Mutagenetix > Incidental Mutation

Incidental Mutation 'R7652:Klhl3'

590938

Institutional Source

Beutler Lab

Gene Symbol

Klhl3

Ensembl Gene

ENSMUSG00000014164

Gene Name

kelch-like 3

Synonyms

EG627648, 7530408C15Rik

MMRRC Submission

045729-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58148042-58261406 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 58261146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160860]

AlphaFold

E0CZ16

Predicted Effect

probably benign
Transcript: ENSMUST00000160860

SMART Domains

Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164

Domain	Start	End	E-Value	Type
BTB	64	161	9.36e-30	SMART
BACK	166	268	7.49e-42	SMART
Kelch	316	361	3.31e-9	SMART
Kelch	362	408	3.82e-14	SMART
Kelch	409	455	1.49e-16	SMART
Kelch	456	504	8.58e-17	SMART
Kelch	505	551	4.93e-17	SMART
Kelch	552	599	4.16e-15	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice carrying a point mutation display salt-sensitive hypertension, hyperkalemia and metabolic acidosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,253,675 (GRCm39)		probably null	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Anxa2r2	A	T	13: 120,488,529 (GRCm39)	S7T	possibly damaging	Het
Aph1b	T	C	9: 66,691,823 (GRCm39)	T195A	probably benign	Het
Apoe	G	T	7: 19,430,535 (GRCm39)	R236S	possibly damaging	Het
Arap3	G	T	18: 38,111,505 (GRCm39)	T1137K	probably damaging	Het
Arhgap45	C	T	10: 79,864,672 (GRCm39)	A908V	probably benign	Het
Atp13a1	T	C	8: 70,258,209 (GRCm39)	C965R	probably damaging	Het
C7	A	G	15: 5,041,587 (GRCm39)	Y440H	probably damaging	Het
Cacna2d2	T	C	9: 107,401,397 (GRCm39)		probably null	Het
Ddah2	C	A	17: 35,280,026 (GRCm39)	R173S	possibly damaging	Het
Dnajc11	T	C	4: 152,058,682 (GRCm39)	Y337H	probably damaging	Het
Dnajc25	A	G	4: 59,020,483 (GRCm39)	K302R	probably benign	Het
Dnajc6	A	T	4: 101,463,874 (GRCm39)	Q209L	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Ebf2	G	T	14: 67,628,016 (GRCm39)		probably null	Het
Epx	A	G	11: 87,766,160 (GRCm39)		probably null	Het
Eqtn	T	C	4: 94,816,574 (GRCm39)	Y73C	probably damaging	Het
Fam107b	A	G	2: 3,773,884 (GRCm39)	N21S	probably benign	Het
Fasn	G	A	11: 120,707,154 (GRCm39)	S857F	probably damaging	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Gas8	A	G	8: 124,253,275 (GRCm39)	I208V	probably benign	Het
Gm3269	T	C	14: 16,026,209 (GRCm39)	I88T	probably benign	Het
Gm8005	C	A	14: 42,258,919 (GRCm39)	L136F		Het
Grid2ip	C	A	5: 143,368,393 (GRCm39)	P743Q	probably damaging	Het
H2-T15	A	T	17: 36,367,675 (GRCm39)	V221D	probably damaging	Het
Hbs1l	C	T	10: 21,240,659 (GRCm39)	T626I	probably benign	Het
Hdac3	T	A	18: 38,087,972 (GRCm39)		probably benign	Het
Hnrnpab	T	C	11: 51,496,400 (GRCm39)	Y94C	probably damaging	Het
Homer2	T	C	7: 81,299,414 (GRCm39)	D17G	probably damaging	Het
Ikbke	C	T	1: 131,199,569 (GRCm39)	R308Q	probably damaging	Het
Ints10	A	G	8: 69,277,771 (GRCm39)	T682A	possibly damaging	Het
Klk1b9	A	T	7: 43,445,514 (GRCm39)	T235S	probably benign	Het
Kmt2c	T	C	5: 25,520,717 (GRCm39)	T1798A	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,192,352 (GRCm39)		probably benign	Het
Krtap4-6	T	C	11: 99,556,440 (GRCm39)	I96V	unknown	Het
Lef1	A	C	3: 130,994,003 (GRCm39)	R354S	probably damaging	Het
Lrp6	A	T	6: 134,488,208 (GRCm39)	L296*	probably null	Het
Maml2	T	C	9: 13,532,945 (GRCm39)	Y720H		Het
Mmrn1	A	G	6: 60,954,490 (GRCm39)	N924D	probably benign	Het
Myh7b	A	G	2: 155,474,156 (GRCm39)	K1624E	probably damaging	Het
Nos3	T	A	5: 24,588,610 (GRCm39)	V1112D	probably damaging	Het
Or2y14	T	C	11: 49,404,512 (GRCm39)	F16L	probably damaging	Het
Or4c111	C	T	2: 88,843,893 (GRCm39)	V172I	probably benign	Het
Or5an1b	C	A	19: 12,299,651 (GRCm39)	C180F	probably damaging	Het
Or5w13	A	G	2: 87,523,704 (GRCm39)	I174T	probably damaging	Het
Or6c70	A	T	10: 129,710,346 (GRCm39)	N93K	probably damaging	Het
Phospho1	T	C	11: 95,721,645 (GRCm39)	L105S	probably damaging	Het
Prss35	T	A	9: 86,638,023 (GRCm39)	N264K	probably benign	Het
Ptpn13	A	G	5: 103,677,578 (GRCm39)	D732G	probably benign	Het
Rab18	A	T	18: 6,783,123 (GRCm39)	T64S	possibly damaging	Het
Rft1	A	G	14: 30,399,773 (GRCm39)	Q319R	probably benign	Het
Rgs7	T	A	1: 174,921,396 (GRCm39)	M220L	probably benign	Het
Rnf13	A	G	3: 57,671,772 (GRCm39)	N28S	probably benign	Het
Setd3	A	T	12: 108,078,548 (GRCm39)	I311N	probably damaging	Het
Setd5	G	A	6: 113,098,725 (GRCm39)	R786H	probably damaging	Het
Slc26a6	T	C	9: 108,733,143 (GRCm39)		probably null	Het
Slc26a9	A	T	1: 131,691,634 (GRCm39)	T626S	probably benign	Het
Stambp	A	T	6: 83,540,910 (GRCm39)		probably null	Het
Stom	A	T	2: 35,206,041 (GRCm39)	N229K	probably benign	Het
Tlr1	A	T	5: 65,084,130 (GRCm39)	L149*	probably null	Het
Trpc3	C	A	3: 36,692,677 (GRCm39)	V772F	probably benign	Het
Ube3a	A	G	7: 58,893,102 (GRCm39)		probably benign	Het
Ugt2b35	T	A	5: 87,149,369 (GRCm39)	F207I	probably damaging	Het
Usp53	A	T	3: 122,746,884 (GRCm39)	D360E	possibly damaging	Het
Vmn2r96	T	G	17: 18,793,832 (GRCm39)	S59A	probably benign	Het
Wdr70	A	G	15: 8,108,700 (GRCm39)	C149R	probably benign	Het
Wnt3	A	G	11: 103,703,290 (GRCm39)	T258A	possibly damaging	Het
Zfp729b	T	C	13: 67,739,371 (GRCm39)	T965A	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Klhl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01790:Klhl3	APN	13	58,157,236 (GRCm39)	critical splice acceptor site	probably null
IGL01984:Klhl3	APN	13	58,159,057 (GRCm39)	splice site	probably benign
IGL02022:Klhl3	APN	13	58,198,878 (GRCm39)	missense	possibly damaging	0.95
IGL02543:Klhl3	APN	13	58,166,685 (GRCm39)	missense	probably damaging	1.00
bearded_dragon	UTSW	13	58,158,966 (GRCm39)	missense	probably benign	0.00
R0975:Klhl3	UTSW	13	58,161,677 (GRCm39)	missense	possibly damaging	0.81
R1386:Klhl3	UTSW	13	58,178,247 (GRCm39)	missense	probably damaging	0.99
R1588:Klhl3	UTSW	13	58,161,712 (GRCm39)	missense	probably damaging	1.00
R1791:Klhl3	UTSW	13	58,181,044 (GRCm39)	missense	possibly damaging	0.87
R1894:Klhl3	UTSW	13	58,157,189 (GRCm39)	missense	probably damaging	1.00
R1953:Klhl3	UTSW	13	58,159,022 (GRCm39)	missense	probably damaging	1.00
R2116:Klhl3	UTSW	13	58,166,805 (GRCm39)	missense	probably damaging	0.99
R3114:Klhl3	UTSW	13	58,198,841 (GRCm39)	critical splice donor site	probably null
R4082:Klhl3	UTSW	13	58,166,611 (GRCm39)	missense	probably null	1.00
R4717:Klhl3	UTSW	13	58,178,330 (GRCm39)	missense	probably damaging	1.00
R4857:Klhl3	UTSW	13	58,166,620 (GRCm39)	missense	probably damaging	1.00
R4934:Klhl3	UTSW	13	58,250,231 (GRCm39)	nonsense	probably null
R5112:Klhl3	UTSW	13	58,166,703 (GRCm39)	missense	probably damaging	1.00
R5114:Klhl3	UTSW	13	58,166,781 (GRCm39)	missense	probably benign	0.24
R5547:Klhl3	UTSW	13	58,250,243 (GRCm39)	splice site	probably null
R5776:Klhl3	UTSW	13	58,152,998 (GRCm39)	missense	probably benign	0.00
R6236:Klhl3	UTSW	13	58,232,876 (GRCm39)	missense	probably damaging	1.00
R6268:Klhl3	UTSW	13	58,161,656 (GRCm39)	missense	probably damaging	1.00
R6457:Klhl3	UTSW	13	58,248,192 (GRCm39)	missense	probably benign	0.01
R6559:Klhl3	UTSW	13	58,164,290 (GRCm39)	missense	probably damaging	1.00
R6580:Klhl3	UTSW	13	58,166,701 (GRCm39)	missense	possibly damaging	0.75
R6601:Klhl3	UTSW	13	58,242,930 (GRCm39)	missense	probably damaging	0.96
R6669:Klhl3	UTSW	13	58,158,966 (GRCm39)	missense	probably benign	0.00
R6904:Klhl3	UTSW	13	58,178,259 (GRCm39)	missense	probably damaging	1.00
R7979:Klhl3	UTSW	13	58,211,611 (GRCm39)	missense	probably benign	0.39
R8112:Klhl3	UTSW	13	58,161,677 (GRCm39)	missense	possibly damaging	0.81
R8114:Klhl3	UTSW	13	58,161,677 (GRCm39)	missense	possibly damaging	0.81
R8270:Klhl3	UTSW	13	58,260,968 (GRCm39)	missense
R8409:Klhl3	UTSW	13	58,167,242 (GRCm39)	missense	probably damaging	1.00
R8742:Klhl3	UTSW	13	58,159,021 (GRCm39)	missense	probably damaging	1.00
R9112:Klhl3	UTSW	13	58,248,212 (GRCm39)	missense	unknown
R9396:Klhl3	UTSW	13	58,161,662 (GRCm39)	missense	probably damaging	1.00
R9474:Klhl3	UTSW	13	58,167,273 (GRCm39)	missense	probably damaging	1.00
R9568:Klhl3	UTSW	13	58,157,126 (GRCm39)	missense	probably damaging	0.99
R9636:Klhl3	UTSW	13	58,198,863 (GRCm39)	missense	probably damaging	1.00
Z1177:Klhl3	UTSW	13	58,157,223 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACACATACGTACCTTTCGCC -3'
(R):5'- TGCCTGAGCAGATGTGGAAAC -3'

Sequencing Primer
(F):5'- TCGCCCTCCATTGTGGG -3'
(R):5'- CAGCTGGAAAGGTGGCAC -3'

Posted On

2019-10-24