Incidental Mutation 'R7314:Klhl6'
ID 567844
Institutional Source Beutler Lab
Gene Symbol Klhl6
Ensembl Gene ENSMUSG00000043008
Gene Name kelch-like 6
Synonyms
MMRRC Submission 045412-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7314 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 19765242-19801766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19775755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 268 (Y268H)
Ref Sequence ENSEMBL: ENSMUSP00000053023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058839]
AlphaFold Q6V595
Predicted Effect probably damaging
Transcript: ENSMUST00000058839
AA Change: Y268H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: Y268H

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 0.4935 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik G A 7: 29,989,320 (GRCm39) V177I unknown Het
4930596D02Rik A G 14: 35,533,606 (GRCm39) V54A probably benign Het
Abcc10 C A 17: 46,626,330 (GRCm39) A704S probably damaging Het
Adss2 A G 1: 177,595,317 (GRCm39) W408R probably damaging Het
Aplp1 T C 7: 30,135,414 (GRCm39) E548G probably damaging Het
C4b C T 17: 34,959,330 (GRCm39) V415I probably benign Het
Celsr3 T C 9: 108,706,343 (GRCm39) V942A probably damaging Het
Cstf1 A G 2: 172,214,954 (GRCm39) D25G probably damaging Het
Dnah14 A T 1: 181,612,819 (GRCm39) probably null Het
Dnah9 G A 11: 65,880,677 (GRCm39) T2640I probably benign Het
Dnase2b T C 3: 146,288,151 (GRCm39) I315V probably damaging Het
Endod1 T C 9: 14,268,295 (GRCm39) S397G probably benign Het
Eps8 A G 6: 137,504,090 (GRCm39) V171A possibly damaging Het
Ghdc T C 11: 100,659,928 (GRCm39) E273G probably damaging Het
Hmgn2-ps C T 8: 73,058,839 (GRCm39) G63R probably damaging Het
Hspbap1 T A 16: 35,645,541 (GRCm39) S409T probably benign Het
Ireb2 T C 9: 54,799,794 (GRCm39) Y412H probably damaging Het
Jph4 TCCATTCTCGTATACCCCA TCCA 14: 55,347,196 (GRCm39) probably benign Het
Krt16 T C 11: 100,138,695 (GRCm39) D197G probably damaging Het
Lca5 T C 9: 83,277,563 (GRCm39) K594E possibly damaging Het
Lgi3 T C 14: 70,769,552 (GRCm39) F84S probably damaging Het
Lingo3 T C 10: 80,670,707 (GRCm39) I408V possibly damaging Het
Map3k7 G T 4: 31,985,769 (GRCm39) E231* probably null Het
Nrip1 A G 16: 76,088,078 (GRCm39) S1160P probably benign Het
Oas1g A T 5: 121,016,526 (GRCm39) L301Q probably damaging Het
Obox3 T A 7: 15,361,079 (GRCm39) Q62L possibly damaging Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Or6b13 A T 7: 139,782,326 (GRCm39) V119D probably damaging Het
Parp8 G T 13: 117,004,996 (GRCm39) F727L probably benign Het
Pcdha1 T C 18: 37,064,553 (GRCm39) Y406H probably damaging Het
Pcdhgb8 A G 18: 37,896,052 (GRCm39) D374G probably damaging Het
Pdzd8 A T 19: 59,289,783 (GRCm39) L539* probably null Het
Phkb A G 8: 86,669,021 (GRCm39) probably null Het
Ppp1r13b T C 12: 111,812,790 (GRCm39) E143G probably damaging Het
Rpap2 T C 5: 107,768,245 (GRCm39) V361A probably damaging Het
Setd4 T C 16: 93,384,711 (GRCm39) T326A probably benign Het
Smad9 A G 3: 54,696,744 (GRCm39) N270D probably benign Het
Sntg2 A G 12: 30,317,107 (GRCm39) S172P probably benign Het
Tecpr1 A G 5: 144,154,150 (GRCm39) L101P probably damaging Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tmprss11f T C 5: 86,671,912 (GRCm39) T427A possibly damaging Het
Trhr2 A G 8: 123,085,489 (GRCm39) V165A possibly damaging Het
Ubr3 T A 2: 69,821,944 (GRCm39) L1402Q probably damaging Het
Vps13c T A 9: 67,850,622 (GRCm39) probably null Het
Zfp369 T C 13: 65,439,918 (GRCm39) S201P probably 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
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
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
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'- CTAGACTGCACACAACTGGG -3'
(R):5'- TCCTGTGGACACTTTGTACCAC -3'

Sequencing Primer
(F):5'- TAGATCAGGAATGCCCAGATTC -3'
(R):5'- GGACACTTTGTACCACATCTTGAGG -3'
Posted On 2019-06-26