Mutagenetix > Incidental Mutation

Incidental Mutation 'R0607:Klhl6'

54340

Institutional Source

Beutler Lab

Gene Symbol

Klhl6

Ensembl Gene

ENSMUSG00000043008

Gene Name

kelch-like 6

Synonyms

MMRRC Submission

038796-MU

Accession Numbers

Essential gene?

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

Stock #

R0607 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

19765242-19801766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19775764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 265 (D265Y)

Ref Sequence

ENSEMBL: ENSMUSP00000053023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058839] [ENSMUST00000166801]

AlphaFold

Q6V595

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058839
AA Change: D265Y

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: D265Y

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

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

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: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,625 (GRCm39)	E146G	probably benign	Het
Abca4	G	A	3: 121,950,081 (GRCm39)	G594S	probably damaging	Het
Acacb	T	C	5: 114,338,362 (GRCm39)	Y726H	probably damaging	Het
Adam20	T	A	8: 41,248,517 (GRCm39)	M209K	probably benign	Het
Adam29	A	G	8: 56,326,310 (GRCm39)	V48A	probably damaging	Het
Adss2	A	G	1: 177,595,253 (GRCm39)	V429A	possibly damaging	Het
Aff1	T	C	5: 103,976,320 (GRCm39)	S481P	probably damaging	Het
Akr1c19	G	A	13: 4,288,459 (GRCm39)	A146T	probably benign	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ankmy1	T	G	1: 92,816,397 (GRCm39)	Y239S	probably damaging	Het
Ankrd24	G	T	10: 81,474,142 (GRCm39)	C19F	probably damaging	Het
Apaf1	T	C	10: 90,845,065 (GRCm39)	H1002R	probably damaging	Het
Apc2	T	C	10: 80,149,935 (GRCm39)	I1663T	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atl3	T	C	19: 7,507,031 (GRCm39)		probably null	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Cacna1a	A	G	8: 85,356,460 (GRCm39)	D1901G	probably damaging	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cdh18	T	C	15: 23,410,876 (GRCm39)	Y454H	probably benign	Het
Celf5	G	A	10: 81,301,839 (GRCm39)	T317I	probably damaging	Het
Celsr2	A	T	3: 108,311,211 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,414,660 (GRCm39)		probably null	Het
Cep350	T	C	1: 155,747,794 (GRCm39)	D2042G	probably damaging	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chgb	A	G	2: 132,635,255 (GRCm39)	H399R	probably benign	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Col15a1	A	G	4: 47,282,654 (GRCm39)	N777S	probably damaging	Het
Coq6	A	G	12: 84,415,412 (GRCm39)	D145G	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp4x1	T	A	4: 114,970,023 (GRCm39)	D368V	probably damaging	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
D6Ertd527e	A	C	6: 87,088,887 (GRCm39)	D350A	unknown	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dgka	A	G	10: 128,556,338 (GRCm39)		probably null	Het
Dhx38	A	T	8: 110,285,575 (GRCm39)	D419E	probably benign	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dlg1	C	A	16: 31,484,398 (GRCm39)	Q9K	probably benign	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Egfl7	C	T	2: 26,479,452 (GRCm39)	T68I	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Entpd3	A	G	9: 120,386,471 (GRCm39)	T151A	possibly damaging	Het
Ero1b	A	G	13: 12,589,747 (GRCm39)	D50G	probably damaging	Het
Fam219a	A	G	4: 41,520,242 (GRCm39)	*169Q	probably null	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gja1	A	G	10: 56,264,166 (GRCm39)	Y175C	possibly damaging	Het
Gm5478	T	A	15: 101,553,059 (GRCm39)	I338F	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
Grk3	C	T	5: 113,067,919 (GRCm39)	E537K	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Hcrtr2	A	G	9: 76,137,966 (GRCm39)	L383P	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ikbke	A	T	1: 131,197,921 (GRCm39)		probably null	Het
Il1r2	A	G	1: 40,144,615 (GRCm39)	K101E	probably benign	Het
Itga11	A	T	9: 62,681,653 (GRCm39)	H1054L	probably benign	Het
Kif13a	A	T	13: 46,956,187 (GRCm39)	V539D	probably damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl28	A	G	12: 64,998,529 (GRCm39)	Y322H	probably damaging	Het
Krt86	T	A	15: 101,377,412 (GRCm39)	C479S	unknown	Het
Lama2	C	T	10: 27,065,127 (GRCm39)	R1179H	probably benign	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lcn11	T	C	2: 25,669,305 (GRCm39)	V154A	probably benign	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc49	C	T	9: 60,573,640 (GRCm39)	V281I	probably benign	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mdn1	C	T	4: 32,712,014 (GRCm39)	P1844L	probably damaging	Het
Mdn1	T	A	4: 32,732,829 (GRCm39)	D3076E	probably benign	Het
Med6	A	T	12: 81,635,798 (GRCm39)	L27H	probably damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Myo9a	T	A	9: 59,829,076 (GRCm39)	M2376K	probably benign	Het
Nell2	G	A	15: 95,127,095 (GRCm39)	T760I	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nopchap1	T	C	10: 83,197,961 (GRCm39)	S56P	probably benign	Het
Npr3	T	A	15: 11,845,368 (GRCm39)	K501N	probably benign	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Oacyl	A	T	18: 65,880,962 (GRCm39)	Q592L	possibly damaging	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or4a71	A	G	2: 89,358,451 (GRCm39)	V101A	possibly damaging	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5b122	T	A	19: 13,563,534 (GRCm39)	Y289N	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Or6c76b	T	G	10: 129,693,070 (GRCm39)	S228A	possibly damaging	Het
Or8k25	T	A	2: 86,243,514 (GRCm39)	N294I	probably damaging	Het
Or9k7	T	C	10: 130,046,939 (GRCm39)	E20G	probably benign	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Polr2b	T	C	5: 77,461,006 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdm11	G	T	2: 92,844,130 (GRCm39)	D33E	possibly damaging	Het
Prkdc	A	G	16: 15,589,921 (GRCm39)	S2595G	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prrc2b	G	T	2: 32,103,882 (GRCm39)	R1120L	probably damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Raph1	A	T	1: 60,565,028 (GRCm39)	L153Q	probably damaging	Het
Reck	A	G	4: 43,940,719 (GRCm39)	T843A	probably benign	Het
Rgs7bp	T	C	13: 105,103,610 (GRCm39)	N164D	probably benign	Het
Rpusd4	C	A	9: 35,179,289 (GRCm39)	A35D	possibly damaging	Het
Setd1b	T	C	5: 123,298,014 (GRCm39)		probably benign	Het
Siglec15	G	T	18: 78,089,352 (GRCm39)	D297E	probably benign	Het
Skint7	T	A	4: 111,834,656 (GRCm39)	C13*	probably null	Het
Slc5a12	A	G	2: 110,463,088 (GRCm39)	M395V	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srgap3	A	T	6: 112,700,080 (GRCm39)	V966E	probably damaging	Het
Stk4	C	T	2: 163,940,462 (GRCm39)	P266L	probably damaging	Het
Stxbp5l	G	A	16: 36,962,794 (GRCm39)	H754Y	probably benign	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Tas2r136	T	C	6: 132,754,375 (GRCm39)	I251V	probably benign	Het
Tecpr1	C	T	5: 144,149,408 (GRCm39)	V340M	probably damaging	Het
Tecta	C	T	9: 42,299,501 (GRCm39)	G196S	probably damaging	Het
Tex55	A	C	16: 38,648,726 (GRCm39)	S128A	probably benign	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Timeless	T	C	10: 128,082,203 (GRCm39)	V577A	probably benign	Het
Tln1	A	T	4: 43,553,071 (GRCm39)	V340E	probably damaging	Het
Tmem132c	T	A	5: 127,640,617 (GRCm39)	Y929*	probably null	Het
Tmprss7	C	T	16: 45,489,914 (GRCm39)	R436Q	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Trpm6	C	A	19: 18,849,585 (GRCm39)	T1704N	probably benign	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttc22	T	C	4: 106,496,510 (GRCm39)	V520A	possibly damaging	Het
Ttc3	T	A	16: 94,257,644 (GRCm39)	Y1650*	probably null	Het
Vmn2r24	A	G	6: 123,763,893 (GRCm39)	T257A	probably benign	Het
Xab2	A	C	8: 3,663,605 (GRCm39)	N408K	probably benign	Het
Zbtb42	A	T	12: 112,647,061 (GRCm39)	Y412F	probably benign	Het
Zfp282	A	G	6: 47,857,303 (GRCm39)	N179D	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	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
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'- GTGGACAAGAGTCCCTGGATAATGC -3'
(R):5'- TGGCAGACACACATTCTTTGGACAG -3'

Sequencing Primer
(F):5'- AGAGTCCCTGGATAATGCCTTAC -3'
(R):5'- TGGACAGTTTAAAGATGCAAGTC -3'

Posted On

2013-07-11