Incidental Mutation 'IGL00225:Klrb1f'
ID 2369
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 # IGL00225
Quality Score
Status
Chromosome 6
Chromosomal Location 129022864-129034427 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 129030138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032257] [ENSMUST00000203059] [ENSMUST00000204320] [ENSMUST00000204508]
AlphaFold Q8VD98
Predicted Effect probably benign
Transcript: ENSMUST00000032257
SMART Domains Protein: ENSMUSP00000032257
Gene: ENSMUSG00000030154

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

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204320
SMART Domains Protein: ENSMUSP00000144813
Gene: ENSMUSG00000030154

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 benign
Transcript: ENSMUST00000204508
SMART Domains Protein: ENSMUSP00000145033
Gene: ENSMUSG00000030154

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Flii T C 11: 60,614,241 (GRCm39) N93D probably benign Het
Gm8356 T C 14: 17,693,287 (GRCm39) K24E probably damaging Het
Hars1 G A 18: 36,901,225 (GRCm39) T409M probably damaging Het
Ivns1abp A G 1: 151,226,863 (GRCm39) probably null Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kdm4c T G 4: 74,263,804 (GRCm39) V696G probably benign Het
Lrp4 G A 2: 91,325,371 (GRCm39) V1399I probably benign Het
LTO1 G A 7: 144,471,405 (GRCm39) G86D possibly damaging Het
Mki67 A G 7: 135,291,849 (GRCm39) V3168A probably benign Het
Nf1 T A 11: 79,286,731 (GRCm39) I177K probably damaging Het
Nnt A T 13: 119,506,533 (GRCm39) N371K probably damaging Het
Or13a27 A G 7: 139,925,123 (GRCm39) Y260H probably damaging Het
Or5p52 C T 7: 107,502,311 (GRCm39) P129L probably damaging Het
Prkdc G T 16: 15,627,508 (GRCm39) V3389L possibly damaging Het
Prr16 T A 18: 51,436,192 (GRCm39) Y224N possibly damaging Het
Ptgs1 G A 2: 36,127,231 (GRCm39) C39Y probably damaging Het
Sla T C 15: 66,654,479 (GRCm39) D269G possibly damaging Het
Stk38l T A 6: 146,659,971 (GRCm39) M1K probably null Het
Trim24 T A 6: 37,880,583 (GRCm39) N160K possibly damaging Het
Zfp451 A G 1: 33,825,621 (GRCm39) probably benign Het
Other mutations in Klrb1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Klrb1f APN 6 129,031,279 (GRCm39) missense possibly damaging 0.81
IGL03077:Klrb1f APN 6 129,030,765 (GRCm39) missense probably null 0.99
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 2011-12-09