Mutagenetix > Incidental Mutation

Incidental Mutation 'R1894:Klhl3'

211835

Institutional Source

Beutler Lab

Gene Symbol

Klhl3

Ensembl Gene

ENSMUSG00000014164

Gene Name

kelch-like 3

Synonyms

EG627648, 7530408C15Rik

MMRRC Submission

039914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58148042-58261406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58157189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 546 (D546G)

Ref Sequence

ENSEMBL: ENSMUSP00000123701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091583] [ENSMUST00000160860]

AlphaFold

E0CZ16

Predicted Effect

probably damaging
Transcript: ENSMUST00000091583
AA Change: D599G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164
AA Change: D599G

Domain	Start	End	E-Value	Type
BTB	103	200	9.36e-30	SMART
BACK	205	307	7.49e-42	SMART
Kelch	355	400	3.31e-9	SMART
Kelch	401	447	3.82e-14	SMART
Kelch	448	494	1.49e-16	SMART
Kelch	495	543	8.58e-17	SMART
Kelch	544	590	4.93e-17	SMART
Kelch	591	638	4.16e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160860
AA Change: D546G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
AA Change: D546G

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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Ago4	A	G	4: 126,406,393 (GRCm39)	Y306H	probably benign	Het
Cblc	T	C	7: 19,526,502 (GRCm39)	T196A	probably damaging	Het
Cfap52	T	A	11: 67,844,445 (GRCm39)		probably null	Het
Cops3	T	C	11: 59,710,844 (GRCm39)	N375S	probably benign	Het
Crb1	T	C	1: 139,170,931 (GRCm39)	T759A	probably benign	Het
Dnah3	T	C	7: 119,685,557 (GRCm39)	K153E	probably benign	Het
Elovl1	C	T	4: 118,287,945 (GRCm39)	S27F	probably damaging	Het
Erc2	A	G	14: 27,863,185 (GRCm39)	E804G	probably damaging	Het
Fam110b	G	T	4: 5,798,840 (GRCm39)	C86F	probably damaging	Het
Fbn1	T	A	2: 125,236,541 (GRCm39)	R380W	probably damaging	Het
Gatad2a	C	T	8: 70,369,301 (GRCm39)	R221Q	probably damaging	Het
Gcn1	C	T	5: 115,727,174 (GRCm39)	P677L	probably damaging	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,232,605 (GRCm39)	V136A	unknown	Het
Gmip	T	A	8: 70,273,622 (GRCm39)	L971H	probably damaging	Het
Gnptab	G	A	10: 88,254,989 (GRCm39)	E192K	possibly damaging	Het
Grm7	G	A	6: 111,335,568 (GRCm39)	V660I	probably benign	Het
Helz2	G	A	2: 180,876,082 (GRCm39)	P1471S	probably damaging	Het
Herc1	G	A	9: 66,386,743 (GRCm39)	G3786S	probably damaging	Het
Isg20	T	C	7: 78,569,647 (GRCm39)	V206A	probably benign	Het
Jund	T	A	8: 71,152,470 (GRCm39)	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,353,079 (GRCm39)	I263F	probably damaging	Het
Kif2c	A	T	4: 117,019,420 (GRCm39)	L561Q	probably benign	Het
Klk1b4	A	T	7: 43,859,054 (GRCm39)	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,834,735 (GRCm39)	C225S	probably damaging	Het
Mcub	T	C	3: 129,728,312 (GRCm39)	H55R	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Med18	G	A	4: 132,187,242 (GRCm39)	R86*	probably null	Het
Mfsd2b	T	C	12: 4,919,155 (GRCm39)	E63G	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Nfrkb	T	A	9: 31,326,064 (GRCm39)	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,004,419 (GRCm39)	M411L	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nup214	A	T	2: 31,886,392 (GRCm39)	T585S	possibly damaging	Het
Or5m13	C	T	2: 85,748,599 (GRCm39)	T110I	probably benign	Het
Or6c214	A	T	10: 129,590,943 (GRCm39)	C125*	probably null	Het
Or7e177	T	C	9: 20,211,633 (GRCm39)	S47P	probably benign	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pih1d1	T	A	7: 44,807,165 (GRCm39)	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,366,263 (GRCm39)	F181L	probably benign	Het
Prx	C	T	7: 27,218,535 (GRCm39)	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,754,199 (GRCm39)	V5E	probably damaging	Het
Rassf9	C	A	10: 102,380,755 (GRCm39)	R44S	possibly damaging	Het
Relch	A	T	1: 105,592,301 (GRCm39)	I157F	probably benign	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Sec16b	T	A	1: 157,380,545 (GRCm39)	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,085,937 (GRCm39)	I71N	probably damaging	Het
Slco5a1	C	T	1: 12,942,483 (GRCm39)	C721Y	probably damaging	Het
Slx4ip	A	T	2: 136,910,038 (GRCm39)	K344N	probably benign	Het
Sorcs3	A	T	19: 48,782,713 (GRCm39)	Q1076L	probably benign	Het
Spata21	A	T	4: 140,838,692 (GRCm39)	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,875,936 (GRCm39)	P533H	probably benign	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Tex14	T	G	11: 87,365,274 (GRCm39)	F61V	probably damaging	Het
Timp3	C	T	10: 86,181,716 (GRCm39)	R196*	probably null	Het
Tll2	A	G	19: 41,077,110 (GRCm39)		probably null	Het
Tppp	A	G	13: 74,169,326 (GRCm39)	D22G	possibly damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Uaca	T	C	9: 60,777,718 (GRCm39)	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,287,130 (GRCm39)	E146G	probably damaging	Het
Vmn1r233	T	C	17: 21,213,994 (GRCm39)	S319G	probably benign	Het
Wdr47	A	T	3: 108,530,692 (GRCm39)	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,989,319 (GRCm39)		probably null	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	probably damaging	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
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
R7652:Klhl3	UTSW	13	58,261,146 (GRCm39)	start gained	probably benign
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'- AGGAGGCTTTAGGTTCCCAG -3'
(R):5'- CACAGTAATGAAAACTCCCTGCTG -3'

Sequencing Primer
(F):5'- GCTTTAGGTTCCCAGCTAAGCAAG -3'
(R):5'- GCAGCCTCTCTAGAAATGGG -3'

Posted On

2014-06-30