Incidental Mutation 'R4833:Klhl6'
ID 373017
Institutional Source Beutler Lab
Gene Symbol Klhl6
Ensembl Gene ENSMUSG00000043008
Gene Name kelch-like 6
Synonyms
MMRRC Submission 042449-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4833 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 19765242-19801766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19775889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 223 (D223V)
Ref Sequence ENSEMBL: ENSMUSP00000053023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058839] [ENSMUST00000166801]
AlphaFold Q6V595
Predicted Effect probably damaging
Transcript: ENSMUST00000058839
AA Change: D223V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: D223V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166801
SMART Domains Protein: ENSMUSP00000130755
Gene: ENSMUSG00000043008

DomainStartEndE-ValueType
Pfam:BTB 60 98 1.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171910
Meta Mutation Damage Score 0.9688 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 99% (74/75)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,766,872 (GRCm39) T153K possibly damaging Het
Abca5 A C 11: 110,170,142 (GRCm39) Y1318D probably benign Het
Adam18 A G 8: 25,164,117 (GRCm39) I22T probably benign Het
Adgrv1 T A 13: 81,708,963 (GRCm39) H1147L possibly damaging Het
Ankrd2 T C 19: 42,032,296 (GRCm39) probably null Het
Bdkrb2 T C 12: 105,557,917 (GRCm39) W53R probably benign Het
Blm T A 7: 80,116,574 (GRCm39) I1111L probably benign Het
Bltp1 A G 3: 37,019,117 (GRCm39) I2007V probably damaging Het
Bmp3 T G 5: 99,003,066 (GRCm39) L32R probably damaging Het
Cdh23 T G 10: 60,220,817 (GRCm39) E1312A probably damaging Het
Ceacam5 C T 7: 17,486,183 (GRCm39) T560M probably benign Het
Cimap1a T C 7: 140,428,191 (GRCm39) M1T probably null Het
Cmtm8 C A 9: 114,625,233 (GRCm39) R66I probably benign Het
Cnbd1 A G 4: 18,862,120 (GRCm39) Y357H probably damaging Het
Col4a4 A T 1: 82,507,323 (GRCm39) V252E unknown Het
Col6a4 A T 9: 105,949,178 (GRCm39) M819K probably benign Het
Cwf19l2 T C 9: 3,430,783 (GRCm39) S372P probably benign Het
Daam2 A T 17: 49,797,173 (GRCm39) I204N possibly damaging Het
Dock6 T C 9: 21,755,576 (GRCm39) D216G probably damaging Het
Epha5 C T 5: 84,253,750 (GRCm39) D548N possibly damaging Het
Erich2 T C 2: 70,364,636 (GRCm39) Y311H possibly damaging Het
Gm3985 A G 8: 33,380,505 (GRCm39) noncoding transcript Het
Gnb1 A G 4: 155,627,524 (GRCm39) T102A possibly damaging Het
Hcfc2 C T 10: 82,544,980 (GRCm39) A204V probably null Het
Hnrnpu T C 1: 178,161,459 (GRCm39) probably benign Het
Htt A G 5: 35,009,569 (GRCm39) T1517A probably damaging Het
Kpna6 A G 4: 129,551,572 (GRCm39) S71P possibly damaging Het
Lama3 A G 18: 12,574,188 (GRCm39) D590G probably benign Het
Lipt1 T G 1: 37,914,610 (GRCm39) L222R probably damaging Het
Lrrc41 A G 4: 115,950,374 (GRCm39) probably benign Het
Lrrc59 T C 11: 94,525,498 (GRCm39) V98A probably benign Het
Mast4 A G 13: 102,910,692 (GRCm39) probably null Het
Mdc1 C T 17: 36,161,286 (GRCm39) S733F probably benign Het
Mknk1 C T 4: 115,735,383 (GRCm39) probably benign Het
Mtmr7 A G 8: 41,043,505 (GRCm39) F141S probably damaging Het
Myo15b A G 11: 115,778,428 (GRCm39) D1G possibly damaging Het
Or7c70 T G 10: 78,683,409 (GRCm39) L113F probably damaging Het
Phkb T A 8: 86,628,540 (GRCm39) V183E probably damaging Het
Pola2 T C 19: 6,003,892 (GRCm39) Y161C probably damaging Het
Psen1 G A 12: 83,778,552 (GRCm39) V412I probably benign Het
Psmc4 C A 7: 27,746,937 (GRCm39) G77V probably damaging Het
Psmd3 A G 11: 98,578,586 (GRCm39) Y207C probably damaging Het
Pxk T A 14: 8,130,653 (GRCm38) M84K probably damaging Het
Rab44 A C 17: 29,355,311 (GRCm39) Q19P probably damaging Het
Rbks A G 5: 31,781,859 (GRCm39) Y314H probably benign Het
Rftn2 T C 1: 55,253,399 (GRCm39) D68G possibly damaging Het
Rims2 T A 15: 39,399,310 (GRCm39) S838R probably damaging Het
Sdc4 A T 2: 164,273,138 (GRCm39) D57E probably damaging Het
Slfn14 A G 11: 83,169,982 (GRCm39) L554P probably damaging Het
Spink2 G T 5: 77,353,239 (GRCm39) D83E possibly damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Taar8b A T 10: 23,968,030 (GRCm39) S55T possibly damaging Het
Tbca A G 13: 94,968,918 (GRCm39) E35G probably benign Het
Tmc5 C A 7: 118,228,052 (GRCm39) H307Q probably benign Het
Tmem169 A G 1: 72,337,311 (GRCm39) D82G probably benign Het
Tmem72 T C 6: 116,675,319 (GRCm39) T58A probably benign Het
Ttc7 C T 17: 87,641,749 (GRCm39) P449S probably damaging Het
Ttf2 T C 3: 100,868,722 (GRCm39) E449G probably benign Het
Ubr4 C A 4: 139,129,857 (GRCm39) T659K probably damaging Het
Wdr1 A G 5: 38,704,372 (GRCm39) Y98H probably damaging Het
Wfikkn2 A G 11: 94,129,878 (GRCm39) Y88H probably benign Het
Zfp384 A T 6: 125,007,811 (GRCm39) H247L probably damaging Het
Zfp526 C T 7: 24,925,295 (GRCm39) A518V probably damaging Het
Zfp788 T A 7: 41,296,992 (GRCm39) H47Q probably benign 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
R0541:Klhl6 UTSW 16 19,768,197 (GRCm39) splice site probably null
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
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'- TGGTACATCCTGGCTTCCTG -3'
(R):5'- CTCACAGAAGCATTGAACCCGG -3'

Sequencing Primer
(F):5'- GACTTCAGGGCACTGTCTAATAAG -3'
(R):5'- GCATTGAACCCGGAAAATTGTATTGG -3'
Posted On 2016-03-01