Incidental Mutation 'R0541:Klhl6'
ID 49941
Institutional Source Beutler Lab
Gene Symbol Klhl6
Ensembl Gene ENSMUSG00000043008
Gene Name kelch-like 6
Synonyms
MMRRC Submission 038733-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R0541 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 19765242-19801766 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 19768197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058839]
AlphaFold Q6V595
Predicted Effect probably null
Transcript: ENSMUST00000058839
SMART Domains Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008

DomainStartEndE-ValueType
BTB 70 167 1.43e-25 SMART
BACK 172 274 1.68e-35 SMART
Kelch 376 419 3.05e-1 SMART
Kelch 420 466 6.82e-11 SMART
Kelch 467 514 4.27e-3 SMART
Kelch 515 556 3.06e-4 SMART
Kelch 557 604 3.47e-3 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spleen hypoplasia, defects in mature B-cell subsets with normal pro- and pre-B-cell development, severely impaired antigen-dependent germinal center formation, and reduced memory IgG response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,872 (GRCm39) M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,227 (GRCm39) probably null Het
Abca7 C T 10: 79,843,185 (GRCm39) A1220V probably benign Het
Adamts19 G A 18: 59,060,372 (GRCm39) probably null Het
Agbl1 G A 7: 76,058,993 (GRCm39) V194M probably benign Het
Arhgap20 G T 9: 51,760,963 (GRCm39) S902I probably damaging Het
Atp11b T G 3: 35,861,093 (GRCm39) D193E probably damaging Het
B3gntl1 A T 11: 121,535,430 (GRCm39) probably benign Het
C2cd2 T C 16: 97,723,496 (GRCm39) E7G possibly damaging Het
Camta2 A G 11: 70,572,447 (GRCm39) L259P probably benign Het
Ccni T C 5: 93,335,563 (GRCm39) N192D probably benign Het
Cgnl1 A G 9: 71,558,535 (GRCm39) I946T possibly damaging Het
Chil3 T C 3: 106,068,548 (GRCm39) probably null Het
Cntn5 A G 9: 9,673,407 (GRCm39) probably benign Het
Cpn2 C T 16: 30,078,169 (GRCm39) G511S possibly damaging Het
Dagla C A 19: 10,232,170 (GRCm39) probably null Het
Dcc T C 18: 71,392,086 (GRCm39) N1440S probably damaging Het
Drosha T A 15: 12,907,474 (GRCm39) N1069K probably benign Het
Edc4 A G 8: 106,616,060 (GRCm39) T812A probably benign Het
Eml4 A G 17: 83,747,471 (GRCm39) I238V probably benign Het
Ep400 T C 5: 110,852,882 (GRCm39) T1288A unknown Het
Fastkd1 A C 2: 69,532,750 (GRCm39) L539R probably damaging Het
Fbln7 G A 2: 128,719,454 (GRCm39) probably benign Het
Fbxo39 A G 11: 72,209,297 (GRCm39) I386V probably benign Het
Gm17430 T C 18: 9,726,267 (GRCm39) K135R probably damaging Het
Gm3646 T A 1: 39,843,483 (GRCm39) T8S unknown Het
Gtsf1 A T 15: 103,329,619 (GRCm39) V100E possibly damaging Het
Helz2 A G 2: 180,876,618 (GRCm39) F1292S possibly damaging Het
Igf2bp3 G A 6: 49,084,401 (GRCm39) probably benign Het
Ip6k2 T G 9: 108,681,826 (GRCm39) D252E probably damaging Het
Iqck T A 7: 118,514,817 (GRCm39) L232Q probably damaging Het
Kif18b A G 11: 102,806,001 (GRCm39) V186A probably damaging Het
Lao1 C T 4: 118,820,999 (GRCm39) T75I probably benign Het
Lyst T C 13: 13,855,878 (GRCm39) F2400L probably benign Het
Map3k9 A T 12: 81,780,997 (GRCm39) S388T possibly damaging Het
Mmp11 G T 10: 75,762,767 (GRCm39) H229N probably damaging Het
Myh7 T G 14: 55,212,158 (GRCm39) I1529L probably benign Het
Nckap5 G T 1: 126,623,459 (GRCm39) D11E possibly damaging Het
Ncoa1 A T 12: 4,373,033 (GRCm39) F123I probably damaging Het
Nelfb A T 2: 25,093,992 (GRCm39) D385E probably benign Het
Obscn C T 11: 58,972,810 (GRCm39) V2288M probably damaging Het
Or2f1b A G 6: 42,739,154 (GRCm39) H56R probably damaging Het
Or4d6 C T 19: 12,086,884 (GRCm39) V9M possibly damaging Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Otog T A 7: 45,918,673 (GRCm39) probably benign Het
Oxa1l A G 14: 54,605,646 (GRCm39) E375G possibly damaging Het
Pan2 T A 10: 128,144,091 (GRCm39) I129K possibly damaging Het
Parp1 A G 1: 180,426,616 (GRCm39) I919M probably benign Het
Pnpla7 T C 2: 24,885,305 (GRCm39) Y174H probably damaging Het
Polr3b T C 10: 84,473,928 (GRCm39) F169S probably damaging Het
Rab10 T C 12: 3,314,743 (GRCm39) D45G probably damaging Het
Reln A G 5: 22,185,107 (GRCm39) S1537P possibly damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Spidr T A 16: 15,733,229 (GRCm39) I589F probably damaging Het
Stmn4 A C 14: 66,595,388 (GRCm39) I165L probably benign Het
Stx5a T C 19: 8,727,301 (GRCm39) M177T probably damaging Het
Tll1 T C 8: 64,491,486 (GRCm39) probably null Het
Tmem192 T C 8: 65,416,912 (GRCm39) Y168H probably damaging Het
Ttc21a C T 9: 119,785,892 (GRCm39) probably benign Het
Ush2a A G 1: 188,446,663 (GRCm39) probably benign Het
Vezf1 A G 11: 87,972,403 (GRCm39) M255V possibly damaging Het
Vmn2r25 A G 6: 123,816,786 (GRCm39) F265S probably damaging Het
Vps13a A G 19: 16,681,941 (GRCm39) S1021P probably benign Het
Wfdc16 T C 2: 164,477,773 (GRCm39) E92G possibly damaging Het
Zkscan2 T C 7: 123,079,423 (GRCm39) T845A possibly damaging Het
Other mutations in Klhl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Klhl6 APN 16 19,775,812 (GRCm39) missense probably benign 0.00
IGL01465:Klhl6 APN 16 19,801,572 (GRCm39) missense probably damaging 0.98
IGL01831:Klhl6 APN 16 19,772,235 (GRCm39) missense probably damaging 1.00
IGL01971:Klhl6 APN 16 19,768,276 (GRCm39) missense probably damaging 0.99
IGL02532:Klhl6 APN 16 19,775,832 (GRCm39) missense possibly damaging 0.84
IGL03113:Klhl6 APN 16 19,776,001 (GRCm39) missense possibly damaging 0.68
IGL03290:Klhl6 APN 16 19,765,887 (GRCm39) missense probably benign 0.44
Ascension UTSW 16 19,765,848 (GRCm39) missense probably damaging 1.00
besmirched UTSW 16 19,768,197 (GRCm39) splice site probably null
blau UTSW 16 19,775,755 (GRCm39) missense probably damaging 1.00
blossom UTSW 16 19,775,889 (GRCm39) missense probably damaging 1.00
Breech UTSW 16 19,766,984 (GRCm39) missense probably benign 0.43
cerulean UTSW 16 19,775,968 (GRCm39) nonsense probably null
cobalt UTSW 16 19,775,772 (GRCm39) missense probably damaging 1.00
grossbeak UTSW 16 19,768,201 (GRCm39) missense probably null 1.00
heights UTSW 16 19,775,778 (GRCm39) missense probably damaging 0.98
Lazuli UTSW 16 19,775,716 (GRCm39) frame shift probably null
Parula UTSW 16 19,775,793 (GRCm39) missense possibly damaging 0.56
sideways UTSW 16 19,776,018 (GRCm39) missense probably damaging 0.99
torres_del_paine UTSW 16 19,766,877 (GRCm39) missense probably damaging 1.00
turquoise UTSW 16 19,801,546 (GRCm39) missense probably damaging 1.00
IGL03046:Klhl6 UTSW 16 19,801,639 (GRCm39) missense probably benign
R0265:Klhl6 UTSW 16 19,766,984 (GRCm39) missense probably benign 0.43
R0496:Klhl6 UTSW 16 19,775,716 (GRCm39) frame shift probably null
R0497:Klhl6 UTSW 16 19,775,716 (GRCm39) frame shift probably null
R0540:Klhl6 UTSW 16 19,775,764 (GRCm39) missense possibly damaging 0.95
R0554:Klhl6 UTSW 16 19,772,343 (GRCm39) missense probably damaging 0.96
R0607:Klhl6 UTSW 16 19,775,764 (GRCm39) missense possibly damaging 0.95
R0636:Klhl6 UTSW 16 19,766,823 (GRCm39) splice site probably benign
R0670:Klhl6 UTSW 16 19,768,309 (GRCm39) missense possibly damaging 0.92
R1477:Klhl6 UTSW 16 19,784,727 (GRCm39) missense probably benign 0.00
R1510:Klhl6 UTSW 16 19,765,848 (GRCm39) missense probably damaging 1.00
R1547:Klhl6 UTSW 16 19,784,832 (GRCm39) missense probably benign
R1747:Klhl6 UTSW 16 19,765,778 (GRCm39) missense probably benign 0.40
R1871:Klhl6 UTSW 16 19,775,793 (GRCm39) missense possibly damaging 0.56
R1966:Klhl6 UTSW 16 19,801,572 (GRCm39) missense probably damaging 0.98
R2058:Klhl6 UTSW 16 19,801,681 (GRCm39) missense probably benign
R4466:Klhl6 UTSW 16 19,776,018 (GRCm39) missense probably damaging 0.99
R4645:Klhl6 UTSW 16 19,765,897 (GRCm39) missense probably damaging 1.00
R4690:Klhl6 UTSW 16 19,776,034 (GRCm39) missense probably benign 0.44
R4824:Klhl6 UTSW 16 19,775,778 (GRCm39) missense probably damaging 0.98
R4833:Klhl6 UTSW 16 19,775,889 (GRCm39) missense probably damaging 1.00
R4835:Klhl6 UTSW 16 19,775,783 (GRCm39) missense probably benign 0.07
R5001:Klhl6 UTSW 16 19,765,741 (GRCm39) makesense probably null
R5475:Klhl6 UTSW 16 19,766,877 (GRCm39) missense probably damaging 1.00
R5700:Klhl6 UTSW 16 19,775,968 (GRCm39) nonsense probably null
R5867:Klhl6 UTSW 16 19,801,570 (GRCm39) missense probably benign 0.37
R5910:Klhl6 UTSW 16 19,775,844 (GRCm39) missense probably benign 0.04
R6992:Klhl6 UTSW 16 19,772,337 (GRCm39) missense probably damaging 1.00
R7082:Klhl6 UTSW 16 19,801,633 (GRCm39) missense probably benign 0.00
R7262:Klhl6 UTSW 16 19,801,546 (GRCm39) missense probably damaging 1.00
R7314:Klhl6 UTSW 16 19,775,755 (GRCm39) missense probably damaging 1.00
R7464:Klhl6 UTSW 16 19,775,863 (GRCm39) missense possibly damaging 0.58
R7688:Klhl6 UTSW 16 19,765,881 (GRCm39) missense probably damaging 1.00
R7957:Klhl6 UTSW 16 19,768,201 (GRCm39) missense probably null 1.00
R8319:Klhl6 UTSW 16 19,775,940 (GRCm39) missense possibly damaging 0.74
R8460:Klhl6 UTSW 16 19,775,781 (GRCm39) missense probably damaging 1.00
R8853:Klhl6 UTSW 16 19,765,979 (GRCm39) missense possibly damaging 0.52
R9046:Klhl6 UTSW 16 19,765,803 (GRCm39) missense probably damaging 1.00
R9160:Klhl6 UTSW 16 19,775,772 (GRCm39) missense probably damaging 1.00
Z1176:Klhl6 UTSW 16 19,772,424 (GRCm39) missense probably damaging 1.00
Z1177:Klhl6 UTSW 16 19,801,711 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCATCTGAGGAGACAGACTCAGC -3'
(R):5'- CTTGTAGGTGGCAAAGAAACACAGC -3'

Sequencing Primer
(F):5'- GCTAAACCATCTTAGGGATAGGCTC -3'
(R):5'- GTTTGGAAGTACAATTCCTCCATC -3'
Posted On 2013-06-12