Incidental Mutation 'R7780:Wnk4'
ID |
599179 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wnk4
|
Ensembl Gene |
ENSMUSG00000035112 |
Gene Name |
WNK lysine deficient protein kinase 4 |
Synonyms |
2010002J11Rik, Prkwnk4 |
MMRRC Submission |
045836-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.238)
|
Stock # |
R7780 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101151393-101168235 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101160403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 679
(D679G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103108]
[ENSMUST00000139487]
[ENSMUST00000147741]
[ENSMUST00000170056]
|
AlphaFold |
Q80UE6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103108
AA Change: D679G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099397 Gene: ENSMUSG00000035112 AA Change: D679G
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: 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: 99.2%
|
Validation Efficiency |
100% (77/77) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
C |
T |
8: 25,294,432 (GRCm39) |
R389K |
possibly damaging |
Het |
Ahnak2 |
C |
T |
12: 112,746,716 (GRCm39) |
V1205M |
|
Het |
Ccr3 |
A |
G |
9: 123,828,989 (GRCm39) |
Y108C |
probably benign |
Het |
Cers5 |
T |
G |
15: 99,637,589 (GRCm39) |
H220P |
probably damaging |
Het |
Cfap61 |
A |
T |
2: 145,995,692 (GRCm39) |
N1086Y |
possibly damaging |
Het |
Cip2a |
T |
A |
16: 48,822,023 (GRCm39) |
L217* |
probably null |
Het |
Clstn3 |
T |
C |
6: 124,439,161 (GRCm39) |
E32G |
probably damaging |
Het |
Cox20 |
T |
C |
1: 178,149,566 (GRCm39) |
C72R |
probably benign |
Het |
Csf1 |
A |
T |
3: 107,657,709 (GRCm39) |
N154K |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,118,256 (GRCm39) |
K112N |
probably benign |
Het |
Drosha |
A |
G |
15: 12,848,172 (GRCm39) |
D488G |
probably benign |
Het |
Edem1 |
A |
G |
6: 108,818,589 (GRCm39) |
K199R |
probably benign |
Het |
Esyt2 |
T |
C |
12: 116,305,718 (GRCm39) |
I316T |
probably benign |
Het |
Evpl |
C |
T |
11: 116,125,000 (GRCm39) |
R154H |
not run |
Het |
Fbn1 |
A |
G |
2: 125,143,678 (GRCm39) |
L2817P |
probably benign |
Het |
Fbxo42 |
T |
A |
4: 140,921,131 (GRCm39) |
|
probably null |
Het |
Fbxo43 |
T |
C |
15: 36,162,358 (GRCm39) |
D283G |
probably damaging |
Het |
Fdxr |
A |
T |
11: 115,167,656 (GRCm39) |
S20T |
probably benign |
Het |
Fkbp10 |
T |
C |
11: 100,312,048 (GRCm39) |
Y203H |
probably damaging |
Het |
Galntl6 |
C |
T |
8: 58,880,733 (GRCm39) |
|
probably null |
Het |
Gask1b |
G |
A |
3: 79,848,711 (GRCm39) |
G486S |
probably damaging |
Het |
Gm26657 |
C |
A |
4: 56,741,056 (GRCm39) |
Y80* |
probably null |
Het |
Gm973 |
T |
A |
1: 59,597,289 (GRCm39) |
W440R |
probably damaging |
Het |
Helz |
T |
A |
11: 107,528,689 (GRCm39) |
F903Y |
probably damaging |
Het |
Iqcf4 |
T |
A |
9: 106,445,860 (GRCm39) |
I96F |
possibly damaging |
Het |
Kcnq5 |
T |
A |
1: 22,031,555 (GRCm39) |
Q84L |
probably benign |
Het |
Krit1 |
G |
A |
5: 3,862,772 (GRCm39) |
G254S |
probably damaging |
Het |
Krtap6-2 |
A |
T |
16: 89,216,510 (GRCm39) |
Y152* |
probably null |
Het |
Loricrin |
A |
T |
3: 91,988,460 (GRCm39) |
Y275* |
probably null |
Het |
Map4 |
T |
C |
9: 109,863,720 (GRCm39) |
I315T |
probably benign |
Het |
Mcpt1 |
T |
A |
14: 56,256,609 (GRCm39) |
|
probably null |
Het |
Mdh1b |
C |
A |
1: 63,759,133 (GRCm39) |
S153I |
possibly damaging |
Het |
Mfsd12 |
C |
A |
10: 81,193,718 (GRCm39) |
A96E |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,315,697 (GRCm39) |
E55G |
probably benign |
Het |
Mterf4 |
T |
C |
1: 93,232,689 (GRCm39) |
E54G |
probably benign |
Het |
Mucl3 |
A |
G |
17: 35,947,874 (GRCm39) |
S452P |
possibly damaging |
Het |
Nuggc |
T |
A |
14: 65,882,490 (GRCm39) |
I745N |
probably damaging |
Het |
Or6k6 |
T |
C |
1: 173,945,115 (GRCm39) |
I156V |
probably benign |
Het |
Or7g18 |
A |
G |
9: 18,786,910 (GRCm39) |
T93A |
possibly damaging |
Het |
Parg |
A |
T |
14: 31,930,758 (GRCm39) |
N126I |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,123,987 (GRCm39) |
I728V |
possibly damaging |
Het |
Pcdha1 |
C |
G |
18: 37,065,511 (GRCm39) |
P725R |
probably benign |
Het |
Pcdha11 |
T |
A |
18: 37,145,849 (GRCm39) |
L647M |
probably damaging |
Het |
Phb2 |
T |
C |
6: 124,692,995 (GRCm39) |
|
probably null |
Het |
Plb1 |
A |
G |
5: 32,483,610 (GRCm39) |
|
probably null |
Het |
Pmch |
T |
A |
10: 87,927,113 (GRCm39) |
F39I |
probably benign |
Het |
Psmd7 |
A |
T |
8: 108,307,920 (GRCm39) |
S188T |
possibly damaging |
Het |
Pycr2 |
T |
A |
1: 180,733,913 (GRCm39) |
D168E |
probably damaging |
Het |
Rab43 |
A |
G |
6: 87,771,692 (GRCm39) |
Y96H |
probably damaging |
Het |
Ralgapa2 |
C |
T |
2: 146,184,334 (GRCm39) |
G1511S |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,319,138 (GRCm39) |
C852* |
probably null |
Het |
Rexo2 |
T |
C |
9: 48,380,145 (GRCm39) |
N229S |
probably damaging |
Het |
Sema4f |
A |
G |
6: 82,890,941 (GRCm39) |
V622A |
possibly damaging |
Het |
Serpina10 |
T |
C |
12: 103,594,806 (GRCm39) |
S138G |
probably benign |
Het |
Sptbn4 |
T |
A |
7: 27,061,059 (GRCm39) |
T2415S |
possibly damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,792,040 (GRCm39) |
N257D |
probably benign |
Het |
Tbl3 |
A |
G |
17: 24,921,205 (GRCm39) |
F529L |
probably damaging |
Het |
Them6 |
A |
T |
15: 74,593,427 (GRCm39) |
N95I |
probably benign |
Het |
Thrb |
T |
C |
14: 18,008,608 (GRCm38) |
S156P |
possibly damaging |
Het |
Tmem186 |
G |
A |
16: 8,453,731 (GRCm39) |
R177C |
probably benign |
Het |
Ttn |
T |
A |
2: 76,660,937 (GRCm39) |
|
probably null |
Het |
Unc13a |
T |
A |
8: 72,110,979 (GRCm39) |
I411F |
probably benign |
Het |
Uqcc1 |
T |
C |
2: 155,752,073 (GRCm39) |
|
probably null |
Het |
Vmn1r56 |
T |
C |
7: 5,199,516 (GRCm39) |
T34A |
possibly damaging |
Het |
Vps39 |
A |
T |
2: 120,155,680 (GRCm39) |
Y542* |
probably null |
Het |
Wdr64 |
T |
C |
1: 175,556,542 (GRCm39) |
L263P |
probably damaging |
Het |
Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
Wfdc16 |
A |
G |
2: 164,477,785 (GRCm39) |
M88T |
probably benign |
Het |
Ykt6 |
T |
C |
11: 5,912,751 (GRCm39) |
I151T |
probably benign |
Het |
Zbtb46 |
A |
G |
2: 181,033,225 (GRCm39) |
C479R |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,967,115 (GRCm39) |
I559T |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,678,283 (GRCm39) |
N3111S |
possibly damaging |
Het |
Zfp619 |
T |
C |
7: 39,184,432 (GRCm39) |
V154A |
possibly damaging |
Het |
Zfp629 |
A |
T |
7: 127,211,601 (GRCm39) |
D69E |
probably benign |
Het |
Zfp882 |
T |
A |
8: 72,668,073 (GRCm39) |
I300N |
possibly damaging |
Het |
Zfp934 |
T |
C |
13: 62,666,358 (GRCm39) |
H106R |
possibly damaging |
Het |
Zfta |
T |
C |
19: 7,399,737 (GRCm39) |
S495P |
probably damaging |
Het |
Zfyve9 |
G |
A |
4: 108,576,298 (GRCm39) |
T261I |
possibly damaging |
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 |
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 |
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'- TGTCCTGTGTGACTGACATC -3'
(R):5'- CAGTGTTTATACGCCCTTGCTG -3'
Sequencing Primer
(F):5'- CATCTAGTCTAGTTTCAATGCCAGAC -3'
(R):5'- GGTCAGTGTATAAATGTCAGCACC -3'
|
Posted On |
2019-11-26 |