Incidental Mutation 'IGL02067:Klrb1-ps1'
ID185681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrb1-ps1
Ensembl Gene ENSMUSG00000079295
Gene Namekiller cell lectin-like receptor subfamily B member 1, pseudogene 1
SynonymsNkrp1e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02067
Quality Score
Status
Chromosome6
Chromosomal Location129116518-129129446 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129129388 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 164 (D164G)
Gene Model predicted gene model for transcript(s):
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: 107,543,950 R36* probably null Het
Aplp2 T A 9: 31,150,895 K688N probably damaging Het
Arhgef28 G T 13: 98,077,317 Q13K probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Chrna6 A G 8: 27,404,396 S494P probably damaging Het
Clcc1 T A 3: 108,668,721 L195H probably damaging Het
Coq3 A G 4: 21,900,397 E208G probably benign Het
Dock4 T G 12: 40,834,385 S1684A probably damaging Het
Duoxa2 G A 2: 122,300,591 V78M possibly damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam8a1 G T 13: 46,669,848 R88L possibly damaging Het
Ganc A G 2: 120,406,304 D23G probably benign Het
Gm14305 A T 2: 176,719,317 E53D probably damaging Het
Ing5 T A 1: 93,811,926 L58Q probably damaging Het
Lama2 G A 10: 27,176,796 T1389M probably benign Het
Lrp6 A T 6: 134,480,396 I815K probably damaging Het
Nek10 A G 14: 14,861,639 D565G probably benign Het
Opa1 A G 16: 29,616,655 E641G probably damaging Het
Rbm44 T C 1: 91,152,845 S252P probably damaging Het
Sbf1 A G 15: 89,289,044 V1810A probably damaging Het
Sh3pxd2b T C 11: 32,423,095 V754A probably benign Het
Slc27a6 A G 18: 58,612,191 T566A probably benign Het
Stxbp6 C T 12: 44,861,298 R179Q probably damaging Het
Supt6 T A 11: 78,231,157 Y223F probably benign Het
Tdrd6 T C 17: 43,628,209 I649M probably damaging Het
Tecrl A T 5: 83,284,275 C258S probably benign Het
Zfp128 T C 7: 12,885,050 I74T possibly damaging Het
Other mutations in Klrb1-ps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Klrb1-ps1 APN 6 129116585 missense possibly damaging 0.91
IGL02218:Klrb1-ps1 APN 6 129129306 splice site noncoding transcript
IGL02316:Klrb1-ps1 APN 6 129116569 exon noncoding transcript
R0035:Klrb1-ps1 UTSW 6 129129343 missense possibly damaging 0.80
R2972:Klrb1-ps1 UTSW 6 129119756 splice site noncoding transcript
R2993:Klrb1-ps1 UTSW 6 129121029 missense probably benign 0.19
R5076:Klrb1-ps1 UTSW 6 129119788 exon noncoding transcript
Posted On2014-05-07