Incidental Mutation 'R6164:Wnk4'
ID |
490064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wnk4
|
Ensembl Gene |
ENSMUSG00000035112 |
Gene Name |
WNK lysine deficient protein kinase 4 |
Synonyms |
2010002J11Rik, Prkwnk4 |
MMRRC Submission |
044310-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R6164 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101151393-101168235 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101165894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 807
(A807V)
|
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 |
possibly damaging
Transcript: ENSMUST00000103108
AA Change: A807V
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099397 Gene: ENSMUSG00000035112 AA Change: A807V
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: 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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (61/62) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anpep |
A |
G |
7: 79,491,953 (GRCm39) |
I16T |
possibly damaging |
Het |
Ap1s1 |
T |
C |
5: 137,066,240 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
T |
C |
1: 172,106,459 (GRCm39) |
S848G |
probably damaging |
Het |
Bche |
T |
A |
3: 73,608,389 (GRCm39) |
I346F |
possibly damaging |
Het |
Ccdc148 |
T |
A |
2: 58,713,645 (GRCm39) |
Y502F |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,919,642 (GRCm39) |
M416V |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,071,331 (GRCm39) |
S351P |
probably benign |
Het |
Cfap100 |
T |
C |
6: 90,392,768 (GRCm39) |
E114G |
probably benign |
Het |
Clec4a4 |
T |
C |
6: 122,968,833 (GRCm39) |
I66T |
possibly damaging |
Het |
Cpeb4 |
T |
C |
11: 31,870,584 (GRCm39) |
|
probably null |
Het |
Cybrd1 |
T |
C |
2: 70,948,618 (GRCm39) |
V52A |
probably damaging |
Het |
Decr1 |
G |
A |
4: 15,924,347 (GRCm39) |
A191V |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,378,489 (GRCm39) |
I2942L |
probably benign |
Het |
Ehd4 |
C |
T |
2: 119,932,689 (GRCm39) |
V246I |
possibly damaging |
Het |
Ercc6l2 |
A |
G |
13: 64,020,158 (GRCm39) |
|
probably benign |
Het |
Exoc4 |
T |
A |
6: 33,309,218 (GRCm39) |
M280K |
probably damaging |
Het |
Fmo1 |
T |
G |
1: 162,678,979 (GRCm39) |
E89A |
probably benign |
Het |
Foxm1 |
A |
G |
6: 128,350,898 (GRCm39) |
D733G |
probably benign |
Het |
Garin5b |
T |
C |
7: 4,773,677 (GRCm39) |
T73A |
probably damaging |
Het |
Gulp1 |
A |
C |
1: 44,793,511 (GRCm39) |
R57S |
probably damaging |
Het |
Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
Hdac4 |
G |
T |
1: 91,957,876 (GRCm39) |
A46E |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,241,966 (GRCm39) |
S567P |
possibly damaging |
Het |
Insyn1 |
C |
A |
9: 58,406,530 (GRCm39) |
P147T |
probably damaging |
Het |
Iqgap1 |
A |
C |
7: 80,458,854 (GRCm39) |
C21W |
unknown |
Het |
Isoc2a |
T |
C |
7: 4,894,488 (GRCm39) |
L57P |
probably damaging |
Het |
Krt34 |
G |
A |
11: 99,929,272 (GRCm39) |
Q313* |
probably null |
Het |
Krt6a |
C |
T |
15: 101,601,008 (GRCm39) |
V263I |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 65,040,719 (GRCm39) |
I106V |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,469,675 (GRCm39) |
D7300G |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,417,082 (GRCm39) |
S3343C |
possibly damaging |
Het |
Mup11 |
C |
T |
4: 60,618,239 (GRCm39) |
E21K |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 70,075,754 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,095,507 (GRCm39) |
L795P |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,548,220 (GRCm39) |
Y984* |
probably null |
Het |
Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
Or2d3 |
G |
T |
7: 106,491,135 (GRCm39) |
Y60* |
probably null |
Het |
Or5p52 |
A |
G |
7: 107,502,595 (GRCm39) |
T224A |
probably benign |
Het |
Osmr |
A |
G |
15: 6,889,833 (GRCm39) |
V5A |
probably benign |
Het |
Pabir1 |
T |
A |
19: 24,454,450 (GRCm39) |
M91L |
probably benign |
Het |
Pcsk5 |
A |
G |
19: 17,814,317 (GRCm39) |
|
probably null |
Het |
Pex11a |
G |
A |
7: 79,387,127 (GRCm39) |
T235M |
probably damaging |
Het |
Pik3r6 |
A |
G |
11: 68,442,799 (GRCm39) |
T730A |
probably benign |
Het |
Ppp1r9a |
C |
T |
6: 5,110,715 (GRCm39) |
|
probably benign |
Het |
Ppp2r2d |
T |
C |
7: 138,474,742 (GRCm39) |
I41T |
probably damaging |
Het |
Prdm1 |
C |
T |
10: 44,326,191 (GRCm39) |
R126H |
probably damaging |
Het |
Primpol |
C |
T |
8: 47,039,477 (GRCm39) |
R381H |
probably benign |
Het |
Prl7a1 |
C |
A |
13: 27,821,626 (GRCm39) |
Q102H |
probably benign |
Het |
Rbpjl |
T |
C |
2: 164,252,799 (GRCm39) |
L284P |
probably damaging |
Het |
Rgs21 |
A |
T |
1: 144,417,035 (GRCm39) |
C6S |
probably benign |
Het |
Rnasel |
T |
C |
1: 153,630,138 (GRCm39) |
V218A |
probably benign |
Het |
Sag |
G |
T |
1: 87,752,175 (GRCm39) |
V223L |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 142,117,824 (GRCm39) |
T1574M |
probably damaging |
Het |
Secisbp2 |
G |
A |
13: 51,833,896 (GRCm39) |
V679M |
probably damaging |
Het |
Sele |
T |
A |
1: 163,879,386 (GRCm39) |
|
probably null |
Het |
Senp7 |
T |
A |
16: 55,990,117 (GRCm39) |
L622M |
probably damaging |
Het |
Sgo1 |
G |
A |
17: 53,983,981 (GRCm39) |
R466C |
probably damaging |
Het |
Sh3tc1 |
C |
A |
5: 35,863,590 (GRCm39) |
V866L |
probably benign |
Het |
Snrnp25 |
T |
A |
11: 32,157,647 (GRCm39) |
V75D |
probably benign |
Het |
Syne1 |
C |
T |
10: 5,011,429 (GRCm39) |
C7899Y |
probably damaging |
Het |
U2af1l4 |
T |
C |
7: 30,264,007 (GRCm39) |
S55P |
probably damaging |
Het |
Vmn1r23 |
A |
G |
6: 57,903,040 (GRCm39) |
I246T |
possibly damaging |
Het |
Vmn1r66 |
T |
A |
7: 10,008,329 (GRCm39) |
R235* |
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 |
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 |
|
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'- ACCTCTGGGTTGACCTTGTG -3'
(R):5'- CAGTCATCACAGCCAGAGAG -3'
Sequencing Primer
(F):5'- CCTTGTGGAGGGTGAAGGGTATAG -3'
(R):5'- CTAAGAGGGTCTTGGGGATAAC -3'
|
Posted On |
2017-10-10 |