Mutagenetix > Incidental Mutation

Incidental Mutation 'R0670:Klhl6'

61407

Institutional Source

Beutler Lab

Gene Symbol

Klhl6

Ensembl Gene

ENSMUSG00000043008

Gene Name

kelch-like 6

Synonyms

MMRRC Submission

038855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0670 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

19765242-19801766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19768309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 412 (H412L)

Ref Sequence

ENSEMBL: ENSMUSP00000053023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058839]

AlphaFold

Q6V595

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058839
AA Change: H412L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: H412L

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.7%

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Abraxas2	A	T	7: 132,470,760 (GRCm39)		probably null	Het
Afap1l2	G	A	19: 56,904,235 (GRCm39)	T684I	probably damaging	Het
Ahcyl1	A	T	3: 107,578,481 (GRCm39)	V205E	probably damaging	Het
Ap4e1	T	A	2: 126,853,784 (GRCm39)		probably null	Het
Brms1	C	A	19: 5,095,999 (GRCm39)	N24K	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Col25a1	A	G	3: 130,180,544 (GRCm39)	K130E	possibly damaging	Het
Crisp1	A	C	17: 40,616,001 (GRCm39)	Y125*	probably null	Het
Dnhd1	A	T	7: 105,345,671 (GRCm39)	D2272V	possibly damaging	Het
Elmod1	A	G	9: 53,820,106 (GRCm39)	V294A	probably damaging	Het
Gmfg	T	A	7: 28,140,953 (GRCm39)	I33K	probably damaging	Het
Gsk3b	G	T	16: 37,964,678 (GRCm39)	D49Y	probably damaging	Het
H2-T5	G	C	17: 36,478,990 (GRCm39)	F86L	possibly damaging	Het
Harbi1	C	T	2: 91,542,880 (GRCm39)	R114W	probably damaging	Het
Hspbp1	A	G	7: 4,680,735 (GRCm39)	V247A	probably damaging	Het
Kif17	A	T	4: 137,989,810 (GRCm39)		probably benign	Het
Muc1	A	G	3: 89,137,839 (GRCm39)	D227G	probably benign	Het
Nat8f5	A	T	6: 85,794,957 (GRCm39)	M1K	probably null	Het
Neb	A	G	2: 52,146,136 (GRCm39)	V2947A	possibly damaging	Het
Nfrkb	A	T	9: 31,331,469 (GRCm39)	Q1295L	probably benign	Het
Otop1	T	C	5: 38,445,292 (GRCm39)	V150A	possibly damaging	Het
Pcdhb2	A	T	18: 37,429,701 (GRCm39)	D558V	probably damaging	Het
Pdilt	T	C	7: 119,099,651 (GRCm39)	K206E	probably benign	Het
Pkn2	A	T	3: 142,545,104 (GRCm39)	I23K	probably damaging	Het
Plec	A	T	15: 76,090,160 (GRCm39)	L60Q	probably damaging	Het
Ranbp2	C	A	10: 58,316,520 (GRCm39)	D2413E	probably benign	Het
Socs1	A	G	16: 10,602,126 (GRCm39)	Y204H	probably damaging	Het
Stk39	T	C	2: 68,196,526 (GRCm39)	D301G	possibly damaging	Het
Tlr5	T	A	1: 182,801,454 (GRCm39)	W253R	probably damaging	Het
Treml2	A	G	17: 48,614,864 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,579,448 (GRCm39)	L22069P	probably damaging	Het
Vps13c	G	T	9: 67,833,139 (GRCm39)	S1614I	probably benign	Het
Vrk2	C	T	11: 26,436,959 (GRCm39)		probably null	Het
Xrn1	A	G	9: 95,873,109 (GRCm39)	Y655C	probably damaging	Het

Other mutations in Klhl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCCACCACCACATGCAGTACTTTTG -3'
(R):5'- ATCATCCCAGCCTTTGTGGCAC -3'

Sequencing Primer
(F):5'- ACATGCAGTACTTTTGTTGAAATTAC -3'
(R):5'- CCAGCAAGGCTTCCTACTG -3'

Posted On

2013-07-30