Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00231:Wnk4'

2207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wnk4

Ensembl Gene

ENSMUSG00000035112

Gene Name

WNK lysine deficient protein kinase 4

Synonyms

2010002J11Rik, Prkwnk4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

IGL00231

Quality Score

Status

Chromosome

Chromosomal Location

101151393-101168235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101159574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 593 (D593G)

Ref Sequence

ENSEMBL: ENSMUSP00000099397 (fasta)

Gene Model

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

AlphaFold

Q80UE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103108
AA Change: D593G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: D593G

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	G	4: 86,303,877 (GRCm39)	T1346A	probably benign	Het
Ccdc102a	T	C	8: 95,638,266 (GRCm39)		probably null	Het
Cgrrf1	T	C	14: 47,069,779 (GRCm39)	F16S	probably damaging	Het
Clybl	T	C	14: 122,616,610 (GRCm39)		probably benign	Het
Cubn	T	C	2: 13,386,660 (GRCm39)	E1535G	possibly damaging	Het
Dmrtc1b	C	A	X: 101,757,233 (GRCm39)	P226H	probably benign	Het
Dnah17	G	A	11: 117,979,040 (GRCm39)	A1784V	possibly damaging	Het
Dnajc24	A	G	2: 105,832,348 (GRCm39)	Y12H	probably damaging	Het
Drd1	T	C	13: 54,207,486 (GRCm39)	T236A	probably benign	Het
Ep400	A	T	5: 110,835,707 (GRCm39)	V1934D	unknown	Het
Flt1	A	G	5: 147,517,110 (GRCm39)		probably null	Het
Fut8	A	G	12: 77,495,262 (GRCm39)	K284R	probably benign	Het
Hcn1	A	G	13: 118,112,529 (GRCm39)	E831G	probably damaging	Het
Inpp5j	A	T	11: 3,450,009 (GRCm39)		probably benign	Het
Insig2	A	G	1: 121,233,676 (GRCm39)	Y213H	probably damaging	Het
Kcnh4	G	A	11: 100,647,821 (GRCm39)		probably benign	Het
Kifc2	T	A	15: 76,551,662 (GRCm39)		probably benign	Het
Krt75	T	C	15: 101,481,081 (GRCm39)	E231G	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mfsd4b2	T	A	10: 39,801,057 (GRCm39)		probably benign	Het
Micall2	T	A	5: 139,703,311 (GRCm39)		probably null	Het
Or10ag2	A	G	2: 87,248,910 (GRCm39)	T173A	possibly damaging	Het
Or8s5	C	T	15: 98,238,054 (GRCm39)	S256N	possibly damaging	Het
Osbp2	C	T	11: 3,676,561 (GRCm39)	D287N	possibly damaging	Het
Plin1	A	G	7: 79,376,408 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,907,409 (GRCm39)	N962S	probably benign	Het
Psg25	C	T	7: 18,260,106 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,652,544 (GRCm39)	D601E	probably benign	Het
S100a7l2	A	G	3: 90,995,665 (GRCm39)	M79T	probably benign	Het
Sbno2	C	A	10: 79,900,340 (GRCm39)		probably benign	Het
Sntg2	T	C	12: 30,326,720 (GRCm39)	D147G	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Stam2	T	A	2: 52,596,418 (GRCm39)	I307F	possibly damaging	Het
Tbx21	T	G	11: 96,989,749 (GRCm39)	E481A	probably damaging	Het
Tsc2	G	A	17: 24,827,081 (GRCm39)	T876I	probably damaging	Het
Wdfy4	T	C	14: 32,824,496 (GRCm39)	I1308V	possibly damaging	Het
Wdr37	C	T	13: 8,870,541 (GRCm39)	V143I	probably damaging	Het
Wdr43	T	G	17: 71,959,809 (GRCm39)	Y550D	probably damaging	Het

Other mutations in Wnk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Wnk4	APN	11	101,155,175 (GRCm39)	missense	probably damaging	1.00
IGL01401:Wnk4	APN	11	101,167,509 (GRCm39)	splice site	probably benign
IGL01931:Wnk4	APN	11	101,159,310 (GRCm39)	missense	possibly damaging	0.94
IGL01977:Wnk4	APN	11	101,156,240 (GRCm39)	missense	probably damaging	1.00
IGL02165:Wnk4	APN	11	101,166,117 (GRCm39)	unclassified	probably benign
IGL02197:Wnk4	APN	11	101,154,783 (GRCm39)	missense	probably damaging	1.00
IGL02457:Wnk4	APN	11	101,160,389 (GRCm39)	splice site	probably benign
IGL02963:Wnk4	APN	11	101,167,039 (GRCm39)	unclassified	probably benign
ashamed	UTSW	11	101,156,257 (GRCm39)	missense	probably damaging	1.00
blushing	UTSW	11	101,156,203 (GRCm39)	missense	probably damaging	0.96
Caught_dead	UTSW	11	101,155,156 (GRCm39)	missense	probably damaging	1.00
lowered	UTSW	11	101,159,318 (GRCm39)	critical splice donor site	probably null
mortification	UTSW	11	101,154,720 (GRCm39)	makesense	probably null
shame	UTSW	11	101,153,682 (GRCm39)	missense	probably damaging	1.00
R0066:Wnk4	UTSW	11	101,156,261 (GRCm39)	missense	probably damaging	1.00
R0317:Wnk4	UTSW	11	101,159,630 (GRCm39)	missense	probably benign	0.01
R0628:Wnk4	UTSW	11	101,165,849 (GRCm39)	missense	probably benign	0.10
R0630:Wnk4	UTSW	11	101,156,212 (GRCm39)	missense	probably damaging	1.00
R0710:Wnk4	UTSW	11	101,164,932 (GRCm39)	missense	probably benign	0.22
R1290:Wnk4	UTSW	11	101,167,166 (GRCm39)	unclassified	probably benign
R1482:Wnk4	UTSW	11	101,160,462 (GRCm39)	missense	probably damaging	0.99
R1775:Wnk4	UTSW	11	101,167,166 (GRCm39)	unclassified	probably benign
R2005:Wnk4	UTSW	11	101,154,716 (GRCm39)	missense	probably damaging	1.00
R2229:Wnk4	UTSW	11	101,166,467 (GRCm39)	unclassified	probably benign
R2258:Wnk4	UTSW	11	101,165,861 (GRCm39)	missense	probably damaging	0.98
R2323:Wnk4	UTSW	11	101,159,307 (GRCm39)	missense	probably damaging	0.99
R3081:Wnk4	UTSW	11	101,167,717 (GRCm39)	splice site	probably benign
R3763:Wnk4	UTSW	11	101,160,114 (GRCm39)	missense	probably benign	0.00
R4196:Wnk4	UTSW	11	101,160,457 (GRCm39)	missense	probably damaging	1.00
R4447:Wnk4	UTSW	11	101,159,277 (GRCm39)	missense	possibly damaging	0.65
R4614:Wnk4	UTSW	11	101,164,937 (GRCm39)	missense	probably benign	0.00
R4751:Wnk4	UTSW	11	101,167,188 (GRCm39)	unclassified	probably benign
R4948:Wnk4	UTSW	11	101,159,107 (GRCm39)	missense	probably damaging	1.00
R5067:Wnk4	UTSW	11	101,153,682 (GRCm39)	missense	probably damaging	1.00
R5073:Wnk4	UTSW	11	101,152,014 (GRCm39)	missense	probably damaging	1.00
R5107:Wnk4	UTSW	11	101,166,364 (GRCm39)	unclassified	probably benign
R5181:Wnk4	UTSW	11	101,156,203 (GRCm39)	missense	probably damaging	0.96
R5205:Wnk4	UTSW	11	101,155,964 (GRCm39)	missense	possibly damaging	0.89
R5252:Wnk4	UTSW	11	101,159,574 (GRCm39)	missense	possibly damaging	0.47
R5273:Wnk4	UTSW	11	101,154,695 (GRCm39)	missense	probably damaging	1.00
R5293:Wnk4	UTSW	11	101,166,023 (GRCm39)	unclassified	probably benign
R5609:Wnk4	UTSW	11	101,166,462 (GRCm39)	unclassified	probably benign
R5915:Wnk4	UTSW	11	101,154,720 (GRCm39)	makesense	probably null
R5931:Wnk4	UTSW	11	101,152,047 (GRCm39)	missense	probably damaging	0.99
R6126:Wnk4	UTSW	11	101,167,174 (GRCm39)	unclassified	probably benign
R6164:Wnk4	UTSW	11	101,165,894 (GRCm39)	missense	possibly damaging	0.56
R6191:Wnk4	UTSW	11	101,155,156 (GRCm39)	missense	probably damaging	1.00
R6267:Wnk4	UTSW	11	101,164,824 (GRCm39)	missense	probably damaging	1.00
R6274:Wnk4	UTSW	11	101,156,257 (GRCm39)	missense	probably damaging	1.00
R6296:Wnk4	UTSW	11	101,164,824 (GRCm39)	missense	probably damaging	1.00
R7132:Wnk4	UTSW	11	101,152,026 (GRCm39)	missense	probably benign	0.22
R7251:Wnk4	UTSW	11	101,155,979 (GRCm39)	missense	possibly damaging	0.70
R7352:Wnk4	UTSW	11	101,155,244 (GRCm39)	missense	probably damaging	1.00
R7404:Wnk4	UTSW	11	101,159,318 (GRCm39)	critical splice donor site	probably null
R7624:Wnk4	UTSW	11	101,155,180 (GRCm39)	nonsense	probably null
R7634:Wnk4	UTSW	11	101,153,721 (GRCm39)	missense	probably damaging	1.00
R7780:Wnk4	UTSW	11	101,160,403 (GRCm39)	missense	probably damaging	0.96
R8006:Wnk4	UTSW	11	101,159,182 (GRCm39)	missense	probably benign	0.00
R8046:Wnk4	UTSW	11	101,164,918 (GRCm39)	missense	probably benign	0.20
R8143:Wnk4	UTSW	11	101,153,625 (GRCm39)	missense	probably damaging	1.00
R8458:Wnk4	UTSW	11	101,166,147 (GRCm39)	nonsense	probably null
R8735:Wnk4	UTSW	11	101,167,092 (GRCm39)	missense	unknown
R9025:Wnk4	UTSW	11	101,153,641 (GRCm39)	nonsense	probably null
R9206:Wnk4	UTSW	11	101,164,882 (GRCm39)	missense	probably damaging	1.00
R9295:Wnk4	UTSW	11	101,160,078 (GRCm39)	missense	probably damaging	0.98
R9610:Wnk4	UTSW	11	101,159,250 (GRCm39)	nonsense	probably null
R9611:Wnk4	UTSW	11	101,159,250 (GRCm39)	nonsense	probably null
R9674:Wnk4	UTSW	11	101,166,874 (GRCm39)	missense	unknown

Posted On

2011-12-09