Incidental Mutation 'IGL02197:Wnk4'
ID |
284066 |
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 # |
IGL02197
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101151393-101168235 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101154783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 324
(L324P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131298
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042477]
[ENSMUST00000100414]
[ENSMUST00000103108]
[ENSMUST00000107280]
[ENSMUST00000121331]
[ENSMUST00000128260]
[ENSMUST00000147741]
[ENSMUST00000139487]
[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: L324P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099397 Gene: ENSMUSG00000035112 AA Change: L324P
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: ENSMUST00000107280
|
SMART Domains |
Protein: ENSMUSP00000102901 Gene: ENSMUSG00000078656
Domain | Start | End | E-Value | Type |
Pfam:ESCRT-II
|
10 |
153 |
7.2e-56 |
PFAM |
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121331
|
SMART Domains |
Protein: ENSMUSP00000114100 Gene: ENSMUSG00000078656
Domain | Start | End | E-Value | Type |
Pfam:ESCRT-II
|
1 |
99 |
1.8e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123529
|
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 damaging
Transcript: ENSMUST00000147741
AA Change: L324P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131298 Gene: ENSMUSG00000035112 AA Change: L324P
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 |
noncoding transcript
Transcript: ENSMUST00000156205
|
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: 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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
T |
C |
2: 20,885,117 (GRCm39) |
S526G |
probably benign |
Het |
Atad2b |
A |
T |
12: 5,068,056 (GRCm39) |
N1018I |
possibly damaging |
Het |
Baz1b |
A |
G |
5: 135,237,951 (GRCm39) |
E209G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,960,884 (GRCm39) |
T445A |
probably damaging |
Het |
Capn11 |
T |
A |
17: 45,950,782 (GRCm39) |
T264S |
probably benign |
Het |
Cdh1 |
A |
G |
8: 107,380,418 (GRCm39) |
E187G |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,196,923 (GRCm39) |
I325V |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,687,152 (GRCm39) |
|
probably benign |
Het |
Dnaaf3 |
T |
C |
7: 4,530,496 (GRCm39) |
D203G |
probably damaging |
Het |
Eif2ak3 |
A |
G |
6: 70,878,441 (GRCm39) |
Y1045C |
probably benign |
Het |
Fam13a |
T |
A |
6: 58,912,586 (GRCm39) |
D689V |
possibly damaging |
Het |
Fnip1 |
T |
A |
11: 54,384,200 (GRCm39) |
L342I |
probably damaging |
Het |
Frk |
T |
A |
10: 34,360,330 (GRCm39) |
N110K |
probably damaging |
Het |
Gm5134 |
T |
C |
10: 75,790,536 (GRCm39) |
|
probably null |
Het |
Gm53 |
T |
C |
11: 96,142,549 (GRCm39) |
|
noncoding transcript |
Het |
Gm9312 |
A |
T |
12: 24,302,163 (GRCm39) |
|
noncoding transcript |
Het |
Gm9936 |
A |
G |
5: 114,995,152 (GRCm39) |
|
probably benign |
Het |
Hk3 |
A |
G |
13: 55,162,281 (GRCm39) |
F108L |
probably damaging |
Het |
Homer2 |
A |
T |
7: 81,260,147 (GRCm39) |
S296T |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,357,145 (GRCm39) |
H245L |
probably benign |
Het |
Ky |
T |
C |
9: 102,414,985 (GRCm39) |
F299S |
possibly damaging |
Het |
Lama5 |
A |
G |
2: 179,849,012 (GRCm39) |
Y224H |
possibly damaging |
Het |
Leng9 |
G |
T |
7: 4,151,723 (GRCm39) |
L318I |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,608,408 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,297,224 (GRCm39) |
I3246V |
probably benign |
Het |
Map2k3 |
A |
G |
11: 60,837,590 (GRCm39) |
Y230C |
probably damaging |
Het |
Myef2 |
T |
C |
2: 124,955,959 (GRCm39) |
|
probably null |
Het |
Myh3 |
A |
T |
11: 66,989,409 (GRCm39) |
I1510L |
probably benign |
Het |
Mypn |
T |
C |
10: 62,959,057 (GRCm39) |
D1088G |
possibly damaging |
Het |
Nek9 |
C |
A |
12: 85,354,704 (GRCm39) |
V745L |
probably null |
Het |
Neu1 |
T |
A |
17: 35,153,641 (GRCm39) |
V355D |
possibly damaging |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,028 (GRCm39) |
T73A |
probably benign |
Het |
Or6e1 |
T |
C |
14: 54,519,409 (GRCm39) |
*314W |
probably null |
Het |
Papola |
A |
T |
12: 105,795,442 (GRCm39) |
N631I |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 81,965,878 (GRCm39) |
S682P |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,039,925 (GRCm39) |
S2071P |
possibly damaging |
Het |
Pga5 |
A |
G |
19: 10,649,277 (GRCm39) |
|
probably benign |
Het |
Phlda1 |
T |
A |
10: 111,343,014 (GRCm39) |
M250K |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,253,869 (GRCm39) |
|
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,699,994 (GRCm39) |
Y1981H |
possibly damaging |
Het |
Pold1 |
G |
A |
7: 44,191,663 (GRCm39) |
P108S |
probably benign |
Het |
Ptprg |
T |
G |
14: 12,220,613 (GRCm38) |
F442V |
probably damaging |
Het |
Rab36 |
A |
G |
10: 74,887,874 (GRCm39) |
I248M |
probably damaging |
Het |
Scnn1b |
G |
A |
7: 121,502,113 (GRCm39) |
R257Q |
probably null |
Het |
Sdc1 |
A |
G |
12: 8,840,835 (GRCm39) |
Q200R |
possibly damaging |
Het |
Slc10a7 |
A |
G |
8: 79,242,292 (GRCm39) |
T60A |
probably damaging |
Het |
Snx13 |
A |
G |
12: 35,156,800 (GRCm39) |
D484G |
probably damaging |
Het |
Tlr1 |
G |
A |
5: 65,083,797 (GRCm39) |
T260M |
probably damaging |
Het |
Tpcn1 |
A |
G |
5: 120,691,596 (GRCm39) |
V286A |
probably damaging |
Het |
Traip |
T |
G |
9: 107,845,936 (GRCm39) |
L343R |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,165,828 (GRCm39) |
H204R |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,569,224 (GRCm39) |
S960G |
probably benign |
Het |
V1ra8 |
C |
T |
6: 90,180,184 (GRCm39) |
P129L |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,930,202 (GRCm39) |
F3980I |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,854,879 (GRCm39) |
N2248S |
probably benign |
Het |
Vps26c |
G |
T |
16: 94,302,549 (GRCm39) |
|
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 |
|
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 |
2015-04-16 |