Incidental Mutation 'R9611:Wnk4'
ID |
724234 |
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 # |
R9611 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101151393-101168235 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 101159250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 556
(E556*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103108]
[ENSMUST00000139487]
[ENSMUST00000147741]
[ENSMUST00000170056]
|
AlphaFold |
Q80UE6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000103108
AA Change: E556*
|
SMART Domains |
Protein: ENSMUSP00000099397 Gene: ENSMUSG00000035112 AA Change: E556*
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 null
Transcript: ENSMUST00000170056
AA Change: E119*
|
SMART Domains |
Protein: ENSMUSP00000132123 Gene: ENSMUSG00000035112 AA Change: E119*
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
T |
18: 59,023,399 (GRCm39) |
T265S |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,989,162 (GRCm39) |
L3482Q |
probably damaging |
Het |
Arhgef5 |
A |
G |
6: 43,257,890 (GRCm39) |
I1311M |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,990,743 (GRCm39) |
Y750N |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,990,745 (GRCm39) |
Y750* |
probably null |
Het |
Btbd16 |
T |
A |
7: 130,407,595 (GRCm39) |
M295K |
probably benign |
Het |
Ccdc88a |
T |
C |
11: 29,427,316 (GRCm39) |
L1007P |
possibly damaging |
Het |
Cnep1r1 |
A |
G |
8: 88,860,457 (GRCm39) |
*126W |
probably null |
Het |
Cntnap5b |
C |
A |
1: 99,894,935 (GRCm39) |
P69Q |
probably damaging |
Het |
Coa8 |
T |
G |
12: 111,700,108 (GRCm39) |
Y163D |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,678,018 (GRCm39) |
M1207V |
unknown |
Het |
Colgalt2 |
T |
A |
1: 152,360,745 (GRCm39) |
W261R |
probably damaging |
Het |
Cstf1 |
T |
A |
2: 172,214,984 (GRCm39) |
I35N |
probably benign |
Het |
Cstpp1 |
T |
C |
2: 91,135,127 (GRCm39) |
D111G |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,830,823 (GRCm39) |
L1690P |
possibly damaging |
Het |
Dscaml1 |
C |
A |
9: 45,579,522 (GRCm39) |
N356K |
possibly damaging |
Het |
Ecm2 |
A |
G |
13: 49,668,518 (GRCm39) |
N74D |
probably benign |
Het |
Ecm2 |
A |
G |
13: 49,681,216 (GRCm39) |
I450M |
probably damaging |
Het |
Emc1 |
T |
A |
4: 139,091,035 (GRCm39) |
D460E |
probably benign |
Het |
Fhip2b |
T |
C |
14: 70,824,258 (GRCm39) |
Y493C |
probably benign |
Het |
Fmo5 |
C |
T |
3: 97,549,089 (GRCm39) |
R246C |
possibly damaging |
Het |
Fyco1 |
T |
C |
9: 123,657,585 (GRCm39) |
T864A |
possibly damaging |
Het |
Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
Gcsh |
T |
A |
8: 117,720,125 (GRCm39) |
Y14F |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Gucy2g |
T |
C |
19: 55,194,605 (GRCm39) |
I937M |
probably damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,880,600 (GRCm39) |
I370M |
possibly damaging |
Het |
Hypk |
T |
C |
2: 121,288,154 (GRCm39) |
S72P |
probably damaging |
Het |
Ighv1-26 |
T |
C |
12: 114,752,206 (GRCm39) |
Y46C |
probably damaging |
Het |
Kctd13 |
G |
T |
7: 126,544,180 (GRCm39) |
G293C |
probably damaging |
Het |
Kmt2d |
CTGCTGTTGCTG |
CTGCTG |
15: 98,743,054 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
Krt13 |
T |
C |
11: 100,012,318 (GRCm39) |
S2G |
probably benign |
Het |
Mark4 |
C |
A |
7: 19,167,338 (GRCm39) |
R467L |
possibly damaging |
Het |
Mrps33 |
T |
A |
6: 39,779,422 (GRCm39) |
K91M |
probably damaging |
Het |
Or51f1 |
T |
G |
7: 102,506,147 (GRCm39) |
H114P |
probably damaging |
Het |
Or5ac25 |
A |
C |
16: 59,182,242 (GRCm39) |
I113S |
probably benign |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Phldb3 |
G |
A |
7: 24,328,372 (GRCm39) |
V639M |
probably damaging |
Het |
Pigyl |
A |
T |
9: 22,069,499 (GRCm39) |
H70L |
probably damaging |
Het |
Pip4k2c |
A |
C |
10: 127,036,069 (GRCm39) |
L266R |
probably damaging |
Het |
Plg |
T |
C |
17: 12,609,213 (GRCm39) |
Y173H |
probably benign |
Het |
Pmp22 |
G |
T |
11: 63,024,065 (GRCm39) |
V25F |
probably benign |
Het |
Pot1b |
T |
A |
17: 56,006,995 (GRCm39) |
T41S |
probably benign |
Het |
Ppp1r16b |
T |
A |
2: 158,537,998 (GRCm39) |
Y40N |
probably damaging |
Het |
Prl5a1 |
A |
G |
13: 28,329,492 (GRCm39) |
E57G |
possibly damaging |
Het |
Prpf3 |
G |
A |
3: 95,758,931 (GRCm39) |
R74* |
probably null |
Het |
Psmb10 |
A |
G |
8: 106,664,144 (GRCm39) |
F75S |
probably benign |
Het |
Ptprm |
C |
A |
17: 67,000,483 (GRCm39) |
R1167M |
probably damaging |
Het |
Rmnd5b |
T |
C |
11: 51,517,869 (GRCm39) |
I162V |
probably damaging |
Het |
Sik1 |
T |
A |
17: 32,073,246 (GRCm39) |
K70M |
probably damaging |
Het |
Slc44a4 |
C |
T |
17: 35,147,793 (GRCm39) |
S611F |
probably benign |
Het |
St18 |
T |
C |
1: 6,873,147 (GRCm39) |
V294A |
probably benign |
Het |
Stk32a |
A |
G |
18: 43,430,620 (GRCm39) |
I177V |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,080,460 (GRCm39) |
F58S |
probably benign |
Het |
Tcf7l2 |
A |
G |
19: 55,899,038 (GRCm39) |
D215G |
probably null |
Het |
Tcirg1 |
A |
T |
19: 3,953,400 (GRCm39) |
F149Y |
probably benign |
Het |
Tex14 |
T |
A |
11: 87,377,084 (GRCm39) |
F143I |
probably damaging |
Het |
Tjp3 |
A |
G |
10: 81,119,411 (GRCm39) |
V26A |
possibly damaging |
Het |
Tnfaip8 |
ACACACTCTC |
AC |
18: 50,179,908 (GRCm39) |
|
probably benign |
Het |
Tpx2 |
T |
A |
2: 152,715,124 (GRCm39) |
V115D |
probably benign |
Het |
Tubb2b |
C |
A |
13: 34,311,742 (GRCm39) |
K350N |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,642,555 (GRCm39) |
G1389V |
possibly damaging |
Het |
Vps39 |
T |
C |
2: 120,172,485 (GRCm39) |
R183G |
probably damaging |
Het |
Wdr47 |
A |
T |
3: 108,518,729 (GRCm39) |
E72D |
probably damaging |
Het |
Xpo7 |
T |
A |
14: 70,925,617 (GRCm39) |
E474V |
probably benign |
Het |
Zfat |
A |
G |
15: 68,051,655 (GRCm39) |
V713A |
possibly damaging |
Het |
Zfp189 |
G |
T |
4: 49,530,058 (GRCm39) |
C387F |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,651,022 (GRCm39) |
V502A |
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 |
|
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 |
|
R9674:Wnk4
|
UTSW |
11 |
101,166,874 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGAAACTGTCGCCCATCC -3'
(R):5'- TCTAAGCAAAGAGGGGCCTG -3'
Sequencing Primer
(F):5'- GTCTGTGAAGCTGACTACCAG -3'
(R):5'- GGGGACCTAGAACTCAAA -3'
|
Posted On |
2022-09-12 |