Mutagenetix > Incidental Mutations

Incidental Mutation 'R0317:Wnk4'

25480

Institutional Source

Beutler Lab

Gene Symbol

Wnk4

Ensembl Gene

ENSMUSG00000035112

Gene Name

WNK lysine deficient protein kinase 4

Synonyms

2010002J11Rik, Prkwnk4

MMRRC Submission

038527-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R0317 (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 101268804 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 612 (S612P)

Ref Sequence

ENSEMBL: ENSMUSP00000099397 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103108
AA Change: S612P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: S612P

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: 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

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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,293,459	V1774A	probably damaging	Het
Adam34	G	A	8: 43,652,251	P119L	probably benign	Het
Ap3b2	T	C	7: 81,463,681		probably null	Het
Arfip2	G	A	7: 105,637,223	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,423,544	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,172,697		probably null	Het
Cab39	A	G	1: 85,849,160	E322G	probably damaging	Het
Cad	C	A	5: 31,072,321	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,706,901		probably null	Het
Cela2a	A	T	4: 141,821,700		probably null	Het
Ces1e	A	C	8: 93,224,039	I38S	probably benign	Het
Ces1f	A	T	8: 93,263,391	F364I	probably benign	Het
Chgb	A	G	2: 132,793,811	T558A	probably benign	Het
Cnpy4	C	T	5: 138,192,812	Q217*	probably null	Het
Col4a3bp	C	T	13: 96,634,121	R487*	probably null	Het
Crlf1	A	G	8: 70,498,599	T43A	probably benign	Het
Dnah7b	T	A	1: 46,134,656	M707K	probably damaging	Het
Ets2	G	A	16: 95,712,149	S123N	probably damaging	Het
Fam196b	C	A	11: 34,402,826	D289E	possibly damaging	Het
Fry	T	C	5: 150,471,468	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,116	R120H	probably benign	Het
Gbf1	A	G	19: 46,254,020	T96A	probably benign	Het
Ggn	T	A	7: 29,171,090	M1K	probably null	Het
Gm5239	A	G	18: 35,536,916	T112A	probably benign	Het
Kif1bp	A	T	10: 62,578,082		probably null	Het
Lrrc15	A	T	16: 30,273,743	H259Q	probably benign	Het
Lysmd4	A	G	7: 67,226,297	Y236C	probably damaging	Het
Med29	T	C	7: 28,386,859	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,357,799	D68Y	probably damaging	Het
Myh1	T	C	11: 67,217,512	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,551,931		probably null	Het
Olfr948	A	G	9: 39,319,461	I51T	probably benign	Het
Pdhx	A	G	2: 103,028,280	V393A	probably benign	Het
Pgm5	A	G	19: 24,824,399	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,022	I889F	probably benign	Het
Phactr4	T	A	4: 132,386,930	K51I	probably damaging	Het
Pum2	T	A	12: 8,728,754	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,725,553	S24P	probably damaging	Het
Rasef	T	C	4: 73,748,562	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,087,144	D339G	probably benign	Het
Recql5	A	G	11: 115,894,673	S666P	probably benign	Het
Rfc1	A	T	5: 65,296,052		probably null	Het
Scarb1	A	G	5: 125,289,692	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,946,356	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,358,625	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,504,426	Y104D	probably damaging	Het
Suz12	T	A	11: 79,999,078	D13E	probably damaging	Het
Tlr1	G	T	5: 64,925,967	C422*	probably null	Het
Tmco1	T	C	1: 167,325,893	V114A	probably damaging	Het
Trpa1	T	C	1: 14,881,632	T948A	probably benign	Het
Tub	A	T	7: 109,020,927	N93Y	probably damaging	Het
Ufsp2	G	A	8: 45,992,233		probably null	Het
Veph1	T	C	3: 66,171,975	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,620,960	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 64,081,819	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,851,583	S480G	probably benign	Het
Zfp503	T	C	14: 21,986,459	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602	C628Y	possibly 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
Caught_dead	UTSW	11	101264330	missense	probably damaging	1.00
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTCCAGCTCTAGCCATGAACC -3'
(R):5'- CAGAACATTCTGTGTCTCACCCTGC -3'

Sequencing Primer
(F):5'- TGAACCTTCCTTTAGGGACAAAC -3'
(R):5'- TATCCCCAGGAGAAAAGTCACTG -3'

Posted On

2013-04-16