Incidental Mutation 'IGL03077:Klrb1f'
ID 417725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrb1f
Ensembl Gene ENSMUSG00000030154
Gene Name killer cell lectin-like receptor subfamily B member 1F
Synonyms A630024B12Rik, Nkrp1f
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL03077
Quality Score
Status
Chromosome 6
Chromosomal Location 129022864-129034427 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129030765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 92 (E92V)
Ref Sequence ENSEMBL: ENSMUSP00000144813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032257] [ENSMUST00000203059] [ENSMUST00000204320] [ENSMUST00000204508]
AlphaFold Q8VD98
Predicted Effect possibly damaging
Transcript: ENSMUST00000032257
AA Change: E117V

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032257
Gene: ENSMUSG00000030154
AA Change: E117V

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 2.86e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000203059
AA Change: K91*
SMART Domains Protein: ENSMUSP00000145316
Gene: ENSMUSG00000030154
AA Change: K91*

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000204320
AA Change: E92V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144813
Gene: ENSMUSG00000030154
AA Change: E92V

DomainStartEndE-ValueType
low complexity region 41 64 N/A INTRINSIC
PDB:3M9Z|A 65 111 2e-7 PDB
Blast:CLECT 69 111 6e-25 BLAST
SCOP:d1e87a_ 69 111 2e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204413
Predicted Effect probably null
Transcript: ENSMUST00000204508
AA Change: K66*
SMART Domains Protein: ENSMUSP00000145033
Gene: ENSMUSG00000030154
AA Change: K66*

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205038
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,308 (GRCm39) N135D probably damaging Het
Ak4 T C 4: 101,277,148 (GRCm39) L44P probably damaging Het
Angpt1 C A 15: 42,339,818 (GRCm39) G298* probably null Het
Appl2 C T 10: 83,457,623 (GRCm39) probably benign Het
Arhgap19 T A 19: 41,769,760 (GRCm39) H341L probably benign Het
Chmp5 T C 4: 40,952,438 (GRCm39) S98P probably benign Het
Chp1 A T 2: 119,415,081 (GRCm39) Q161L probably benign Het
Clgn T C 8: 84,150,769 (GRCm39) V478A probably benign Het
Cplane1 G A 15: 8,242,279 (GRCm39) probably benign Het
Cyp2b19 A T 7: 26,461,809 (GRCm39) M210L probably benign Het
Eif4g3 T A 4: 137,853,166 (GRCm39) V244D probably damaging Het
Ftcd T C 10: 76,417,461 (GRCm39) I300T probably damaging Het
Gm12886 C T 4: 121,272,697 (GRCm39) probably benign Het
Krt23 A G 11: 99,374,700 (GRCm39) probably benign Het
Mib2 T G 4: 155,743,900 (GRCm39) R47S probably benign Het
Mindy4 A G 6: 55,286,315 (GRCm39) T728A probably damaging Het
Myh15 A G 16: 48,916,901 (GRCm39) N407S probably benign Het
Nlrp4f A G 13: 65,342,412 (GRCm39) V411A probably benign Het
Or10ag56 T C 2: 87,140,056 (GRCm39) *328Q probably null Het
Or4c12b A C 2: 89,647,486 (GRCm39) D266A probably damaging Het
Otud4 T G 8: 80,400,087 (GRCm39) S934A probably damaging Het
P3h1 C T 4: 119,093,983 (GRCm39) R213W probably damaging Het
Phrf1 A T 7: 140,834,881 (GRCm39) K19* probably null Het
Prl3b1 A T 13: 27,429,759 (GRCm39) M66L probably benign Het
Psmd7 T C 8: 108,309,099 (GRCm39) T149A probably benign Het
Samd4b T C 7: 28,105,868 (GRCm39) D450G probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Snrpa G A 7: 26,891,186 (GRCm39) T95I probably benign Het
Traip A G 9: 107,840,125 (GRCm39) probably benign Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Trim72 A T 7: 127,607,013 (GRCm39) M181L probably benign Het
Ttc41 T C 10: 86,594,212 (GRCm39) Y882H probably damaging Het
Vmn1r191 A C 13: 22,363,316 (GRCm39) I146S probably benign Het
Vmn2r9 G T 5: 108,996,173 (GRCm39) probably benign Het
Vps13a A G 19: 16,688,246 (GRCm39) S854P probably benign Het
Wdfy1 T C 1: 79,692,622 (GRCm39) K232E possibly damaging Het
Xpr1 A T 1: 155,156,774 (GRCm39) D625E possibly damaging Het
Zbbx T A 3: 74,989,153 (GRCm39) T317S possibly damaging Het
Other mutations in Klrb1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Klrb1f APN 6 129,030,138 (GRCm39) intron probably benign
IGL00838:Klrb1f APN 6 129,031,279 (GRCm39) missense possibly damaging 0.81
R0352:Klrb1f UTSW 6 129,030,680 (GRCm39) missense probably damaging 0.99
R0412:Klrb1f UTSW 6 129,031,294 (GRCm39) missense probably benign 0.30
R1733:Klrb1f UTSW 6 129,031,322 (GRCm39) nonsense probably null
R3237:Klrb1f UTSW 6 129,031,306 (GRCm39) missense possibly damaging 0.58
R4849:Klrb1f UTSW 6 129,033,347 (GRCm39) missense probably damaging 1.00
R4894:Klrb1f UTSW 6 129,030,151 (GRCm39) missense probably benign 0.23
R5378:Klrb1f UTSW 6 129,030,794 (GRCm39) missense probably damaging 1.00
R5610:Klrb1f UTSW 6 129,031,335 (GRCm39) critical splice donor site probably null
R6916:Klrb1f UTSW 6 129,030,774 (GRCm39) missense probably benign
R7412:Klrb1f UTSW 6 129,033,308 (GRCm39) nonsense probably null
Z1177:Klrb1f UTSW 6 129,029,466 (GRCm39) missense possibly damaging 0.77
Posted On 2016-08-02