Incidental Mutation 'R3237:Klrb1f'
ID 259092
Institutional Source Beutler Lab
Gene Symbol Klrb1f
Ensembl Gene ENSMUSG00000030154
Gene Name killer cell lectin-like receptor subfamily B member 1F
Synonyms A630024B12Rik, Nkrp1f
MMRRC Submission 040619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R3237 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 129022864-129034427 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129031306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 168 (I168L)
Ref Sequence ENSEMBL: ENSMUSP00000032257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032257] [ENSMUST00000203059] [ENSMUST00000204320] [ENSMUST00000204508]
AlphaFold Q8VD98
Predicted Effect possibly damaging
Transcript: ENSMUST00000032257
AA Change: I168L

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032257
Gene: ENSMUSG00000030154
AA Change: I168L

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aff2 T A X: 68,907,543 (GRCm39) V1175E possibly damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Bcar3 C A 3: 122,318,645 (GRCm39) Q678K probably benign Het
Ccm2 G A 11: 6,520,090 (GRCm39) V53I probably benign Het
Cd3e G T 9: 44,913,608 (GRCm39) C42* probably null Het
Cd4 A T 6: 124,844,633 (GRCm39) I384N probably benign Het
Ceacam11 T A 7: 17,707,379 (GRCm39) F54L probably benign Het
Cfap46 A G 7: 139,197,506 (GRCm39) S2122P probably damaging Het
Clptm1 A G 7: 19,369,271 (GRCm39) S461P probably damaging Het
Dlat T C 9: 50,549,331 (GRCm39) T518A possibly damaging Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Fam181a T G 12: 103,282,348 (GRCm39) C84W possibly damaging Het
Gask1a C T 9: 121,793,935 (GRCm39) P30S possibly damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Inpp5b A G 4: 124,674,279 (GRCm39) R329G probably benign Het
Lama4 A T 10: 38,973,175 (GRCm39) I1581F probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lyzl4 T C 9: 121,413,233 (GRCm39) D65G probably benign Het
Med29 A G 7: 28,092,046 (GRCm39) probably benign Het
Myrip C A 9: 120,270,473 (GRCm39) D574E possibly damaging Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Nlrp9a A T 7: 26,270,810 (GRCm39) K892* probably null Het
Nsd1 T A 13: 55,460,701 (GRCm39) H2309Q possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Optn T C 2: 5,039,014 (GRCm39) S370G probably damaging Het
Pbrm1 T C 14: 30,754,432 (GRCm39) F151L probably damaging Het
Plekhs1 A T 19: 56,453,032 (GRCm39) probably null Het
Rpn1 A G 6: 88,080,396 (GRCm39) K565R probably benign Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr1 C T 7: 28,769,075 (GRCm39) probably null Het
Scai C T 2: 39,040,326 (GRCm39) probably benign Het
Scap C G 9: 110,208,650 (GRCm39) P564A probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Slc41a3 T C 6: 90,613,847 (GRCm39) Y226H probably benign Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Sned1 G A 1: 93,186,725 (GRCm39) R180Q probably benign Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
St8sia3 T C 18: 64,402,886 (GRCm39) F175S probably damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Syngap1 T A 17: 27,176,067 (GRCm39) Y118* probably null Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Uba3 G T 6: 97,163,201 (GRCm39) T319K probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zc3hav1 A G 6: 38,296,650 (GRCm39) L751S probably damaging Het
Zfp804b T C 5: 6,819,239 (GRCm39) M1275V probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably 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
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
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
Predicted Primers PCR Primer
(F):5'- GTTTAGAACTAATCGTGGTTTAGAAGG -3'
(R):5'- TTCTGCCACAATTCTAAAGAACTAC -3'

Sequencing Primer
(F):5'- ATCGTGGTTTAGAAGGTTAATAGATG -3'
(R):5'- TGGTACACATACATACATGCTGGC -3'
Posted On 2015-01-23