Incidental Mutation 'IGL02067:Klrb1-ps1'
ID 185681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrb1-ps1
Ensembl Gene ENSMUSG00000079295
Gene Name killer cell lectin-like receptor subfamily B member 1, pseudogene 1
Synonyms Nkrp1e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02067
Quality Score
Status
Chromosome 6
Chromosomal Location 129093481-129106409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129106351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 164 (D164G)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071391
AA Change: D164G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071342
Gene: ENSMUSG00000079295
AA Change: D164G

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
CLECT 94 170 1.28e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184388
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik C T 5: 107,691,816 (GRCm39) R36* probably null Het
Aplp2 T A 9: 31,062,191 (GRCm39) K688N probably damaging Het
Arhgef28 G T 13: 98,213,825 (GRCm39) Q13K probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Chrna6 A G 8: 27,894,424 (GRCm39) S494P probably damaging Het
Clcc1 T A 3: 108,576,037 (GRCm39) L195H probably damaging Het
Coq3 A G 4: 21,900,397 (GRCm39) E208G probably benign Het
Dock4 T G 12: 40,884,384 (GRCm39) S1684A probably damaging Het
Duoxa2 G A 2: 122,131,072 (GRCm39) V78M possibly damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Fam8a1 G T 13: 46,823,324 (GRCm39) R88L possibly damaging Het
Ganc A G 2: 120,236,785 (GRCm39) D23G probably benign Het
Gm14305 A T 2: 176,411,110 (GRCm39) E53D probably damaging Het
Ing5 T A 1: 93,739,648 (GRCm39) L58Q probably damaging Het
Lama2 G A 10: 27,052,792 (GRCm39) T1389M probably benign Het
Lrp6 A T 6: 134,457,359 (GRCm39) I815K probably damaging Het
Nek10 A G 14: 14,861,639 (GRCm38) D565G probably benign Het
Opa1 A G 16: 29,435,473 (GRCm39) E641G probably damaging Het
Rbm44 T C 1: 91,080,567 (GRCm39) S252P probably damaging Het
Sbf1 A G 15: 89,173,247 (GRCm39) V1810A probably damaging Het
Sh3pxd2b T C 11: 32,373,095 (GRCm39) V754A probably benign Het
Slc27a6 A G 18: 58,745,263 (GRCm39) T566A probably benign Het
Stxbp6 C T 12: 44,908,081 (GRCm39) R179Q probably damaging Het
Supt6 T A 11: 78,121,983 (GRCm39) Y223F probably benign Het
Tdrd6 T C 17: 43,939,100 (GRCm39) I649M probably damaging Het
Tecrl A T 5: 83,432,122 (GRCm39) C258S probably benign Het
Zfp128 T C 7: 12,618,977 (GRCm39) I74T possibly damaging Het
Other mutations in Klrb1-ps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Klrb1-ps1 APN 6 129,093,548 (GRCm39) missense possibly damaging 0.91
IGL02218:Klrb1-ps1 APN 6 129,106,269 (GRCm39) splice site noncoding transcript
IGL02316:Klrb1-ps1 APN 6 129,093,532 (GRCm39) exon noncoding transcript
R0035:Klrb1-ps1 UTSW 6 129,106,306 (GRCm39) missense possibly damaging 0.80
R2972:Klrb1-ps1 UTSW 6 129,096,719 (GRCm39) splice site noncoding transcript
R2993:Klrb1-ps1 UTSW 6 129,097,992 (GRCm39) missense probably benign 0.19
R5076:Klrb1-ps1 UTSW 6 129,096,751 (GRCm39) exon noncoding transcript
Posted On 2014-05-07