Incidental Mutation 'R5293:Wnk4'
| ID |
405260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnk4
|
| Ensembl Gene |
ENSMUSG00000035112 |
| Gene Name |
WNK lysine deficient protein kinase 4 |
| Synonyms |
2010002J11Rik, Prkwnk4 |
| MMRRC Submission |
042876-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R5293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101151393-101168235 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to G
at 101166023 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 |
unknown
Transcript: ENSMUST00000103108
AA Change: L850R
|
| SMART Domains |
Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: L850R
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,300,722 (GRCm39) |
V269A |
possibly damaging |
Het |
| Akap9 |
C |
T |
5: 3,998,687 (GRCm39) |
R19W |
probably damaging |
Het |
| Akr7a5 |
G |
T |
4: 139,041,517 (GRCm39) |
R142L |
probably benign |
Het |
| Atp6v0a2 |
A |
T |
5: 124,784,649 (GRCm39) |
M311L |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,844 (GRCm39) |
R17H |
probably damaging |
Het |
| Ccdc116 |
A |
T |
16: 16,959,651 (GRCm39) |
L346Q |
possibly damaging |
Het |
| Copg2 |
T |
A |
6: 30,803,162 (GRCm39) |
N261I |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,170,871 (GRCm39) |
E648G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,868,851 (GRCm39) |
K2334Q |
probably benign |
Het |
| Foxa2 |
T |
C |
2: 147,885,922 (GRCm39) |
T123A |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,601,382 (GRCm39) |
V299A |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,733,640 (GRCm39) |
S26P |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,136,883 (GRCm39) |
S84G |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,047,235 (GRCm39) |
H45R |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,176 (GRCm39) |
Y626H |
probably damaging |
Het |
| Mmp19 |
T |
A |
10: 128,626,970 (GRCm39) |
V16D |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,023,599 (GRCm39) |
N280S |
probably benign |
Het |
| Myl7 |
T |
A |
11: 5,848,521 (GRCm39) |
|
probably benign |
Het |
| Ngef |
CCCTCCTCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTCCTCCTC |
1: 87,431,151 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,330,614 (GRCm39) |
L594R |
probably damaging |
Het |
| Or2y3 |
T |
A |
17: 38,393,131 (GRCm39) |
H246L |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,813,611 (GRCm39) |
K269N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,486 (GRCm39) |
T162A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,399,146 (GRCm39) |
V2070A |
probably benign |
Het |
| Plcxd2 |
G |
T |
16: 45,800,706 (GRCm39) |
H173N |
probably damaging |
Het |
| Plec |
C |
G |
15: 76,083,783 (GRCm39) |
W26C |
probably benign |
Het |
| Psmc1 |
C |
T |
12: 100,081,731 (GRCm39) |
T111I |
probably benign |
Het |
| Rbfa |
T |
C |
18: 80,235,981 (GRCm39) |
E256G |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,046,050 (GRCm39) |
T173S |
probably benign |
Het |
| Slc41a3 |
T |
A |
6: 90,603,426 (GRCm39) |
V149E |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,665,757 (GRCm39) |
S186P |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,908,111 (GRCm39) |
D29G |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,032,996 (GRCm39) |
V43A |
possibly damaging |
Het |
| Spen |
G |
A |
4: 141,199,717 (GRCm39) |
A2947V |
possibly damaging |
Het |
| Spta1 |
T |
C |
1: 174,023,551 (GRCm39) |
S653P |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,872,596 (GRCm39) |
Y411* |
probably null |
Het |
| Synrg |
C |
T |
11: 83,872,325 (GRCm39) |
L149F |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,946,377 (GRCm39) |
A1085V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,571,276 (GRCm39) |
E18212G |
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 |
|
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 |
|
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'- AGTGGTCTCGAATTTCAACCC -3'
(R):5'- CAGTCATCACAGCCAGAGAG -3'
Sequencing Primer
(F):5'- TCTTCAGCAGAGCCCCAGAG -3'
(R):5'- GCACTAGCCAGAGAGAGGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation