damaging Het
Morf4l1 A G 9: 89,975,848 (GRCm39) Y315H probably benign Het
Naip6 A T 13: 100,433,486 (GRCm39) V1117E possibly damaging Het
Nipal1 A G 5: 72,824,274 (GRCm39) D206G probably damaging Het
Notch3 A G 17: 32,373,715 (GRCm39) S498P probably benign Het
Npepps A G 11: 97,109,328 (GRCm39) probably null Het
Or14c46 C A 7: 85,918,466 (GRCm39) C177F probably damaging Het
Or2ak6 T C 11: 58,592,886 (GRCm39) Y120H probably damaging Het
Phlpp1 A G 1: 106,317,613 (GRCm39) H1278R probably damaging Het
Pprc1 C A 19: 46,053,329 (GRCm39) probably benign Het
Rab8b A T 9: 66,755,000 (GRCm39) probably benign Het
Ripor2 T A 13: 24,901,554 (GRCm39) I875N probably damaging Het
Samd9l T C 6: 3,374,105 (GRCm39) E1052G probably benign Het
Slit3 A T 11: 35,520,569 (GRCm39) I569F probably damaging Het
Spata2l C T 8: 123,960,770 (GRCm39) G173D possibly damaging Het
Stc2 T G 11: 31,317,875 (GRCm39) probably benign Het
Tm6sf1 C A 7: 81,513,000 (GRCm39) Y65* probably null Het
Tspan15 A G 10: 62,029,751 (GRCm39) probably benign Het
Vmn2r14 A T 5: 109,368,454 (GRCm39) Y179* probably null Het
Washc5 C A 15: 59,241,060 (GRCm39) V92L probably benign Het
Wiz A G 17: 32,575,893 (GRCm39) S838P probably benign Het
Zp2 T A 7: 119,739,074 (GRCm39) probably null Het
Other mutations in Klra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Klra8 APN 6 130,092,561 (GRCm39) missense probably benign
IGL01786:Klra8 APN 6 130,096,031 (GRCm39) critical splice acceptor site probably null
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 2015-04-16