Incidental Mutation 'IGL01401:Wnk4'
ID |
79659 |
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)
|
Stock # |
IGL01401
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101151393-101168235 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 101167509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000099397 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 |
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 |
|
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 |
Adgrl3 |
T |
C |
5: 81,836,516 (GRCm39) |
V758A |
possibly damaging |
Het |
Arf4 |
T |
C |
14: 26,359,609 (GRCm39) |
L12P |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 36,996,441 (GRCm39) |
N1051S |
probably benign |
Het |
C4bp |
A |
T |
1: 130,575,801 (GRCm39) |
V230E |
possibly damaging |
Het |
Carm1 |
T |
A |
9: 21,480,878 (GRCm39) |
|
probably null |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Ceacam16 |
T |
C |
7: 19,595,054 (GRCm39) |
Y8C |
probably benign |
Het |
Ckap2l |
A |
T |
2: 129,111,136 (GRCm39) |
V687E |
probably damaging |
Het |
Dcaf4 |
A |
G |
12: 83,588,148 (GRCm39) |
D449G |
probably damaging |
Het |
Dhx38 |
T |
C |
8: 110,278,746 (GRCm39) |
Y1113C |
probably benign |
Het |
Fry |
A |
G |
5: 150,362,253 (GRCm39) |
I161V |
probably benign |
Het |
Gm17093 |
A |
C |
14: 44,758,984 (GRCm39) |
M169L |
unknown |
Het |
Gm20721 |
A |
G |
2: 174,187,295 (GRCm39) |
D999G |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,713,361 (GRCm39) |
H840R |
probably damaging |
Het |
Hoxc12 |
C |
A |
15: 102,845,755 (GRCm39) |
H156Q |
probably benign |
Het |
Htr3b |
T |
C |
9: 48,858,934 (GRCm39) |
D68G |
probably damaging |
Het |
Inpp5b |
T |
C |
4: 124,639,880 (GRCm39) |
V99A |
probably damaging |
Het |
Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
Lmo7 |
C |
T |
14: 102,031,713 (GRCm39) |
R36* |
probably null |
Het |
Lmod3 |
T |
G |
6: 97,229,513 (GRCm39) |
N7T |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mthfd2l |
T |
A |
5: 91,148,425 (GRCm39) |
I284K |
possibly damaging |
Het |
Myo1e |
T |
A |
9: 70,234,448 (GRCm39) |
I267N |
probably damaging |
Het |
Or13c7d |
T |
C |
4: 43,770,112 (GRCm39) |
R300G |
probably damaging |
Het |
Or2y1g |
T |
A |
11: 49,171,314 (GRCm39) |
V113E |
possibly damaging |
Het |
Prkce |
T |
C |
17: 86,476,268 (GRCm39) |
V83A |
probably damaging |
Het |
Pxdn |
G |
T |
12: 30,051,983 (GRCm39) |
C540F |
probably damaging |
Het |
Resf1 |
A |
G |
6: 149,228,394 (GRCm39) |
E480G |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,606,238 (GRCm39) |
E4448V |
possibly damaging |
Het |
Scn1a |
A |
T |
2: 66,119,455 (GRCm39) |
N1349K |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 109,979,033 (GRCm39) |
I172T |
possibly damaging |
Het |
Syt16 |
T |
C |
12: 74,269,437 (GRCm39) |
V92A |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,474 (GRCm39) |
Y1672C |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,838,468 (GRCm39) |
Y1486H |
probably damaging |
Het |
Tmem132a |
A |
G |
19: 10,838,888 (GRCm39) |
|
probably benign |
Het |
Usp40 |
A |
T |
1: 87,921,920 (GRCm39) |
D314E |
probably damaging |
Het |
Vmn2r79 |
G |
A |
7: 86,686,481 (GRCm39) |
V621I |
probably benign |
Het |
Wwc1 |
C |
A |
11: 35,789,445 (GRCm39) |
|
probably null |
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 |
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 |
2013-11-05 |