Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Wnk4'

570675

Institutional Source

Beutler Lab

Gene Symbol

Wnk4

Ensembl Gene

ENSMUSG00000035112

Gene Name

WNK lysine deficient protein kinase 4

Synonyms

2010002J11Rik, Prkwnk4

MMRRC Submission

045438-MU

Accession Numbers

Essential gene?

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

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101151393-101168235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101155244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 385 (V385A)

Ref Sequence

ENSEMBL: ENSMUSP00000099397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042477] [ENSMUST00000100414] [ENSMUST00000103108] [ENSMUST00000128260] [ENSMUST00000139487] [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: V385A

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

SMART Domains

Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: V385A

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: ENSMUST00000128260

SMART Domains

Protein: ENSMUSP00000127718
Gene: ENSMUSG00000001240

Domain	Start	End	E-Value	Type
signal peptide	1	44	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 damaging
Transcript: ENSMUST00000147741
AA Change: V385A

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

SMART Domains

Protein: ENSMUSP00000131298
Gene: ENSMUSG00000035112
AA Change: V385A

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: 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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,508,028 (GRCm39)	W1124*	probably null	Het
Acap3	G	A	4: 155,990,168 (GRCm39)	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796 (GRCm39)	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,429,998 (GRCm39)	L860P	probably damaging	Het
Arap3	G	A	18: 38,106,331 (GRCm39)	T1504I	probably benign	Het
Atad5	T	C	11: 79,994,169 (GRCm39)		probably null	Het
Atp8a2	A	G	14: 60,028,653 (GRCm39)	V938A	probably benign	Het
AW551984	T	C	9: 39,504,221 (GRCm39)	M582V	probably benign	Het
Axdnd1	C	T	1: 156,210,047 (GRCm39)	V408I	possibly damaging	Het
Babam2	T	A	5: 32,164,594 (GRCm39)	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,261,436 (GRCm39)	M20V	probably benign	Het
Bex6	A	G	16: 32,005,034 (GRCm39)		probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Cad	T	A	5: 31,215,422 (GRCm39)	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,736,260 (GRCm39)	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,491,124 (GRCm39)	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,265,745 (GRCm39)	F1396I	probably damaging	Het
Cep170	A	T	1: 176,597,423 (GRCm39)	D373E	probably benign	Het
Chrna4	A	T	2: 180,679,267 (GRCm39)	I60N	probably damaging	Het
Cntn2	T	C	1: 132,450,137 (GRCm39)	T586A	probably benign	Het
Csmd2	G	T	4: 128,451,429 (GRCm39)	V3396F		Het
Cyp3a44	T	A	5: 145,740,498 (GRCm39)	L47F	probably benign	Het
D7Ertd443e	A	T	7: 133,951,123 (GRCm39)	H183Q	probably benign	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dgat1	G	T	15: 76,387,024 (GRCm39)	C396*	probably null	Het
Dmpk	A	G	7: 18,819,997 (GRCm39)	S83G	probably damaging	Het
Dsc2	T	G	18: 20,168,392 (GRCm39)	D689A	probably benign	Het
Eppk1	A	T	15: 75,990,618 (GRCm39)	W2088R	probably benign	Het
Exph5	A	C	9: 53,287,022 (GRCm39)	I1368L	probably benign	Het
Fadd	T	C	7: 144,134,396 (GRCm39)	K163R	probably benign	Het
Fam149a	T	A	8: 45,794,034 (GRCm39)	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,125,448 (GRCm39)	M449K	probably benign	Het
Gad1	T	C	2: 70,425,094 (GRCm39)	F463L	probably benign	Het
Gad2	T	A	2: 22,513,835 (GRCm39)	F91I	probably benign	Het
Gcc2	T	C	10: 58,116,520 (GRCm39)		probably null	Het
Gjd3	A	C	11: 102,691,278 (GRCm39)	C242G	probably damaging	Het
Gkn1	T	C	6: 87,325,100 (GRCm39)	E103G	possibly damaging	Het
Gm867	T	C	10: 75,775,670 (GRCm39)	T39A	probably benign	Het
Gpr108	A	G	17: 57,543,944 (GRCm39)	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,219,289 (GRCm39)	V508G	probably damaging	Het
Grm1	A	T	10: 10,595,237 (GRCm39)	I797N	probably damaging	Het
Ice1	G	A	13: 70,754,221 (GRCm39)	Q622*	probably null	Het
Kcnb2	T	A	1: 15,780,835 (GRCm39)	V569E	probably benign	Het
Ksr2	T	G	5: 117,827,706 (GRCm39)	I495S	probably benign	Het
Litaf	A	T	16: 10,781,217 (GRCm39)	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,110 (GRCm39)	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,302,741 (GRCm39)	S2996Y	probably benign	Het
Ltf	T	C	9: 110,857,518 (GRCm39)	S436P	probably benign	Het
Map4k4	T	A	1: 40,001,387 (GRCm39)	V58D	unknown	Het
Mapkapk3	C	A	9: 107,134,269 (GRCm39)	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,335,674 (GRCm39)	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,224,737 (GRCm39)	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,817,063 (GRCm39)	M248V	probably benign	Het
Olig2	A	G	16: 91,023,577 (GRCm39)	D97G	probably benign	Het
Or4a2	C	A	2: 89,248,311 (GRCm39)	G149W	probably damaging	Het
Or4a39	T	C	2: 89,236,806 (GRCm39)	M206V	probably benign	Het
Or4p8	T	A	2: 88,727,062 (GRCm39)	N293I	probably damaging	Het
Or5b95	A	G	19: 12,658,115 (GRCm39)	I214M	possibly damaging	Het
Or5g23	T	C	2: 85,439,128 (GRCm39)	N42S	probably damaging	Het
Or6f2	A	T	7: 139,756,438 (GRCm39)	Y135F	probably damaging	Het
Pcdha11	T	A	18: 37,139,898 (GRCm39)	V509E	probably damaging	Het
Pglyrp3	G	A	3: 91,921,947 (GRCm39)	W5*	probably null	Het
Phf14	A	T	6: 11,961,637 (GRCm39)	N425Y	probably damaging	Het
Phf3	G	T	1: 30,843,407 (GRCm39)	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Pnma2	A	G	14: 67,153,870 (GRCm39)	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,008,091 (GRCm39)	T782I	probably damaging	Het
Pramel52-ps	A	T	5: 94,531,743 (GRCm39)	N209I	probably damaging	Het
Prickle2	T	G	6: 92,387,871 (GRCm39)	E566D	probably benign	Het
Pvr	A	G	7: 19,644,541 (GRCm39)	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,997,842 (GRCm39)		probably benign	Het
Rapgef4	T	A	2: 72,010,435 (GRCm39)	I331N	probably damaging	Het
Reg3g	C	T	6: 78,443,842 (GRCm39)	W122*	probably null	Het
Rigi	T	A	4: 40,239,668 (GRCm39)	Q10L	probably benign	Het
Rlbp1	A	T	7: 79,031,428 (GRCm39)	I100N	probably damaging	Het
Rnf213	T	A	11: 119,334,405 (GRCm39)	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Rtl6	G	T	15: 84,441,181 (GRCm39)	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,785,053 (GRCm39)	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,356,045 (GRCm39)	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,925,214 (GRCm39)	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,688,865 (GRCm39)	T392A	probably damaging	Het
Spaca7	T	A	8: 12,635,742 (GRCm39)	I86K	probably benign	Het
Syt10	G	T	15: 89,698,659 (GRCm39)	D228E	probably benign	Het
Tbx3	T	A	5: 119,815,625 (GRCm39)	N308K	probably benign	Het
Telo2	A	G	17: 25,321,043 (GRCm39)	V724A	probably damaging	Het
Tfip11	T	C	5: 112,481,134 (GRCm39)	V370A	probably benign	Het
Thbs3	A	G	3: 89,132,587 (GRCm39)	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,644,401 (GRCm39)	I148V	not run	Het
Trbv14	T	A	6: 41,112,429 (GRCm39)	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,962 (GRCm39)	V2973A	probably damaging	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Ubr2	G	A	17: 47,241,352 (GRCm39)	T1734I	probably benign	Het
Ush2a	G	T	1: 188,198,321 (GRCm39)	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,841,525 (GRCm39)	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,747,728 (GRCm39)	V7A	possibly damaging	Het
Wnt2b	C	T	3: 104,854,493 (GRCm39)	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,253,874 (GRCm39)	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,275,916 (GRCm39)	M87T	probably benign	Het

Other mutations in Wnk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Wnk4	APN	11	101,159,574 (GRCm39)	missense	possibly damaging	0.47
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
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

Predicted Primers

PCR Primer
(F):5'- AGAAGCCTGATTCTTTCTGTGG -3'
(R):5'- CAGGGCATCTTTCTGTCTGG -3'

Sequencing Primer
(F):5'- CCTGATTCTTTCTGTGGGTCCAATAG -3'
(R):5'- GCATCTTTCTGTCTGGCCTGG -3'

Posted On

2019-09-13