Mutagenetix > Incidental Mutation

Incidental Mutation 'R4824:Klhl6'

374267

Institutional Source

Beutler Lab

Gene Symbol

Klhl6

Ensembl Gene

ENSMUSG00000043008

Gene Name

kelch-like 6

Synonyms

MMRRC Submission

042440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19765242-19801766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19775778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 260 (R260H)

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: R260H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: R260H

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

Meta Mutation Damage Score

0.3154

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (123/126)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,437 (GRCm39)	T209A	probably benign	Het
1700086D15Rik	T	C	11: 65,043,441 (GRCm39)		probably benign	Het
A130010J15Rik	G	A	1: 192,856,965 (GRCm39)	V106I	probably benign	Het
Abca16	C	A	7: 120,074,702 (GRCm39)	N580K	possibly damaging	Het
Actrt2	A	T	4: 154,751,344 (GRCm39)	F264Y	probably damaging	Het
Adh4	G	A	3: 138,134,807 (GRCm39)	S327N	possibly damaging	Het
Alkbh5	T	C	11: 60,444,697 (GRCm39)		probably null	Het
Anapc1	T	A	2: 128,470,610 (GRCm39)	T1507S	possibly damaging	Het
Anapc2	A	G	2: 25,167,764 (GRCm39)	R444G	probably damaging	Het
Apoh	G	T	11: 108,305,087 (GRCm39)	W335L	probably benign	Het
B4galt7	A	T	13: 55,752,162 (GRCm39)	H71L	possibly damaging	Het
Bicd2	A	G	13: 49,532,488 (GRCm39)	E358G	probably damaging	Het
Bmper	T	A	9: 23,134,956 (GRCm39)	V7D	possibly damaging	Het
Brca2	T	C	5: 150,463,200 (GRCm39)	F988S	probably damaging	Het
Brix1	A	G	15: 10,485,828 (GRCm39)	V49A	possibly damaging	Het
Brpf3	T	C	17: 29,025,460 (GRCm39)	S178P	probably benign	Het
Btaf1	A	G	19: 36,958,448 (GRCm39)	Y655C	possibly damaging	Het
C1rl	C	G	6: 124,486,040 (GRCm39)	Y470*	probably null	Het
Cacnb4	A	G	2: 52,565,822 (GRCm39)	V21A	probably benign	Het
Caskin1	C	A	17: 24,720,103 (GRCm39)	P437T	probably benign	Het
Casz1	C	A	4: 149,029,028 (GRCm39)	P1158T	probably damaging	Het
Ccdc141	T	A	2: 76,954,680 (GRCm39)	Q189L	probably damaging	Het
Ccr3	T	C	9: 123,828,809 (GRCm39)	V48A	probably damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cert1	C	T	13: 96,752,995 (GRCm39)	P350S	probably benign	Het
Cfap20dc	A	T	14: 8,665,997 (GRCm38)	M1K	probably null	Het
Chd1	C	A	17: 15,953,386 (GRCm39)	S440R	probably damaging	Het
Clip1	T	A	5: 123,769,086 (GRCm39)	E504D	probably damaging	Het
Cmya5	T	C	13: 93,230,082 (GRCm39)	R1669G	probably benign	Het
Col11a2	T	A	17: 34,269,937 (GRCm39)	F456I	probably damaging	Het
Ctnna2	A	T	6: 76,957,764 (GRCm39)	M130K	probably damaging	Het
Elmo2	A	T	2: 165,133,922 (GRCm39)		probably benign	Het
F11	T	C	8: 45,708,379 (GRCm39)	D27G	probably damaging	Het
Faap100	A	T	11: 120,266,412 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,442,151 (GRCm39)	E1151G	probably damaging	Het
Fbll1	T	A	11: 35,688,652 (GRCm39)	I204F	probably damaging	Het
Gle1	T	A	2: 29,830,215 (GRCm39)	V257D	possibly damaging	Het
Hoxc9	T	A	15: 102,890,225 (GRCm39)	C47*	probably null	Het
Hsd17b6	A	G	10: 127,829,524 (GRCm39)	V226A	probably benign	Het
Hsd17b7	C	T	1: 169,788,764 (GRCm39)	R151Q	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ido2	A	G	8: 25,023,875 (GRCm39)	I321T	probably benign	Het
Irf2bp2	T	C	8: 127,318,172 (GRCm39)	T465A	probably benign	Het
Kdm2a	A	G	19: 4,412,815 (GRCm39)	M34T	probably damaging	Het
Kntc1	T	A	5: 123,928,196 (GRCm39)	L1231*	probably null	Het
Lca5l	A	C	16: 95,963,229 (GRCm39)	Y412*	probably null	Het
Lipt1	T	C	1: 37,914,513 (GRCm39)	S190P	possibly damaging	Het
Ly6f	T	A	15: 75,143,569 (GRCm39)	V92D	probably damaging	Het
Matn4	T	A	2: 164,235,151 (GRCm39)	M433L	probably benign	Het
Mbtd1	C	A	11: 93,816,528 (GRCm39)	P370T	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,417,922 (GRCm39)	C3623S	probably damaging	Het
Myt1l	C	A	12: 29,899,399 (GRCm39)	H134N	probably benign	Het
Nav2	A	T	7: 49,058,749 (GRCm39)		probably benign	Het
Ndufaf8	T	C	11: 119,989,992 (GRCm39)	C35R	probably damaging	Het
Neb	G	A	2: 52,094,891 (GRCm39)	T5130I	possibly damaging	Het
Nlrp9c	T	C	7: 26,079,989 (GRCm39)	N624S	possibly damaging	Het
Nr0b2	C	A	4: 133,283,334 (GRCm39)	H190Q	probably damaging	Het
Nrg4	A	G	9: 55,156,405 (GRCm39)		probably benign	Het
Nup88	A	T	11: 70,852,450 (GRCm39)	V215E	probably benign	Het
Oas2	T	G	5: 120,876,411 (GRCm39)	T511P	probably benign	Het
Or1e25	A	G	11: 73,493,426 (GRCm39)	T7A	possibly damaging	Het
Or2t6	A	G	14: 14,175,885 (GRCm38)	S66P	probably damaging	Het
Or5d14	A	C	2: 87,880,432 (GRCm39)	F179V	probably damaging	Het
Or5w8	T	C	2: 87,687,621 (GRCm39)	V34A	probably benign	Het
Or8g26	A	G	9: 39,095,501 (GRCm39)	N9S	probably benign	Het
Or9q1	A	C	19: 13,805,718 (GRCm39)	L14R	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,502 (GRCm39)	N164K	probably damaging	Het
Pde4d	C	G	13: 109,253,400 (GRCm39)	P76A	probably benign	Het
Phlda1	T	C	10: 111,343,516 (GRCm39)		probably benign	Het
Plekhh1	A	G	12: 79,101,577 (GRCm39)	T216A	probably benign	Het
Plppr3	T	A	10: 79,701,507 (GRCm39)	E445V	possibly damaging	Het
Prom1	A	G	5: 44,191,732 (GRCm39)	V337A	probably damaging	Het
Prr14l	T	C	5: 33,001,743 (GRCm39)		probably benign	Het
Psmd1	A	G	1: 86,064,820 (GRCm39)	I951V	probably benign	Het
Rab35	T	G	5: 115,781,454 (GRCm39)	I85M	possibly damaging	Het
Rad9a	A	T	19: 4,250,536 (GRCm39)	S93T	probably benign	Het
Ric1	G	A	19: 29,563,242 (GRCm39)	C555Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror2	T	A	13: 53,264,719 (GRCm39)	Q791L	probably benign	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Sdr16c5	C	T	4: 4,016,216 (GRCm39)	W70*	probably null	Het
Senp3	A	G	11: 69,568,821 (GRCm39)	V408A	probably benign	Het
Sh2d4b	C	A	14: 40,562,301 (GRCm39)	W288L	probably benign	Het
Slc38a9	A	T	13: 112,859,832 (GRCm39)	D422V	probably damaging	Het
Slc4a2	T	C	5: 24,645,141 (GRCm39)	F1104L	probably damaging	Het
Slc4a3	A	G	1: 75,527,267 (GRCm39)	K113E	possibly damaging	Het
Spata3	G	A	1: 85,952,048 (GRCm39)		probably null	Het
Spata31d1d	A	T	13: 59,877,055 (GRCm39)	V160E	possibly damaging	Het
Sprr2f	A	G	3: 92,273,203 (GRCm39)	M1V	probably null	Het
Sptbn1	A	G	11: 30,068,295 (GRCm39)	V1733A	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tardbp	A	G	4: 148,702,050 (GRCm39)	I295T	probably benign	Het
Tmem212	A	G	3: 27,939,157 (GRCm39)	S110P	probably damaging	Het
Tnc	G	A	4: 63,935,857 (GRCm39)	Q360*	probably null	Het
Tnrc6c	C	A	11: 117,613,731 (GRCm39)	Q630K	probably damaging	Het
Ttc19	G	A	11: 62,199,922 (GRCm39)	R235H	probably benign	Het
Ube3b	T	A	5: 114,553,787 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,062 (GRCm39)		probably null	Het
Vmn2r92	T	A	17: 18,372,183 (GRCm39)		probably benign	Het
Washc5	A	T	15: 59,205,485 (GRCm39)	Y685*	probably null	Het
Wdr93	T	A	7: 79,399,817 (GRCm39)	Y135*	probably null	Het
Wdr95	T	A	5: 149,518,797 (GRCm39)	I546K	probably damaging	Het
Zbtb38	T	A	9: 96,570,254 (GRCm39)	T277S	probably benign	Het
Zfp13	T	C	17: 23,795,797 (GRCm39)	D258G	possibly damaging	Het
Zfp397	T	A	18: 24,093,249 (GRCm39)	S245T	probably benign	Het
Zfp646	T	C	7: 127,482,907 (GRCm39)	Y1695H	probably benign	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
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
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'- GAGTCCCTGGATAATGCCTTAC -3'
(R):5'- TTGGACAGTTTAAAGATGCAAGTCC -3'

Sequencing Primer
(F):5'- TGGATAATGCCTTACATTCCCAAC -3'
(R):5'- AGATGCAAGTCCAAAGTTACATC -3'

Posted On

2016-03-01