Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Wnk4'

487410

Institutional Source

Beutler Lab

Gene Symbol

Wnk4

Ensembl Gene

ENSMUSG00000035112

Gene Name

WNK lysine deficient protein kinase 4

Synonyms

2010002J11Rik, Prkwnk4

MMRRC Submission

044273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101260567-101277409 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 101276348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017332] [ENSMUST00000103107] [ENSMUST00000103108] [ENSMUST00000139487] [ENSMUST00000147741] [ENSMUST00000168089] [ENSMUST00000170056]

AlphaFold

Q80UE6

Predicted Effect

probably benign
Transcript: ENSMUST00000017332

SMART Domains

Protein: ENSMUSP00000017332
Gene: ENSMUSG00000017188

Domain	Start	End	E-Value	Type
Pfam:Coiled-coil_56	1	106	1.8e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103107

SMART Domains

Protein: ENSMUSP00000099396
Gene: ENSMUSG00000078653

Domain	Start	End	E-Value	Type
Pfam:Cyclin_N	111	180	1.8e-6	PFAM
low complexity region	212	221	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000103108
AA Change: D1110G

SMART Domains

Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: D1110G

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

noncoding transcript
Transcript: ENSMUST00000128735

Predicted Effect

probably benign
Transcript: ENSMUST00000139487

SMART Domains

Protein: ENSMUSP00000129666
Gene: ENSMUSG00000035112

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: ENSMUST00000147741

SMART Domains

Protein: ENSMUSP00000131298
Gene: ENSMUSG00000035112

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

probably benign
Transcript: ENSMUST00000168089

SMART Domains

Protein: ENSMUSP00000130367
Gene: ENSMUSG00000017188

Domain	Start	End	E-Value	Type
Pfam:Coiled-coil_56	1	74	2.7e-35	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170372

Meta Mutation Damage Score

0.1004

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dst	T	A	1: 34,228,183	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313	R72H	unknown	Het
Gm906	G	T	13: 50,246,290	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011		probably null	Het
Mnx1	G	T	5: 29,478,112	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887		probably null	Het
Olfr530	T	G	7: 140,373,253	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457		probably benign	Het
Panx1	T	A	9: 15,007,790	I258F	probably benign	Het
Pask	T	C	1: 93,314,359	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr1	A	C	7: 29,076,239	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Tex15	A	G	8: 33,573,563	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102	H474L	probably benign	Het
Zfp292	T	C	4: 34,808,497	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	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
R2005:Wnk4	UTSW	11	101263890	missense	probably damaging	1.00
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
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'- TCAGACACAGAGGACAGTGC -3'
(R):5'- CAAGCCGGCTGTATAAGTCC -3'

Sequencing Primer
(F):5'- TCTGGCAGAGAGTGACCGTG -3'
(R):5'- CGGCTGTATAAGTCCTCGATTTC -3'

Posted On

2017-10-10