Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Wnk4'

698541

Institutional Source

Beutler Lab

Gene Symbol

Wnk4

Ensembl Gene

ENSMUSG00000035112

Gene Name

WNK lysine deficient protein kinase 4

Synonyms

2010002J11Rik, Prkwnk4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101260567-101277409 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101274056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 737 (I737T)

Ref Sequence

ENSEMBL: ENSMUSP00000099397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017332] [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 damaging
Transcript: ENSMUST00000103108
AA Change: I737T

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

SMART Domains

Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: I737T

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389	V605F	probably benign	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Als2	A	G	1: 59,185,247	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598	T2539N	probably benign	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fat4	G	C	3: 39,009,241	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358		probably null	Het
Klhl31	T	A	9: 77,651,107	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,558,231	L425M	possibly damaging	Het
Nop9	T	A	14: 55,750,135		probably null	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098	Y469*	probably null	Het
Rbm33	A	G	5: 28,352,586	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rcor3	A	T	1: 192,101,595	*448R	probably null	Het
Scn10a	T	C	9: 119,616,761	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787	I1108F	probably damaging	Het
Scrn2	T	C	11: 97,032,136	I135T	probably damaging	Het
Sptan1	A	T	2: 30,030,712	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611	I156F	probably damaging	Het
Zfp329	A	T	7: 12,811,158	D146E	probably benign	Het
Zfp40	A	G	17: 23,175,577	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp804b	T	C	5: 6,772,154	N303S	probably benign	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
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
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'- AAGTCCCTGTGGCACAAGAC -3'
(R):5'- ACAAGTTCGTGGATGAAAGCC -3'

Sequencing Primer
(F):5'- GACACACACTTAGCAATTGGTG -3'
(R):5'- TTCGTGGATGAAAGCCGCAAAC -3'

Posted On

2022-02-07