Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00788:Klhl6'

11660

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00788

Quality Score

Status

Chromosome

Chromosomal Location

19765242-19801766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19775812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 249 (L249F)

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: L249F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: L249F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166801

SMART Domains

Protein: ENSMUSP00000130755
Gene: ENSMUSG00000043008

Domain	Start	End	E-Value	Type
Pfam:BTB	60	98	1.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171910

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,110,480 (GRCm39)	E3061G	probably damaging	Het
Armh3	C	T	19: 45,920,789 (GRCm39)		probably null	Het
Casd1	A	G	6: 4,624,400 (GRCm39)	T398A	probably benign	Het
Ceacam2	C	T	7: 25,237,998 (GRCm39)		probably null	Het
Chst9	A	G	18: 15,586,087 (GRCm39)	Y159H	probably benign	Het
Cip2a	T	A	16: 48,829,432 (GRCm39)		probably benign	Het
Cops4	A	G	5: 100,681,421 (GRCm39)	E152G	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Dpy19l1	A	G	9: 24,373,864 (GRCm39)		probably benign	Het
Gbp8	T	A	5: 105,198,863 (GRCm39)	E17D	probably benign	Het
Grik5	G	A	7: 24,764,818 (GRCm39)	H108Y	probably damaging	Het
Gsap	G	A	5: 21,426,303 (GRCm39)		probably benign	Het
Gsap	G	A	5: 21,459,022 (GRCm39)	V496M	probably damaging	Het
Hectd1	C	T	12: 51,795,571 (GRCm39)	S2286N	probably damaging	Het
Hgf	A	T	5: 16,803,228 (GRCm39)	Q380L	probably damaging	Het
Hsd11b1	C	T	1: 192,923,766 (GRCm39)	M1I	probably null	Het
Kank2	A	G	9: 21,691,775 (GRCm39)		probably benign	Het
Lrba	A	T	3: 86,234,992 (GRCm39)	M846L	probably damaging	Het
Macrod2	T	A	2: 142,052,069 (GRCm39)		probably benign	Het
Mroh9	A	T	1: 162,852,227 (GRCm39)	S821T	probably benign	Het
Myo5a	A	G	9: 75,076,241 (GRCm39)	T819A	probably benign	Het
Neb	A	T	2: 52,095,744 (GRCm39)		probably benign	Het
Pcyt1b	T	C	X: 92,778,515 (GRCm39)	F255L	probably benign	Het
Rttn	T	A	18: 88,990,633 (GRCm39)	S57T	probably benign	Het
Senp2	A	G	16: 21,837,114 (GRCm39)	D121G	probably damaging	Het
Slc25a21	A	T	12: 56,760,597 (GRCm39)		probably benign	Het
Sorbs1	A	G	19: 40,325,487 (GRCm39)		probably benign	Het
Spats2l	T	A	1: 57,924,864 (GRCm39)	N87K	probably damaging	Het
Sulf1	A	G	1: 12,918,673 (GRCm39)	D99G	probably damaging	Het
Sytl2	T	A	7: 90,031,906 (GRCm39)		probably benign	Het
Trim13	T	C	14: 61,843,119 (GRCm39)	F379L	probably benign	Het

Other mutations in Klhl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06