Incidental Mutation 'IGL03046:Klhl6'
ID 391879
Institutional Source Beutler Lab
Gene Symbol Klhl6
Ensembl Gene ENSMUSG00000043008
Gene Name kelch-like 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL03046 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 19765242-19801766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19801639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 39 (I39V)
Ref Sequence ENSEMBL: ENSMUSP00000053023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058839] [ENSMUST00000166801]
AlphaFold Q6V595
Predicted Effect probably benign
Transcript: ENSMUST00000058839
AA Change: I39V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: I39V

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: ENSMUST00000165530
SMART Domains Protein: ENSMUSP00000133197
Gene: ENSMUSG00000043008

DomainStartEndE-ValueType
Pfam:BTB 36 73 1.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166801
SMART Domains Protein: ENSMUSP00000130755
Gene: ENSMUSG00000043008

DomainStartEndE-ValueType
Pfam:BTB 60 98 1.2e-9 PFAM
Meta Mutation Damage Score 0.0626 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (54/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,636,282 (GRCm39) M717K probably benign Het
Acad12 C A 5: 121,748,029 (GRCm39) V130L probably benign Het
Cdca2 T C 14: 67,937,471 (GRCm39) probably benign Het
Cfap100 T A 6: 90,389,332 (GRCm39) probably null Het
Cfap43 T A 19: 47,804,302 (GRCm39) E298V probably damaging Het
Cic C T 7: 24,990,500 (GRCm39) P1971S probably damaging Het
Cnga1 T C 5: 72,761,681 (GRCm39) D611G probably benign Het
Daglb C T 5: 143,486,948 (GRCm39) P522L probably damaging Het
Dclre1b A T 3: 103,710,597 (GRCm39) I438K probably benign Het
Ddx5 C A 11: 106,675,871 (GRCm39) R273M probably damaging Het
Eepd1 C T 9: 25,393,981 (GRCm39) L82F probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Exoc6 T C 19: 37,582,217 (GRCm39) probably null Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxs1 T C 2: 152,774,484 (GRCm39) T190A probably benign Het
Gje1 A G 10: 14,592,374 (GRCm39) L136P probably damaging Het
Hdac11 A G 6: 91,145,827 (GRCm39) T176A probably benign Het
Hhip C A 8: 80,698,967 (GRCm39) V700L probably damaging Het
Hps5 T C 7: 46,426,463 (GRCm39) probably benign Het
Itgb1bp1 T C 12: 21,329,436 (GRCm39) S13G unknown Het
Kcna1 A T 6: 126,619,148 (GRCm39) L391M possibly damaging Het
Kif1a C T 1: 93,010,128 (GRCm39) V6M probably damaging Het
Lpcat4 C A 2: 112,072,334 (GRCm39) silent Het
Ltn1 A T 16: 87,202,509 (GRCm39) S1047R probably benign Het
Mdn1 A G 4: 32,694,495 (GRCm39) T1073A possibly damaging Het
Megf10 G T 18: 57,421,055 (GRCm39) A898S possibly damaging Het
Mtmr6 T C 14: 60,529,577 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,059 (GRCm39) I333M probably benign Het
Muc5ac G T 7: 141,348,950 (GRCm39) C463F probably benign Het
Mycbpap G T 11: 94,396,543 (GRCm39) T99N possibly damaging Het
Myo7a C T 7: 97,728,534 (GRCm39) C824Y probably damaging Het
N4bp2 A G 5: 65,948,303 (GRCm39) H311R probably damaging Het
Nepro T A 16: 44,552,509 (GRCm39) probably benign Het
Nop56 A T 2: 130,117,489 (GRCm39) probably benign Het
Nup210 A G 6: 90,995,978 (GRCm39) probably benign Het
Or4d10c A G 19: 12,065,391 (GRCm39) V255A probably damaging Het
Or7g25 T A 9: 19,160,441 (GRCm39) I85F probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pgap6 A T 17: 26,338,414 (GRCm39) probably null Het
Pkhd1 T G 1: 20,607,589 (GRCm39) D1089A possibly damaging Het
Plb1 A G 5: 32,485,756 (GRCm39) R847G probably damaging Het
Pou6f2 A G 13: 18,303,612 (GRCm39) probably benign Het
Prss43 C G 9: 110,660,049 (GRCm39) S371C probably benign Het
Ralgapa1 A T 12: 55,741,942 (GRCm39) V1322D probably damaging Het
Rrp8 A G 7: 105,384,109 (GRCm39) V131A probably benign Het
Rtp1 A T 16: 23,248,044 (GRCm39) K39M probably benign Het
Sanbr A T 11: 23,565,150 (GRCm39) L279Q possibly damaging Het
Slc1a6 A G 10: 78,636,008 (GRCm39) I358V probably benign Het
Slc25a15 T C 8: 22,885,726 (GRCm39) probably benign Het
Slc43a1 G A 2: 84,684,897 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Spock3 T G 8: 63,802,018 (GRCm39) probably null Het
Tbc1d7 T C 13: 43,308,162 (GRCm39) probably null Het
Tmem184c C T 8: 78,326,286 (GRCm39) W260* probably null Het
Trnau1ap A G 4: 132,039,252 (GRCm39) Y265H probably damaging Het
Usp25 T C 16: 76,871,754 (GRCm39) F363S probably damaging Het
Vcl T C 14: 21,072,085 (GRCm39) F817L possibly damaging Het
Vmn1r13 T A 6: 57,187,717 (GRCm39) M292K probably benign Het
Xpc G T 6: 91,487,463 (GRCm39) A89E 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
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
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'- TGCAATATACATGCAGTTTGACTCG -3'
(R):5'- GCAGGAAATCCGTTCAGCTTC -3'

Sequencing Primer
(F):5'- GCAGTTTGACTCGGATTCAAAGC -3'
(R):5'- GGAAATCCGTTCAGCTTCTGCAG -3'
Posted On 2016-06-07