Incidental Mutation 'R9206:Wnk4'
ID |
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? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R9206 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101151393-101168235 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101164882 bp (GRCm39)
|
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: 45,820,330 (GRCm39) |
D248G |
probably benign |
Het |
Abcc5 |
C |
A |
16: 20,208,139 (GRCm39) |
V605F |
probably benign |
Het |
Als2 |
A |
G |
1: 59,224,406 (GRCm39) |
Y1066H |
probably damaging |
Het |
Apbb1 |
A |
G |
7: 105,208,727 (GRCm39) |
S569P |
probably damaging |
Het |
Apex1 |
T |
G |
14: 51,163,125 (GRCm39) |
D69E |
possibly damaging |
Het |
Atg13 |
A |
T |
2: 91,512,406 (GRCm39) |
F288I |
probably benign |
Het |
Atl3 |
A |
G |
19: 7,487,447 (GRCm39) |
I121V |
probably benign |
Het |
Atoh1 |
A |
G |
6: 64,706,713 (GRCm39) |
E136G |
probably benign |
Het |
Ccr7 |
T |
C |
11: 99,039,895 (GRCm39) |
N9S |
probably benign |
Het |
Cdhr1 |
A |
C |
14: 36,802,505 (GRCm39) |
W653G |
probably damaging |
Het |
Cln6 |
T |
A |
9: 62,756,465 (GRCm39) |
M203K |
probably benign |
Het |
Crnn |
A |
C |
3: 93,054,251 (GRCm39) |
I45L |
possibly damaging |
Het |
Cse1l |
C |
A |
2: 166,783,185 (GRCm39) |
N743K |
probably damaging |
Het |
Cyp1a2 |
A |
G |
9: 57,589,583 (GRCm39) |
I77T |
probably damaging |
Het |
D6Wsu163e |
A |
G |
6: 126,943,932 (GRCm39) |
I443V |
probably benign |
Het |
Dnah7a |
G |
T |
1: 53,540,757 (GRCm39) |
T2539N |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,875,444 (GRCm39) |
D173E |
probably damaging |
Het |
Fam13c |
A |
G |
10: 70,388,869 (GRCm39) |
E465G |
probably damaging |
Het |
Fat4 |
G |
C |
3: 39,063,390 (GRCm39) |
G4449R |
probably damaging |
Het |
Fgd5 |
T |
C |
6: 92,015,191 (GRCm39) |
L964S |
probably damaging |
Het |
Fpr3 |
A |
T |
17: 18,191,131 (GRCm39) |
Q134L |
probably damaging |
Het |
Gm973 |
A |
T |
1: 59,591,585 (GRCm39) |
Q323L |
possibly damaging |
Het |
Gna15 |
A |
G |
10: 81,345,224 (GRCm39) |
S214P |
probably benign |
Het |
Iars2 |
A |
T |
1: 185,050,146 (GRCm39) |
M446K |
possibly damaging |
Het |
Kcnh7 |
A |
G |
2: 62,607,947 (GRCm39) |
S545P |
probably damaging |
Het |
Kif1a |
G |
T |
1: 92,979,202 (GRCm39) |
D928E |
probably damaging |
Het |
Kif26a |
C |
T |
12: 112,144,480 (GRCm39) |
T1578M |
possibly damaging |
Het |
Kif5a |
A |
G |
10: 127,079,227 (GRCm39) |
|
probably null |
Het |
Klhl31 |
T |
A |
9: 77,558,389 (GRCm39) |
Y368* |
probably null |
Het |
Krtap27-1 |
A |
G |
16: 88,468,316 (GRCm39) |
V76A |
possibly damaging |
Het |
Lamc1 |
A |
T |
1: 153,126,197 (GRCm39) |
H498Q |
probably damaging |
Het |
Ltbp4 |
A |
T |
7: 27,022,350 (GRCm39) |
C924S |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,197,298 (GRCm39) |
D1180G |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,577,925 (GRCm39) |
C20R |
unknown |
Het |
Mpp7 |
T |
C |
18: 7,403,327 (GRCm39) |
R328G |
probably benign |
Het |
Ncdn |
A |
T |
4: 126,644,041 (GRCm39) |
D260E |
probably benign |
Het |
Nlrp9a |
C |
A |
7: 26,257,656 (GRCm39) |
L425M |
possibly damaging |
Het |
Nop9 |
T |
A |
14: 55,987,592 (GRCm39) |
|
probably null |
Het |
Nrip1 |
T |
C |
16: 76,089,616 (GRCm39) |
E647G |
possibly damaging |
Het |
Nt5c3 |
C |
A |
6: 56,874,793 (GRCm39) |
M1I |
probably null |
Het |
Or4f61 |
A |
G |
2: 111,922,410 (GRCm39) |
F212S |
probably benign |
Het |
Or52a5b |
A |
G |
7: 103,417,478 (GRCm39) |
I42T |
probably benign |
Het |
Or8c14-ps1 |
T |
C |
9: 38,101,120 (GRCm39) |
M33T |
possibly damaging |
Het |
Patj |
A |
T |
4: 98,427,310 (GRCm39) |
I172F |
unknown |
Het |
Plxna4 |
A |
T |
6: 32,494,379 (GRCm39) |
V79D |
probably damaging |
Het |
Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
Rbm27 |
T |
A |
18: 42,447,163 (GRCm39) |
Y469* |
probably null |
Het |
Rbm33 |
A |
G |
5: 28,557,584 (GRCm39) |
T266A |
probably damaging |
Het |
Rcbtb2 |
C |
T |
14: 73,414,500 (GRCm39) |
S437L |
probably damaging |
Het |
Rcor3 |
A |
T |
1: 191,785,895 (GRCm39) |
*448R |
probably null |
Het |
Scn10a |
T |
C |
9: 119,445,827 (GRCm39) |
Y1442C |
probably damaging |
Het |
Scn2a |
A |
T |
2: 65,548,131 (GRCm39) |
I1108F |
probably damaging |
Het |
Scrn2 |
T |
C |
11: 96,922,962 (GRCm39) |
I135T |
probably damaging |
Het |
Sptan1 |
A |
T |
2: 29,920,724 (GRCm39) |
M2380L |
possibly damaging |
Het |
Tbc1d12 |
T |
C |
19: 38,825,442 (GRCm39) |
S98P |
probably benign |
Het |
Tmem106b |
A |
T |
6: 13,082,430 (GRCm39) |
T202S |
probably damaging |
Het |
Tnfsf8 |
A |
G |
4: 63,752,450 (GRCm39) |
V205A |
probably benign |
Het |
Tor4a |
A |
T |
2: 25,084,975 (GRCm39) |
N309K |
probably damaging |
Het |
Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
Tspyl4 |
A |
G |
10: 34,173,568 (GRCm39) |
H20R |
probably benign |
Het |
Tvp23b |
T |
C |
11: 62,772,842 (GRCm39) |
I31T |
possibly damaging |
Het |
Vmn1r192 |
A |
T |
13: 22,371,401 (GRCm39) |
F273Y |
probably damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,467,032 (GRCm39) |
I156F |
probably damaging |
Het |
Zfp329 |
A |
T |
7: 12,545,085 (GRCm39) |
D146E |
probably benign |
Het |
Zfp40 |
A |
G |
17: 23,394,551 (GRCm39) |
F679L |
probably damaging |
Het |
Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,822,154 (GRCm39) |
N303S |
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 |
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 |
|
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'- AAGTCCCTGTGGCACAAGAC -3'
(R):5'- ACAAGTTCGTGGATGAAAGCC -3'
Sequencing Primer
(F):5'- GACACACACTTAGCAATTGGTG -3'
(R):5'- TTCGTGGATGAAAGCCGCAAAC -3'
|
Posted On |
2022-02-07 |