Incidental Mutation 'IGL02531:Klra8'
ID297300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra8
Ensembl Gene ENSMUSG00000089727
Gene Namekiller cell lectin-like receptor, subfamily A, member 8
SynonymsLy49u<129>, Cmv1, Cmv-1, Ly49h
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.015) question?
Stock #IGL02531
Quality Score
Status
Chromosome6
Chromosomal Location130115226-130129898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130118970 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 220 (S220P)
Ref Sequence ENSEMBL: ENSMUSP00000014476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014476]
PDB Structure
Crystal structure of the activating Ly49H receptor in complex with m157 (G1F strain) [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000014476
AA Change: S220P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727
AA Change: S220P

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,956,447 H467N unknown Het
Alb A G 5: 90,467,448 D273G probably damaging Het
Arap3 A G 18: 37,989,751 S531P probably damaging Het
Bmpr2 T A 1: 59,845,714 probably null Het
Chd7 G A 4: 8,854,134 R1902H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b13 A T 7: 26,061,605 H29L possibly damaging Het
Enpp5 G T 17: 44,080,952 V91F probably damaging Het
Fam210b T C 2: 172,352,755 Y176H probably damaging Het
Fam83b T C 9: 76,492,000 E607G possibly damaging Het
Gm4788 T C 1: 139,774,569 K59R probably benign Het
Hhla1 C T 15: 65,967,407 probably benign Het
Kdm3b A G 18: 34,795,729 T178A probably benign Het
Klf1 T A 8: 84,904,808 F334I probably damaging Het
Medag A G 5: 149,422,151 N99S probably benign Het
Muc6 T C 7: 141,636,940 T2607A possibly damaging Het
Mug2 T G 6: 122,072,771 L921R probably damaging Het
Nacad T C 11: 6,598,580 N1385D possibly damaging Het
Nin A G 12: 70,020,932 F1983L probably benign Het
Nipal4 T C 11: 46,151,325 I176M probably damaging Het
Orc6 T C 8: 85,303,369 S47P probably damaging Het
Ovch2 C T 7: 107,790,198 C341Y probably damaging Het
Polq T A 16: 37,062,374 H1633Q possibly damaging Het
Rab23 T C 1: 33,738,280 probably benign Het
Rai14 A G 15: 10,574,782 S697P probably damaging Het
Rnf213 T C 11: 119,436,802 F1872L probably benign Het
Sdhc T C 1: 171,136,018 H127R probably damaging Het
Snx9 T C 17: 5,891,820 V74A probably benign Het
Spata31d1d A G 13: 59,727,934 S596P possibly damaging Het
Syt14 T C 1: 192,901,934 *78W probably null Het
Thoc1 A G 18: 9,970,258 T203A probably benign Het
Trmt13 A G 3: 116,592,191 probably null Het
Ttc28 A G 5: 111,225,850 I1020V probably damaging Het
Vmn2r16 A G 5: 109,340,268 T336A probably damaging Het
Other mutations in Klra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Klra8 APN 6 130115598 missense probably benign
IGL01786:Klra8 APN 6 130119068 critical splice acceptor site probably null
IGL02145:Klra8 APN 6 130125236 missense probably benign 0.01
P4748:Klra8 UTSW 6 130122044 missense possibly damaging 0.51
R0082:Klra8 UTSW 6 130125055 missense probably benign 0.00
R0853:Klra8 UTSW 6 130119014 missense probably damaging 1.00
R1517:Klra8 UTSW 6 130115640 missense probably benign 0.02
R1610:Klra8 UTSW 6 130119018 missense probably damaging 1.00
R1669:Klra8 UTSW 6 130115629 nonsense probably null
R2015:Klra8 UTSW 6 130115573 missense probably damaging 1.00
R3784:Klra8 UTSW 6 130125055 missense probably benign 0.02
R6909:Klra8 UTSW 6 130125160 missense probably benign 0.03
R7009:Klra8 UTSW 6 130125184 missense probably benign 0.02
X0013:Klra8 UTSW 6 130125119 missense probably benign 0.01
Posted On2015-04-16