Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Klhl3'

715668

Institutional Source

Beutler Lab

Gene Symbol

Klhl3

Ensembl Gene

ENSMUSG00000014164

Gene Name

kelch-like 3

Synonyms

EG627648, 7530408C15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58000228-58113592 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58019459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 364 (P364S)

Ref Sequence

ENSEMBL: ENSMUSP00000089173 (fasta)

Gene Model

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

AlphaFold

E0CZ16

Predicted Effect

probably damaging
Transcript: ENSMUST00000091583
AA Change: P364S

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

SMART Domains

Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164
AA Change: P364S

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: P311S

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

SMART Domains

Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
AA Change: P311S

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: 98.6%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 79,067,731	K250N	probably damaging	Het
9530077C05Rik	T	C	9: 22,431,719	M303T	probably damaging	Het
Adam5	A	T	8: 24,747,524	D623E	possibly damaging	Het
Akt3	T	C	1: 177,025,386	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,755,617	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,911,166	T908S	probably benign	Het
Clec7a	G	A	6: 129,463,163	Q160*	probably null	Het
Cntnap4	T	A	8: 112,733,471	I152N	probably damaging	Het
Ctdspl	C	T	9: 119,037,377	A179V	probably damaging	Het
Ddx43	T	C	9: 78,406,386	S200P	probably damaging	Het
Dip2c	A	G	13: 9,494,927	D84G	unknown	Het
Dmbt1	G	A	7: 131,074,257	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
E2f7	C	T	10: 110,767,189	T355I	probably damaging	Het
E2f7	C	A	10: 110,779,057	L541M	probably damaging	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Emc1	T	A	4: 139,366,394	L605Q	probably damaging	Het
Fras1	T	A	5: 96,739,265	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,108,347	G195E	probably damaging	Het
Galm	A	G	17: 80,150,132	D199G	possibly damaging	Het
Galntl6	T	G	8: 57,777,325	S20R	probably damaging	Het
Gm21671	A	T	5: 25,953,138	I72N	probably damaging	Het
Grb14	T	G	2: 64,938,400	Y189S	probably damaging	Het
Hk2	T	A	6: 82,728,914	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,630,720	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,659,895	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,233,424	K68N	possibly damaging	Het
Inhba	A	C	13: 16,017,678	E128A	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Lhpp	T	C	7: 132,641,583	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Lrp3	A	G	7: 35,204,064	F286L	probably damaging	Het
Lrrc7	T	C	3: 158,135,391	T1337A	probably benign	Het
Magi2	A	G	5: 20,195,021	D17G	probably benign	Het
Map3k21	T	C	8: 125,924,164	S302P	probably damaging	Het
Mbtd1	A	G	11: 93,925,685	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,866,820	D306E	possibly damaging	Het
Muc20	T	C	16: 32,794,083	E308G	probably damaging	Het
Myh13	G	A	11: 67,364,886	S34N		Het
Nebl	C	A	2: 17,369,610	G894*	probably null	Het
Nelfa	A	G	5: 33,898,751	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,187,600	D13G	probably benign	Het
Ninl	A	T	2: 150,940,806	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,065,627	V176M	possibly damaging	Het
Nobox	G	A	6: 43,307,181	R144C	probably damaging	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1099	A	G	2: 86,959,413	M15T	probably benign	Het
Olfr1153	T	C	2: 87,896,349	M50T	probably benign	Het
Olfr1254	A	C	2: 89,789,162	Y63*	probably null	Het
Olfr1348	A	G	7: 6,502,151	L25P	probably benign	Het
Olfr1356	T	C	10: 78,847,057	N286S	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,270	Y184F	probably damaging	Het
Orai1	A	G	5: 123,029,238	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,563,098	V121L	probably benign	Het
Pclo	T	C	5: 14,521,236	S212P	possibly damaging	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Plg	A	G	17: 12,403,137	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,323,217	N330K	probably damaging	Het
Pou2f2	A	G	7: 25,094,822	L373S	probably benign	Het
Rnpep	A	G	1: 135,283,603	F136L	probably benign	Het
Rp1	A	G	1: 4,092,615		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404		probably benign	Het
Slc5a5	T	C	8: 70,884,952	D574G	probably benign	Het
Slc7a15	T	A	12: 8,538,794	N251I	probably damaging	Het
Susd4	T	C	1: 182,892,100	S427P	probably benign	Het
Tarbp1	T	A	8: 126,429,040	T1320S	probably benign	Het
Tbpl2	C	T	2: 24,094,638	V166I	probably benign	Het
Thbs1	T	C	2: 118,120,037		probably null	Het
Tnfsf13b	A	G	8: 10,031,648	Y270C	probably damaging	Het
Vps11	G	T	9: 44,348,993	C857*	probably null	Het
Vsig10	G	A	5: 117,325,039	R110H	probably benign	Het
Wee2	T	A	6: 40,455,110	Y204*	probably null	Het
Zfpm2	T	A	15: 41,103,471	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,231,473	N166S	probably benign	Het

Other mutations in Klhl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01790:Klhl3	APN	13	58009422	critical splice acceptor site	probably null
IGL01984:Klhl3	APN	13	58011243	splice site	probably benign
IGL02022:Klhl3	APN	13	58051064	missense	possibly damaging	0.95
IGL02543:Klhl3	APN	13	58018871	missense	probably damaging	1.00
bearded_dragon	UTSW	13	58011152	missense	probably benign	0.00
R0975:Klhl3	UTSW	13	58013863	missense	possibly damaging	0.81
R1386:Klhl3	UTSW	13	58030433	missense	probably damaging	0.99
R1588:Klhl3	UTSW	13	58013898	missense	probably damaging	1.00
R1791:Klhl3	UTSW	13	58033230	missense	possibly damaging	0.87
R1894:Klhl3	UTSW	13	58009375	missense	probably damaging	1.00
R1953:Klhl3	UTSW	13	58011208	missense	probably damaging	1.00
R2116:Klhl3	UTSW	13	58018991	missense	probably damaging	0.99
R3114:Klhl3	UTSW	13	58051027	critical splice donor site	probably null
R4082:Klhl3	UTSW	13	58018797	missense	probably null	1.00
R4717:Klhl3	UTSW	13	58030516	missense	probably damaging	1.00
R4857:Klhl3	UTSW	13	58018806	missense	probably damaging	1.00
R4934:Klhl3	UTSW	13	58102417	nonsense	probably null
R5112:Klhl3	UTSW	13	58018889	missense	probably damaging	1.00
R5114:Klhl3	UTSW	13	58018967	missense	probably benign	0.24
R5547:Klhl3	UTSW	13	58102429	splice site	probably null
R5776:Klhl3	UTSW	13	58005184	missense	probably benign	0.00
R6236:Klhl3	UTSW	13	58085062	missense	probably damaging	1.00
R6268:Klhl3	UTSW	13	58013842	missense	probably damaging	1.00
R6457:Klhl3	UTSW	13	58100378	missense	probably benign	0.01
R6559:Klhl3	UTSW	13	58016476	missense	probably damaging	1.00
R6580:Klhl3	UTSW	13	58018887	missense	possibly damaging	0.75
R6601:Klhl3	UTSW	13	58095116	missense	probably damaging	0.96
R6669:Klhl3	UTSW	13	58011152	missense	probably benign	0.00
R6904:Klhl3	UTSW	13	58030445	missense	probably damaging	1.00
R7652:Klhl3	UTSW	13	58113332	start gained	probably benign
R7979:Klhl3	UTSW	13	58063797	missense	probably benign	0.39
R8112:Klhl3	UTSW	13	58013863	missense	possibly damaging	0.81
R8114:Klhl3	UTSW	13	58013863	missense	possibly damaging	0.81
R8270:Klhl3	UTSW	13	58113154	missense
R8409:Klhl3	UTSW	13	58019428	missense	probably damaging	1.00
R8742:Klhl3	UTSW	13	58011207	missense	probably damaging	1.00
R9112:Klhl3	UTSW	13	58100398	missense	unknown
R9396:Klhl3	UTSW	13	58013848	missense	probably damaging	1.00
R9568:Klhl3	UTSW	13	58009312	missense	probably damaging	0.99
R9636:Klhl3	UTSW	13	58051049	missense	probably damaging	1.00
Z1177:Klhl3	UTSW	13	58009409	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCCATCATGAGGCAGACATC -3'
(R):5'- CAGGCTTTCCTTGAATATGCAC -3'

Sequencing Primer
(F):5'- CATCATGAGGCAGACATCAGCTG -3'
(R):5'- GGTTTTACTGCCGTGAACAGACAC -3'

Posted On

2022-06-15