Incidental Mutation 'R0628:Wnk4'
| ID |
57719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnk4
|
| Ensembl Gene |
ENSMUSG00000035112 |
| Gene Name |
WNK lysine deficient protein kinase 4 |
| Synonyms |
2010002J11Rik, Prkwnk4 |
| MMRRC Submission |
038817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R0628 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101151393-101168235 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101165849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 792
(F792S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017332]
[ENSMUST00000103107]
[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 benign
Transcript: ENSMUST00000103107
|
| SMART Domains |
Protein: ENSMUSP00000099396
Gene: ENSMUSG00000078653
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin_N
|
111 |
180 |
1.8e-6 |
PFAM |
|
low complexity region
|
212 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103108
AA Change: F792S
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: F792S
| 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 |
noncoding transcript
Transcript: ENSMUST00000128735
|
| 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: ENSMUST00000170372
|
| 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 |
|
| Meta Mutation Damage Score |
0.0892 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
98% (58/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
C |
18: 65,440,367 (GRCm39) |
V809G |
possibly damaging |
Het |
| Bank1 |
T |
A |
3: 135,772,151 (GRCm39) |
D493V |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,604,273 (GRCm39) |
|
probably benign |
Het |
| Ccdc17 |
T |
A |
4: 116,455,745 (GRCm39) |
L292H |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,837,498 (GRCm39) |
|
probably benign |
Het |
| Cd34 |
C |
A |
1: 194,641,525 (GRCm39) |
T317K |
probably damaging |
Het |
| Col6a5 |
C |
G |
9: 105,789,649 (GRCm39) |
|
probably null |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Copa |
T |
C |
1: 171,918,592 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,128,867 (GRCm39) |
D56G |
probably damaging |
Het |
| Dlg4 |
C |
T |
11: 69,922,610 (GRCm39) |
T201I |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,536,264 (GRCm39) |
D2593V |
probably benign |
Het |
| Ect2l |
T |
A |
10: 18,018,788 (GRCm39) |
E536V |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,935,479 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
C |
T |
15: 71,320,505 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,825,161 (GRCm39) |
T392A |
possibly damaging |
Het |
| Gart |
C |
T |
16: 91,430,790 (GRCm39) |
R424H |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,842,049 (GRCm39) |
L80P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,163 (GRCm39) |
K2415E |
probably benign |
Het |
| Ica1 |
C |
T |
6: 8,644,256 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
T |
A |
13: 8,990,958 (GRCm39) |
|
probably benign |
Het |
| Iyd |
A |
T |
10: 3,497,127 (GRCm39) |
M161L |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,392,200 (GRCm39) |
L974S |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,947,605 (GRCm39) |
D1619G |
probably damaging |
Het |
| Lypd8 |
C |
T |
11: 58,275,499 (GRCm39) |
T78M |
probably damaging |
Het |
| Marchf10 |
T |
A |
11: 105,280,986 (GRCm39) |
H433L |
probably benign |
Het |
| Mbp |
A |
G |
18: 82,572,742 (GRCm39) |
Y13C |
probably damaging |
Het |
| Mertk |
A |
T |
2: 128,580,233 (GRCm39) |
N229I |
probably damaging |
Het |
| Msrb2 |
T |
A |
2: 19,398,091 (GRCm39) |
D116E |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Otoa |
G |
A |
7: 120,744,873 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,552 (GRCm39) |
T1230A |
unknown |
Het |
| Polrmt |
T |
C |
10: 79,574,979 (GRCm39) |
T851A |
possibly damaging |
Het |
| Prpf6 |
C |
T |
2: 181,277,841 (GRCm39) |
P401L |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,839,635 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,272,064 (GRCm39) |
|
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,996,841 (GRCm39) |
T588A |
probably damaging |
Het |
| Rtel1 |
A |
C |
2: 180,993,674 (GRCm39) |
S782R |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,378,060 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
G |
C |
13: 76,298,848 (GRCm39) |
V1185L |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,588,266 (GRCm39) |
L728* |
probably null |
Het |
| Slc9b2 |
T |
A |
3: 135,029,536 (GRCm39) |
|
probably benign |
Het |
| Snapc3 |
A |
T |
4: 83,368,397 (GRCm39) |
H298L |
probably benign |
Het |
| Tex9 |
A |
T |
9: 72,399,233 (GRCm39) |
M1K |
probably null |
Het |
| Trappc13 |
C |
T |
13: 104,291,424 (GRCm39) |
|
probably benign |
Het |
| Usp3 |
C |
T |
9: 66,425,726 (GRCm39) |
R467H |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,195,597 (GRCm39) |
L576F |
possibly damaging |
Het |
| Zfp1007 |
T |
C |
5: 109,826,442 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
T |
C |
9: 72,269,230 (GRCm39) |
V764A |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,806,622 (GRCm39) |
Q4* |
probably null |
Het |
| Zfp692 |
T |
G |
11: 58,200,449 (GRCm39) |
L206R |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
| Zic4 |
T |
A |
9: 91,266,170 (GRCm39) |
Y264* |
probably null |
Het |
| Zic4 |
T |
A |
9: 91,266,172 (GRCm39) |
M272K |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,635,390 (GRCm39) |
N284K |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCCAATGGTAGGTTCTGTGTCTG -3'
(R):5'- GCTCTCCTGGTCACAAGAAGCAAG -3'
Sequencing Primer
(F):5'- GTGTCTGTGCCTGCTCAC -3'
(R):5'- TGGGCCACAGTCATCACAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation