Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Wnk4'

225404

Institutional Source

Beutler Lab

Gene Symbol

Wnk4

Ensembl Gene

ENSMUSG00000035112

Gene Name

WNK lysine deficient protein kinase 4

Synonyms

2010002J11Rik, Prkwnk4

MMRRC Submission

040014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101260567-101277409 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101263890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 302 (C302R)

Ref Sequence

ENSEMBL: ENSMUSP00000131298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042477] [ENSMUST00000100414] [ENSMUST00000103108] [ENSMUST00000107280] [ENSMUST00000121331] [ENSMUST00000128260] [ENSMUST00000139487] [ENSMUST00000144306] [ENSMUST00000147741] [ENSMUST00000170056]

AlphaFold

Q80UE6

Predicted Effect

probably benign
Transcript: ENSMUST00000042477

SMART Domains

Protein: ENSMUSP00000042088
Gene: ENSMUSG00000078656

Domain	Start	End	E-Value	Type
Pfam:ESCRT-II	9	147	1.3e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100414

SMART Domains

Protein: ENSMUSP00000097981
Gene: ENSMUSG00000078656

Domain	Start	End	E-Value	Type
Pfam:ESCRT-II	9	144	5e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103108
AA Change: C302R

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

SMART Domains

Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: C302R

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
low complexity region	76	92	N/A	INTRINSIC
low complexity region	95	105	N/A	INTRINSIC
low complexity region	126	155	N/A	INTRINSIC
Pfam:Pkinase_Tyr	171	427	4.7e-42	PFAM
Pfam:Pkinase	171	429	9e-55	PFAM
Pfam:OSR1_C	450	486	3e-18	PFAM
low complexity region	503	513	N/A	INTRINSIC
low complexity region	516	530	N/A	INTRINSIC
low complexity region	544	560	N/A	INTRINSIC
low complexity region	627	638	N/A	INTRINSIC
low complexity region	660	678	N/A	INTRINSIC
low complexity region	757	778	N/A	INTRINSIC
low complexity region	793	808	N/A	INTRINSIC
low complexity region	841	877	N/A	INTRINSIC
low complexity region	882	915	N/A	INTRINSIC
low complexity region	921	951	N/A	INTRINSIC
low complexity region	1014	1033	N/A	INTRINSIC
low complexity region	1093	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107280

SMART Domains

Protein: ENSMUSP00000102901
Gene: ENSMUSG00000078656

Domain	Start	End	E-Value	Type
Pfam:ESCRT-II	10	153	7.2e-56	PFAM
low complexity region	155	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121331

SMART Domains

Protein: ENSMUSP00000114100
Gene: ENSMUSG00000078656

Domain	Start	End	E-Value	Type
Pfam:ESCRT-II	1	99	1.8e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123529

Predicted Effect

probably benign
Transcript: ENSMUST00000128260

SMART Domains

Protein: ENSMUSP00000127718
Gene: ENSMUSG00000001240

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000139487
AA Change: V285A

SMART Domains

Protein: ENSMUSP00000129666
Gene: ENSMUSG00000035112
AA Change: V285A

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
low complexity region	76	92	N/A	INTRINSIC
low complexity region	95	105	N/A	INTRINSIC
low complexity region	126	155	N/A	INTRINSIC
Pfam:Pkinase_Tyr	171	242	4e-8	PFAM
Pfam:Pkinase	171	252	1.9e-10	PFAM
low complexity region	269	283	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144306

SMART Domains

Protein: ENSMUSP00000131026
Gene: ENSMUSG00000078656

Domain	Start	End	E-Value	Type
Pfam:ESCRT-II	9	91	2.5e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000147741
AA Change: C302R

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

SMART Domains

Protein: ENSMUSP00000131298
Gene: ENSMUSG00000035112
AA Change: C302R

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
low complexity region	76	92	N/A	INTRINSIC
low complexity region	95	105	N/A	INTRINSIC
low complexity region	126	155	N/A	INTRINSIC
Pfam:Pkinase	171	394	9.3e-50	PFAM
Pfam:Pkinase_Tyr	171	399	3.7e-38	PFAM
low complexity region	401	413	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156205

Predicted Effect

probably benign
Transcript: ENSMUST00000170056

SMART Domains

Protein: ENSMUSP00000132123
Gene: ENSMUSG00000035112

Domain	Start	End	E-Value	Type
Pfam:OSR1_C	13	49	8.6e-20	PFAM
low complexity region	66	76	N/A	INTRINSIC
low complexity region	79	93	N/A	INTRINSIC
low complexity region	107	123	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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 WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele display increased Na+, K+ and Cl- urinary excretion, alkalosis and decreased plasma Cl-, K+, Mg2+ and renin levels. Mice homozygous for a point mutation exhibit acidosis, hypertension, increased circulating potassium levels and decreased potassium excretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,877,827	A961V	probably benign	Het
Adcy10	A	G	1: 165,525,022	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,111,718	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,574,215	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,668	S314R	probably damaging	Het
Apc	T	C	18: 34,310,909		probably null	Het
Atg9a	T	A	1: 75,185,991	Q460L	probably benign	Het
Birc3	C	T	9: 7,860,341	C292Y	probably damaging	Het
Capn5	T	C	7: 98,129,363	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,726,373		probably null	Het
Cdh22	T	A	2: 165,180,923	E76V	probably damaging	Het
Cdh8	T	C	8: 99,033,471		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,921,956		probably benign	Het
Cfap54	T	A	10: 92,884,768	D2608V	unknown	Het
Crebrf	T	C	17: 26,742,883	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,345	M136K	probably damaging	Het
Ddx10	A	G	9: 53,240,475		probably null	Het
Ddx47	A	G	6: 135,018,121	N92S	probably benign	Het
Ddx50	T	A	10: 62,640,464	H306L	probably benign	Het
Dnajc27	A	G	12: 4,097,317	T167A	possibly damaging	Het
Dscam	T	G	16: 97,038,920	K162N	probably benign	Het
Eif4h	G	A	5: 134,627,677	T53I	probably benign	Het
Elmo2	T	C	2: 165,298,279	N332S	probably benign	Het
Ergic3	A	G	2: 156,011,108	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,513,274	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,900,069	A151T	probably benign	Het
Foxf2	G	T	13: 31,626,141	R21L	unknown	Het
Gmip	T	A	8: 69,814,043	H269Q	probably benign	Het
Gng4	T	A	13: 13,806,166	V32E	probably benign	Het
Grm3	T	C	5: 9,589,793	Y84C	possibly damaging	Het
Helz2	C	T	2: 181,231,329	R2396H	probably benign	Het
Icosl	A	T	10: 78,071,953	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,814,058	N16K	probably benign	Het
Kcnt2	A	G	1: 140,553,018	M824V	probably damaging	Het
Mki67	T	A	7: 135,698,509	K1599*	probably null	Het
Mmp25	G	A	17: 23,640,242	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,976,084	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,917,158	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351	D445E	probably benign	Het
Npbwr1	T	A	1: 5,916,351	S315C	probably damaging	Het
Olfr1118	T	A	2: 87,309,448	S240T	probably benign	Het
Olfr1166	A	G	2: 88,124,547	L146P	probably damaging	Het
Olfr378	A	T	11: 73,425,239	V248E	probably damaging	Het
Olfr828	G	A	9: 18,815,505	S263L	probably benign	Het
Pard3b	A	T	1: 62,144,891	E183D	probably benign	Het
Pde10a	G	A	17: 8,929,091		probably null	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695		probably benign	Het
Rc3h2	T	A	2: 37,389,753	K461*	probably null	Het
Reep2	C	T	18: 34,845,621	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,340,810	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,770	F708I	possibly damaging	Het
Robo2	G	A	16: 73,933,115	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,389,535	V112I	probably benign	Het
Sec16a	A	C	2: 26,439,080	S974R	probably benign	Het
Sfrp5	A	G	19: 42,198,836	M265T	probably benign	Het
Skint7	T	C	4: 111,984,850	I305T	probably benign	Het
Slc6a7	T	C	18: 61,001,641	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,081,489	I407T	probably damaging	Het
Slfn8	A	T	11: 83,004,150	M610K	probably damaging	Het
Spidr	A	G	16: 16,048,049	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,366,419	W2034*	probably null	Het
Stard9	T	A	2: 120,664,945	F100L	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stc1	T	C	14: 69,031,647		probably null	Het
Sun2	T	C	15: 79,726,624	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,731,550	S511P	probably damaging	Het
Tasp1	T	G	2: 139,977,678	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,628,655	F501L	probably damaging	Het
Tgds	A	G	14: 118,130,656	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 89,104,166	T860I	probably benign	Het
Twf1	C	T	15: 94,585,447		probably null	Het
Vangl1	A	G	3: 102,163,466	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,477,644	I263T	probably damaging	Het
Washc5	A	G	15: 59,341,155	L892P	possibly damaging	Het
Zfp395	A	G	14: 65,388,885	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,492,216	L302P	probably damaging	Het

Other mutations in Wnk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Wnk4	APN	11	101268748	missense	possibly damaging	0.47
IGL00535:Wnk4	APN	11	101264349	missense	probably damaging	1.00
IGL01401:Wnk4	APN	11	101276683	splice site	probably benign
IGL01931:Wnk4	APN	11	101268484	missense	possibly damaging	0.94
IGL01977:Wnk4	APN	11	101265414	missense	probably damaging	1.00
IGL02165:Wnk4	APN	11	101275291	unclassified	probably benign
IGL02197:Wnk4	APN	11	101263957	missense	probably damaging	1.00
IGL02457:Wnk4	APN	11	101269563	splice site	probably benign
IGL02963:Wnk4	APN	11	101276213	unclassified	probably benign
ashamed	UTSW	11	101265431	missense	probably damaging	1.00
blushing	UTSW	11	101265377	missense	probably damaging	0.96
Caught_dead	UTSW	11	101264330	missense	probably damaging	1.00
lowered	UTSW	11	101268492	critical splice donor site	probably null
mortification	UTSW	11	101263894	makesense	probably null
shame	UTSW	11	101262856	missense	probably damaging	1.00
R0066:Wnk4	UTSW	11	101265435	missense	probably damaging	1.00
R0317:Wnk4	UTSW	11	101268804	missense	probably benign	0.01
R0628:Wnk4	UTSW	11	101275023	missense	probably benign	0.10
R0630:Wnk4	UTSW	11	101265386	missense	probably damaging	1.00
R0710:Wnk4	UTSW	11	101274106	missense	probably benign	0.22
R1290:Wnk4	UTSW	11	101276340	unclassified	probably benign
R1482:Wnk4	UTSW	11	101269636	missense	probably damaging	0.99
R1775:Wnk4	UTSW	11	101276340	unclassified	probably benign
R2229:Wnk4	UTSW	11	101275641	unclassified	probably benign
R2258:Wnk4	UTSW	11	101275035	missense	probably damaging	0.98
R2323:Wnk4	UTSW	11	101268481	missense	probably damaging	0.99
R3081:Wnk4	UTSW	11	101276891	splice site	probably benign
R3763:Wnk4	UTSW	11	101269288	missense	probably benign	0.00
R4196:Wnk4	UTSW	11	101269631	missense	probably damaging	1.00
R4447:Wnk4	UTSW	11	101268451	missense	possibly damaging	0.65
R4614:Wnk4	UTSW	11	101274111	missense	probably benign	0.00
R4751:Wnk4	UTSW	11	101276362	unclassified	probably benign
R4948:Wnk4	UTSW	11	101268281	missense	probably damaging	1.00
R5067:Wnk4	UTSW	11	101262856	missense	probably damaging	1.00
R5073:Wnk4	UTSW	11	101261188	missense	probably damaging	1.00
R5107:Wnk4	UTSW	11	101275538	unclassified	probably benign
R5181:Wnk4	UTSW	11	101265377	missense	probably damaging	0.96
R5205:Wnk4	UTSW	11	101265138	missense	possibly damaging	0.89
R5252:Wnk4	UTSW	11	101268748	missense	possibly damaging	0.47
R5273:Wnk4	UTSW	11	101263869	missense	probably damaging	1.00
R5293:Wnk4	UTSW	11	101275197	unclassified	probably benign
R5609:Wnk4	UTSW	11	101275636	unclassified	probably benign
R5915:Wnk4	UTSW	11	101263894	makesense	probably null
R5931:Wnk4	UTSW	11	101261221	missense	probably damaging	0.99
R6126:Wnk4	UTSW	11	101276348	unclassified	probably benign
R6164:Wnk4	UTSW	11	101275068	missense	possibly damaging	0.56
R6191:Wnk4	UTSW	11	101264330	missense	probably damaging	1.00
R6267:Wnk4	UTSW	11	101273998	missense	probably damaging	1.00
R6274:Wnk4	UTSW	11	101265431	missense	probably damaging	1.00
R6296:Wnk4	UTSW	11	101273998	missense	probably damaging	1.00
R7132:Wnk4	UTSW	11	101261200	missense	probably benign	0.22
R7251:Wnk4	UTSW	11	101265153	missense	possibly damaging	0.70
R7352:Wnk4	UTSW	11	101264418	missense	probably damaging	1.00
R7404:Wnk4	UTSW	11	101268492	critical splice donor site	probably null
R7624:Wnk4	UTSW	11	101264354	nonsense	probably null
R7634:Wnk4	UTSW	11	101262895	missense	probably damaging	1.00
R7780:Wnk4	UTSW	11	101269577	missense	probably damaging	0.96
R8006:Wnk4	UTSW	11	101268356	missense	probably benign	0.00
R8046:Wnk4	UTSW	11	101274092	missense	probably benign	0.20
R8143:Wnk4	UTSW	11	101262799	missense	probably damaging	1.00
R8458:Wnk4	UTSW	11	101275321	nonsense	probably null
R8735:Wnk4	UTSW	11	101276266	missense	unknown
R9025:Wnk4	UTSW	11	101262815	nonsense	probably null
R9206:Wnk4	UTSW	11	101274056	missense	probably damaging	1.00
R9295:Wnk4	UTSW	11	101269252	missense	probably damaging	0.98
R9610:Wnk4	UTSW	11	101268424	nonsense	probably null
R9611:Wnk4	UTSW	11	101268424	nonsense	probably null
R9674:Wnk4	UTSW	11	101276048	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAATAGATATCCCCGCCCTG -3'
(R):5'- ACTCTTGCCCAAAGCCTGTG -3'

Sequencing Primer
(F):5'- GCCCTGACCATGGTTACAC -3'
(R):5'- CCTAGATCAATAGCTCTGCTGGAG -3'

Posted On

2014-08-25