Incidental Mutation 'R0453:Wnk1'
ID |
39763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wnk1
|
Ensembl Gene |
ENSMUSG00000045962 |
Gene Name |
WNK lysine deficient protein kinase 1 |
Synonyms |
Prkwnk1, 6430573H23Rik, EG406236, Hsn2 |
MMRRC Submission |
038653-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0453 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
119900930-120015633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119940112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 173
(V173A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136086
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060043]
[ENSMUST00000088644]
[ENSMUST00000088646]
[ENSMUST00000160686]
[ENSMUST00000161512]
[ENSMUST00000177761]
[ENSMUST00000203030]
|
AlphaFold |
P83741 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060043
|
SMART Domains |
Protein: ENSMUSP00000063001 Gene: ENSMUSG00000045962
Domain | Start | End | E-Value | Type |
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
221 |
477 |
1.5e-44 |
PFAM |
Pfam:Pkinase
|
221 |
479 |
4.4e-58 |
PFAM |
Pfam:OSR1_C
|
500 |
537 |
2e-22 |
PFAM |
coiled coil region
|
563 |
597 |
N/A |
INTRINSIC |
low complexity region
|
734 |
746 |
N/A |
INTRINSIC |
low complexity region
|
865 |
876 |
N/A |
INTRINSIC |
low complexity region
|
1018 |
1028 |
N/A |
INTRINSIC |
low complexity region
|
1042 |
1058 |
N/A |
INTRINSIC |
internal_repeat_1
|
1136 |
1178 |
2.15e-5 |
PROSPERO |
low complexity region
|
1289 |
1305 |
N/A |
INTRINSIC |
low complexity region
|
1345 |
1357 |
N/A |
INTRINSIC |
low complexity region
|
1379 |
1396 |
N/A |
INTRINSIC |
low complexity region
|
1398 |
1428 |
N/A |
INTRINSIC |
low complexity region
|
1429 |
1454 |
N/A |
INTRINSIC |
low complexity region
|
1496 |
1515 |
N/A |
INTRINSIC |
low complexity region
|
1542 |
1556 |
N/A |
INTRINSIC |
low complexity region
|
1586 |
1609 |
N/A |
INTRINSIC |
low complexity region
|
1670 |
1691 |
N/A |
INTRINSIC |
low complexity region
|
1698 |
1712 |
N/A |
INTRINSIC |
low complexity region
|
1738 |
1764 |
N/A |
INTRINSIC |
low complexity region
|
1882 |
1900 |
N/A |
INTRINSIC |
coiled coil region
|
2065 |
2092 |
N/A |
INTRINSIC |
low complexity region
|
2103 |
2114 |
N/A |
INTRINSIC |
low complexity region
|
2116 |
2140 |
N/A |
INTRINSIC |
low complexity region
|
2208 |
2232 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088644
AA Change: V875A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000086017 Gene: ENSMUSG00000045962 AA Change: V875A
Domain | Start | End | E-Value | Type |
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
221 |
477 |
5.5e-44 |
PFAM |
Pfam:Pkinase
|
221 |
479 |
4.3e-56 |
PFAM |
Pfam:OSR1_C
|
500 |
537 |
1.9e-22 |
PFAM |
coiled coil region
|
563 |
597 |
N/A |
INTRINSIC |
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
low complexity region
|
919 |
935 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1063 |
N/A |
INTRINSIC |
low complexity region
|
1067 |
1076 |
N/A |
INTRINSIC |
low complexity region
|
1146 |
1158 |
N/A |
INTRINSIC |
low complexity region
|
1276 |
1286 |
N/A |
INTRINSIC |
low complexity region
|
1300 |
1316 |
N/A |
INTRINSIC |
internal_repeat_1
|
1394 |
1436 |
2.19e-5 |
PROSPERO |
low complexity region
|
1547 |
1563 |
N/A |
INTRINSIC |
low complexity region
|
1603 |
1615 |
N/A |
INTRINSIC |
low complexity region
|
1637 |
1654 |
N/A |
INTRINSIC |
low complexity region
|
1656 |
1686 |
N/A |
INTRINSIC |
low complexity region
|
1687 |
1712 |
N/A |
INTRINSIC |
low complexity region
|
1754 |
1773 |
N/A |
INTRINSIC |
low complexity region
|
1800 |
1814 |
N/A |
INTRINSIC |
low complexity region
|
1844 |
1867 |
N/A |
INTRINSIC |
low complexity region
|
1928 |
1949 |
N/A |
INTRINSIC |
low complexity region
|
1956 |
1970 |
N/A |
INTRINSIC |
low complexity region
|
1996 |
2022 |
N/A |
INTRINSIC |
low complexity region
|
2140 |
2158 |
N/A |
INTRINSIC |
coiled coil region
|
2323 |
2350 |
N/A |
INTRINSIC |
low complexity region
|
2361 |
2372 |
N/A |
INTRINSIC |
low complexity region
|
2374 |
2398 |
N/A |
INTRINSIC |
low complexity region
|
2466 |
2490 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088646
|
SMART Domains |
Protein: ENSMUSP00000086019 Gene: ENSMUSG00000045962
Domain | Start | End | E-Value | Type |
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
221 |
477 |
1.3e-44 |
PFAM |
Pfam:Pkinase
|
221 |
479 |
4e-58 |
PFAM |
Pfam:OSR1_C
|
500 |
537 |
1.8e-22 |
PFAM |
coiled coil region
|
563 |
597 |
N/A |
INTRINSIC |
low complexity region
|
734 |
746 |
N/A |
INTRINSIC |
low complexity region
|
864 |
874 |
N/A |
INTRINSIC |
low complexity region
|
888 |
904 |
N/A |
INTRINSIC |
internal_repeat_1
|
982 |
1024 |
7.56e-6 |
PROSPERO |
low complexity region
|
1135 |
1151 |
N/A |
INTRINSIC |
low complexity region
|
1191 |
1203 |
N/A |
INTRINSIC |
low complexity region
|
1225 |
1242 |
N/A |
INTRINSIC |
low complexity region
|
1244 |
1274 |
N/A |
INTRINSIC |
low complexity region
|
1275 |
1300 |
N/A |
INTRINSIC |
low complexity region
|
1342 |
1361 |
N/A |
INTRINSIC |
low complexity region
|
1388 |
1402 |
N/A |
INTRINSIC |
low complexity region
|
1432 |
1455 |
N/A |
INTRINSIC |
low complexity region
|
1516 |
1537 |
N/A |
INTRINSIC |
low complexity region
|
1544 |
1558 |
N/A |
INTRINSIC |
low complexity region
|
1584 |
1610 |
N/A |
INTRINSIC |
low complexity region
|
1700 |
1718 |
N/A |
INTRINSIC |
coiled coil region
|
1883 |
1910 |
N/A |
INTRINSIC |
low complexity region
|
1921 |
1932 |
N/A |
INTRINSIC |
low complexity region
|
1934 |
1958 |
N/A |
INTRINSIC |
low complexity region
|
2026 |
2050 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159397
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160686
|
SMART Domains |
Protein: ENSMUSP00000137334 Gene: ENSMUSG00000045962
Domain | Start | End | E-Value | Type |
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
low complexity region
|
119 |
128 |
N/A |
INTRINSIC |
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160769
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161048
|
SMART Domains |
Protein: ENSMUSP00000125345 Gene: ENSMUSG00000045962
Domain | Start | End | E-Value | Type |
Blast:S_TKc
|
2 |
68 |
3e-34 |
BLAST |
SCOP:d1phk__
|
3 |
70 |
2e-7 |
SMART |
Pfam:OSR1_C
|
89 |
126 |
9.5e-21 |
PFAM |
coiled coil region
|
151 |
185 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161512
AA Change: V173A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136086 Gene: ENSMUSG00000045962 AA Change: V173A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
348 |
361 |
N/A |
INTRINSIC |
low complexity region
|
365 |
374 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000177761
AA Change: V961A
|
SMART Domains |
Protein: ENSMUSP00000136777 Gene: ENSMUSG00000045962 AA Change: V961A
Domain | Start | End | E-Value | Type |
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
221 |
477 |
1.7e-44 |
PFAM |
Pfam:Pkinase
|
221 |
479 |
5.1e-58 |
PFAM |
Pfam:OSR1_C
|
500 |
537 |
2.2e-22 |
PFAM |
coiled coil region
|
563 |
597 |
N/A |
INTRINSIC |
low complexity region
|
710 |
722 |
N/A |
INTRINSIC |
low complexity region
|
828 |
839 |
N/A |
INTRINSIC |
low complexity region
|
1005 |
1021 |
N/A |
INTRINSIC |
low complexity region
|
1136 |
1149 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1162 |
N/A |
INTRINSIC |
low complexity region
|
1232 |
1244 |
N/A |
INTRINSIC |
low complexity region
|
1291 |
1307 |
N/A |
INTRINSIC |
internal_repeat_1
|
1385 |
1427 |
1.91e-5 |
PROSPERO |
low complexity region
|
1538 |
1554 |
N/A |
INTRINSIC |
low complexity region
|
1594 |
1606 |
N/A |
INTRINSIC |
low complexity region
|
1628 |
1645 |
N/A |
INTRINSIC |
low complexity region
|
1647 |
1677 |
N/A |
INTRINSIC |
low complexity region
|
1678 |
1703 |
N/A |
INTRINSIC |
low complexity region
|
1745 |
1764 |
N/A |
INTRINSIC |
low complexity region
|
1791 |
1805 |
N/A |
INTRINSIC |
low complexity region
|
1835 |
1858 |
N/A |
INTRINSIC |
low complexity region
|
1919 |
1940 |
N/A |
INTRINSIC |
low complexity region
|
1947 |
1961 |
N/A |
INTRINSIC |
low complexity region
|
1987 |
2013 |
N/A |
INTRINSIC |
low complexity region
|
2131 |
2149 |
N/A |
INTRINSIC |
coiled coil region
|
2314 |
2341 |
N/A |
INTRINSIC |
low complexity region
|
2352 |
2363 |
N/A |
INTRINSIC |
low complexity region
|
2365 |
2389 |
N/A |
INTRINSIC |
low complexity region
|
2457 |
2481 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203030
|
SMART Domains |
Protein: ENSMUSP00000145304 Gene: ENSMUSG00000045962
Domain | Start | End | E-Value | Type |
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
221 |
477 |
4.1e-44 |
PFAM |
Pfam:Pkinase
|
221 |
479 |
3.2e-56 |
PFAM |
Pfam:OSR1_C
|
500 |
537 |
1.5e-22 |
PFAM |
coiled coil region
|
563 |
597 |
N/A |
INTRINSIC |
low complexity region
|
734 |
746 |
N/A |
INTRINSIC |
low complexity region
|
793 |
809 |
N/A |
INTRINSIC |
internal_repeat_1
|
887 |
929 |
5.8e-6 |
PROSPERO |
low complexity region
|
1040 |
1056 |
N/A |
INTRINSIC |
low complexity region
|
1096 |
1108 |
N/A |
INTRINSIC |
low complexity region
|
1130 |
1147 |
N/A |
INTRINSIC |
low complexity region
|
1149 |
1179 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1205 |
N/A |
INTRINSIC |
low complexity region
|
1247 |
1266 |
N/A |
INTRINSIC |
low complexity region
|
1293 |
1307 |
N/A |
INTRINSIC |
low complexity region
|
1337 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1421 |
1442 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1463 |
N/A |
INTRINSIC |
low complexity region
|
1489 |
1515 |
N/A |
INTRINSIC |
low complexity region
|
1633 |
1651 |
N/A |
INTRINSIC |
coiled coil region
|
1816 |
1843 |
N/A |
INTRINSIC |
low complexity region
|
1854 |
1865 |
N/A |
INTRINSIC |
low complexity region
|
1867 |
1891 |
N/A |
INTRINSIC |
low complexity region
|
1959 |
1983 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162368
|
SMART Domains |
Protein: ENSMUSP00000125383 Gene: ENSMUSG00000045962
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
95 |
N/A |
INTRINSIC |
low complexity region
|
142 |
158 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0732 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.6%
|
Validation Efficiency |
99% (97/98) |
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 subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] PHENOTYPE: Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 97 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
A |
5: 121,765,445 (GRCm39) |
K843* |
probably null |
Het |
Adam26b |
T |
C |
8: 43,973,387 (GRCm39) |
I538M |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,150,852 (GRCm39) |
Y337H |
probably damaging |
Het |
Ak7 |
T |
C |
12: 105,682,307 (GRCm39) |
M156T |
probably damaging |
Het |
Aldh3a1 |
A |
G |
11: 61,106,338 (GRCm39) |
M238V |
probably benign |
Het |
Asic4 |
T |
A |
1: 75,450,155 (GRCm39) |
|
probably benign |
Het |
AW551984 |
A |
G |
9: 39,511,937 (GRCm39) |
S25P |
probably damaging |
Het |
Bbs7 |
T |
A |
3: 36,661,818 (GRCm39) |
Y127F |
possibly damaging |
Het |
Bco1 |
G |
A |
8: 117,835,516 (GRCm39) |
E156K |
possibly damaging |
Het |
Becn1 |
T |
C |
11: 101,181,275 (GRCm39) |
D342G |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,956,749 (GRCm39) |
I3575N |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,731,068 (GRCm39) |
Y715C |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,860,636 (GRCm39) |
M522L |
probably benign |
Het |
Cerkl |
A |
G |
2: 79,172,795 (GRCm39) |
F293L |
probably benign |
Het |
Chil3 |
T |
G |
3: 106,056,221 (GRCm39) |
N311T |
probably benign |
Het |
Cpeb2 |
T |
A |
5: 43,443,056 (GRCm39) |
|
probably benign |
Het |
Cpxm2 |
A |
G |
7: 131,730,134 (GRCm39) |
S162P |
probably damaging |
Het |
Cracr2b |
A |
C |
7: 141,044,176 (GRCm39) |
E136A |
probably damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,012,258 (GRCm39) |
M347K |
probably benign |
Het |
Dicer1 |
C |
A |
12: 104,668,889 (GRCm39) |
R1264S |
probably benign |
Het |
Dlgap1 |
T |
A |
17: 71,068,341 (GRCm39) |
N609K |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,323,651 (GRCm39) |
T641A |
probably benign |
Het |
Egfl8 |
T |
C |
17: 34,833,856 (GRCm39) |
Y74C |
probably damaging |
Het |
Esyt1 |
A |
G |
10: 128,348,078 (GRCm39) |
S901P |
probably benign |
Het |
Fam83e |
A |
T |
7: 45,373,372 (GRCm39) |
D246V |
probably damaging |
Het |
Galnt2 |
T |
C |
8: 125,065,323 (GRCm39) |
|
probably benign |
Het |
Hdc |
A |
G |
2: 126,436,871 (GRCm39) |
|
probably benign |
Het |
Herc1 |
A |
C |
9: 66,307,054 (GRCm39) |
Q958P |
probably benign |
Het |
Iqcg |
T |
A |
16: 32,870,213 (GRCm39) |
|
probably benign |
Het |
Iqub |
A |
T |
6: 24,450,829 (GRCm39) |
F590Y |
probably damaging |
Het |
Jak2 |
T |
C |
19: 29,289,238 (GRCm39) |
I1130T |
probably benign |
Het |
Kbtbd11 |
G |
A |
8: 15,077,499 (GRCm39) |
A33T |
probably benign |
Het |
Kcnip4 |
A |
G |
5: 48,667,054 (GRCm39) |
L37P |
probably damaging |
Het |
Klk6 |
A |
G |
7: 43,477,963 (GRCm39) |
N112D |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,559,745 (GRCm39) |
T1011I |
probably damaging |
Het |
Knl1 |
A |
T |
2: 118,898,869 (GRCm39) |
K190M |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,598,535 (GRCm39) |
S981T |
possibly damaging |
Het |
Lrrc18 |
T |
C |
14: 32,730,608 (GRCm39) |
L49P |
probably damaging |
Het |
Lrrc31 |
T |
C |
3: 30,741,674 (GRCm39) |
E245G |
probably damaging |
Het |
Lypd10 |
T |
A |
7: 24,413,712 (GRCm39) |
S243T |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,338,737 (GRCm39) |
I2456M |
probably benign |
Het |
Mcm6 |
T |
A |
1: 128,261,292 (GRCm39) |
T771S |
probably benign |
Het |
Met |
A |
C |
6: 17,534,197 (GRCm39) |
Y680S |
possibly damaging |
Het |
Mixl1 |
T |
A |
1: 180,524,211 (GRCm39) |
T123S |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,183,731 (GRCm39) |
I787F |
probably benign |
Het |
Myocd |
A |
G |
11: 65,087,051 (GRCm39) |
F292S |
probably damaging |
Het |
Neb |
T |
C |
2: 52,203,902 (GRCm39) |
|
probably null |
Het |
Nfe2l1 |
A |
G |
11: 96,718,194 (GRCm39) |
S114P |
probably damaging |
Het |
Nrxn2 |
T |
C |
19: 6,541,551 (GRCm39) |
S986P |
probably damaging |
Het |
Oprl1 |
T |
C |
2: 181,360,527 (GRCm39) |
|
probably null |
Het |
Or11h6 |
T |
C |
14: 50,880,461 (GRCm39) |
V241A |
possibly damaging |
Het |
Or4a73 |
A |
T |
2: 89,421,095 (GRCm39) |
Y121* |
probably null |
Het |
Or5b101 |
T |
G |
19: 13,005,295 (GRCm39) |
T133P |
probably damaging |
Het |
Or6c8 |
A |
G |
10: 128,915,640 (GRCm39) |
F64S |
probably damaging |
Het |
Or8b53 |
G |
A |
9: 38,667,425 (GRCm39) |
G147D |
probably damaging |
Het |
Or8c9 |
A |
T |
9: 38,241,467 (GRCm39) |
T195S |
probably benign |
Het |
Panx2 |
T |
A |
15: 88,952,610 (GRCm39) |
I359N |
probably damaging |
Het |
Pik3c2b |
T |
A |
1: 133,005,134 (GRCm39) |
V545E |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,638,748 (GRCm39) |
N259S |
probably benign |
Het |
Plcxd2 |
A |
T |
16: 45,800,919 (GRCm39) |
F102I |
probably damaging |
Het |
Pld5 |
A |
T |
1: 175,917,522 (GRCm39) |
M75K |
possibly damaging |
Het |
Pmp22 |
T |
A |
11: 63,041,929 (GRCm39) |
|
probably benign |
Het |
Polr2a |
A |
G |
11: 69,631,845 (GRCm39) |
S1074P |
possibly damaging |
Het |
Pop1 |
T |
A |
15: 34,526,352 (GRCm39) |
V649E |
possibly damaging |
Het |
Prc1 |
A |
G |
7: 79,962,850 (GRCm39) |
N548S |
probably damaging |
Het |
Prss51 |
T |
C |
14: 64,334,588 (GRCm39) |
L202P |
probably damaging |
Het |
Rhpn1 |
T |
C |
15: 75,585,428 (GRCm39) |
S576P |
possibly damaging |
Het |
Rictor |
A |
G |
15: 6,738,123 (GRCm39) |
D20G |
probably benign |
Het |
Rpl13a-ps1 |
A |
T |
19: 50,018,645 (GRCm39) |
L177* |
probably null |
Het |
Rpl23a-ps1 |
T |
G |
1: 46,021,087 (GRCm39) |
|
noncoding transcript |
Het |
Saa2 |
A |
G |
7: 46,402,902 (GRCm39) |
D51G |
probably damaging |
Het |
Sec31a |
A |
T |
5: 100,551,977 (GRCm39) |
|
probably benign |
Het |
Secisbp2 |
G |
A |
13: 51,837,361 (GRCm39) |
E841K |
possibly damaging |
Het |
Serinc1 |
A |
G |
10: 57,393,306 (GRCm39) |
Y437H |
probably damaging |
Het |
Slc39a12 |
A |
T |
2: 14,440,492 (GRCm39) |
H481L |
probably benign |
Het |
Suz12 |
T |
A |
11: 79,920,859 (GRCm39) |
N586K |
probably damaging |
Het |
Synm |
T |
C |
7: 67,386,630 (GRCm39) |
Y344C |
possibly damaging |
Het |
Tas2r104 |
A |
G |
6: 131,662,304 (GRCm39) |
V135A |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 112,034,673 (GRCm39) |
S1371P |
probably benign |
Het |
Tg |
T |
A |
15: 66,700,382 (GRCm39) |
D893E |
probably benign |
Het |
Thoc5 |
C |
A |
11: 4,868,217 (GRCm39) |
D423E |
possibly damaging |
Het |
Trim11 |
G |
A |
11: 58,881,361 (GRCm39) |
R418H |
probably damaging |
Het |
Trim52 |
T |
G |
14: 106,344,399 (GRCm39) |
V19G |
probably damaging |
Het |
Tuba4a |
C |
A |
1: 75,192,502 (GRCm39) |
V371L |
probably damaging |
Het |
Ugt8a |
A |
G |
3: 125,708,606 (GRCm39) |
V168A |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,938,951 (GRCm39) |
G496R |
probably damaging |
Het |
Usp40 |
A |
G |
1: 87,874,320 (GRCm39) |
*1236Q |
probably null |
Het |
Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
Vmn2r24 |
A |
G |
6: 123,757,350 (GRCm39) |
|
probably null |
Het |
Vmn2r53 |
A |
G |
7: 12,316,338 (GRCm39) |
Y494H |
probably damaging |
Het |
Vmn2r65 |
T |
A |
7: 84,595,442 (GRCm39) |
D414V |
probably benign |
Het |
Wdr26 |
A |
T |
1: 181,010,444 (GRCm39) |
L519* |
probably null |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp318 |
T |
C |
17: 46,707,634 (GRCm39) |
S231P |
probably damaging |
Het |
Zfp398 |
T |
C |
6: 47,842,782 (GRCm39) |
V146A |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,378,486 (GRCm39) |
M270T |
probably damaging |
Het |
Zfp445 |
A |
T |
9: 122,682,578 (GRCm39) |
H454Q |
possibly damaging |
Het |
|
Other mutations in Wnk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00901:Wnk1
|
APN |
6 |
119,937,669 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01364:Wnk1
|
APN |
6 |
119,914,372 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01715:Wnk1
|
APN |
6 |
119,925,358 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01951:Wnk1
|
APN |
6 |
119,940,446 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02043:Wnk1
|
APN |
6 |
119,926,039 (GRCm39) |
unclassified |
probably benign |
|
IGL02268:Wnk1
|
APN |
6 |
119,914,334 (GRCm39) |
nonsense |
probably null |
|
IGL02348:Wnk1
|
APN |
6 |
119,940,289 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02425:Wnk1
|
APN |
6 |
119,940,415 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02850:Wnk1
|
APN |
6 |
119,914,823 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03160:Wnk1
|
APN |
6 |
119,903,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03387:Wnk1
|
APN |
6 |
119,931,148 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03405:Wnk1
|
APN |
6 |
119,930,856 (GRCm39) |
missense |
probably benign |
0.41 |
Actor
|
UTSW |
6 |
119,947,939 (GRCm39) |
missense |
probably damaging |
1.00 |
Bad
|
UTSW |
6 |
119,942,639 (GRCm39) |
intron |
probably benign |
|
Blink
|
UTSW |
6 |
119,979,234 (GRCm39) |
nonsense |
probably null |
|
Knock
|
UTSW |
6 |
119,920,839 (GRCm39) |
splice site |
probably null |
|
Narrow
|
UTSW |
6 |
119,969,369 (GRCm39) |
missense |
probably damaging |
1.00 |
nictitate
|
UTSW |
6 |
119,979,241 (GRCm39) |
missense |
possibly damaging |
0.88 |
opportunity
|
UTSW |
6 |
119,928,029 (GRCm39) |
missense |
probably damaging |
1.00 |
path
|
UTSW |
6 |
120,014,110 (GRCm39) |
missense |
probably damaging |
0.99 |
Stormy
|
UTSW |
6 |
119,969,408 (GRCm39) |
missense |
probably damaging |
1.00 |
tear
|
UTSW |
6 |
119,940,431 (GRCm39) |
missense |
probably damaging |
0.98 |
Tic
|
UTSW |
6 |
119,927,044 (GRCm39) |
missense |
probably damaging |
1.00 |
Unforgiving
|
UTSW |
6 |
119,925,243 (GRCm39) |
missense |
probably damaging |
1.00 |
Window
|
UTSW |
6 |
119,969,414 (GRCm39) |
missense |
probably damaging |
1.00 |
Woke
|
UTSW |
6 |
119,939,916 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03052:Wnk1
|
UTSW |
6 |
119,921,760 (GRCm39) |
splice site |
probably benign |
|
PIT4480001:Wnk1
|
UTSW |
6 |
119,940,328 (GRCm39) |
nonsense |
probably null |
|
R0044:Wnk1
|
UTSW |
6 |
120,014,110 (GRCm39) |
missense |
probably damaging |
0.99 |
R0207:Wnk1
|
UTSW |
6 |
119,929,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R0333:Wnk1
|
UTSW |
6 |
119,905,124 (GRCm39) |
intron |
probably benign |
|
R0457:Wnk1
|
UTSW |
6 |
119,946,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0501:Wnk1
|
UTSW |
6 |
119,939,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R0525:Wnk1
|
UTSW |
6 |
119,903,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R0526:Wnk1
|
UTSW |
6 |
119,928,953 (GRCm39) |
missense |
probably damaging |
0.99 |
R0606:Wnk1
|
UTSW |
6 |
119,903,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R0658:Wnk1
|
UTSW |
6 |
119,925,466 (GRCm39) |
missense |
probably damaging |
0.98 |
R1148:Wnk1
|
UTSW |
6 |
119,928,967 (GRCm39) |
splice site |
probably benign |
|
R1188:Wnk1
|
UTSW |
6 |
119,925,670 (GRCm39) |
nonsense |
probably null |
|
R1245:Wnk1
|
UTSW |
6 |
119,925,418 (GRCm39) |
missense |
probably benign |
0.26 |
R1449:Wnk1
|
UTSW |
6 |
119,929,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Wnk1
|
UTSW |
6 |
119,927,645 (GRCm39) |
splice site |
probably benign |
|
R1869:Wnk1
|
UTSW |
6 |
119,928,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R1871:Wnk1
|
UTSW |
6 |
119,928,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:Wnk1
|
UTSW |
6 |
119,929,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Wnk1
|
UTSW |
6 |
119,946,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R1961:Wnk1
|
UTSW |
6 |
119,946,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R1964:Wnk1
|
UTSW |
6 |
119,911,343 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1983:Wnk1
|
UTSW |
6 |
119,914,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R2062:Wnk1
|
UTSW |
6 |
119,905,118 (GRCm39) |
splice site |
probably null |
|
R2144:Wnk1
|
UTSW |
6 |
119,925,949 (GRCm39) |
unclassified |
probably benign |
|
R2186:Wnk1
|
UTSW |
6 |
119,925,528 (GRCm39) |
missense |
probably benign |
0.26 |
R2281:Wnk1
|
UTSW |
6 |
119,940,601 (GRCm39) |
splice site |
probably null |
|
R2338:Wnk1
|
UTSW |
6 |
119,946,495 (GRCm39) |
missense |
probably benign |
0.42 |
R2420:Wnk1
|
UTSW |
6 |
119,913,328 (GRCm39) |
critical splice donor site |
probably null |
|
R3727:Wnk1
|
UTSW |
6 |
119,969,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R3773:Wnk1
|
UTSW |
6 |
119,979,241 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3836:Wnk1
|
UTSW |
6 |
119,927,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R3837:Wnk1
|
UTSW |
6 |
119,927,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Wnk1
|
UTSW |
6 |
119,946,315 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3903:Wnk1
|
UTSW |
6 |
119,926,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R4031:Wnk1
|
UTSW |
6 |
119,928,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R4095:Wnk1
|
UTSW |
6 |
119,925,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R4232:Wnk1
|
UTSW |
6 |
119,926,222 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4422:Wnk1
|
UTSW |
6 |
119,930,856 (GRCm39) |
missense |
probably benign |
0.41 |
R4423:Wnk1
|
UTSW |
6 |
119,903,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Wnk1
|
UTSW |
6 |
119,928,872 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4704:Wnk1
|
UTSW |
6 |
119,942,705 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4755:Wnk1
|
UTSW |
6 |
119,940,431 (GRCm39) |
missense |
probably damaging |
0.98 |
R4812:Wnk1
|
UTSW |
6 |
119,929,732 (GRCm39) |
missense |
probably benign |
0.16 |
R4822:Wnk1
|
UTSW |
6 |
119,939,399 (GRCm39) |
missense |
probably benign |
0.02 |
R4879:Wnk1
|
UTSW |
6 |
119,926,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R4970:Wnk1
|
UTSW |
6 |
119,942,696 (GRCm39) |
intron |
probably benign |
|
R5002:Wnk1
|
UTSW |
6 |
119,914,924 (GRCm39) |
missense |
probably benign |
0.13 |
R5037:Wnk1
|
UTSW |
6 |
119,942,696 (GRCm39) |
intron |
probably benign |
|
R5152:Wnk1
|
UTSW |
6 |
119,979,241 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5257:Wnk1
|
UTSW |
6 |
120,014,149 (GRCm39) |
missense |
probably benign |
0.00 |
R5354:Wnk1
|
UTSW |
6 |
119,945,484 (GRCm39) |
missense |
probably benign |
0.01 |
R5421:Wnk1
|
UTSW |
6 |
119,929,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R5564:Wnk1
|
UTSW |
6 |
119,925,852 (GRCm39) |
unclassified |
probably benign |
|
R5600:Wnk1
|
UTSW |
6 |
119,926,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5847:Wnk1
|
UTSW |
6 |
119,969,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R6083:Wnk1
|
UTSW |
6 |
120,014,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R6110:Wnk1
|
UTSW |
6 |
119,949,958 (GRCm39) |
intron |
probably benign |
|
R6128:Wnk1
|
UTSW |
6 |
119,940,747 (GRCm39) |
splice site |
probably null |
|
R6237:Wnk1
|
UTSW |
6 |
119,929,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R6341:Wnk1
|
UTSW |
6 |
119,925,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Wnk1
|
UTSW |
6 |
119,939,916 (GRCm39) |
missense |
probably benign |
0.12 |
R6696:Wnk1
|
UTSW |
6 |
119,925,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R6888:Wnk1
|
UTSW |
6 |
119,925,742 (GRCm39) |
missense |
probably benign |
0.26 |
R6923:Wnk1
|
UTSW |
6 |
119,942,639 (GRCm39) |
intron |
probably benign |
|
R7024:Wnk1
|
UTSW |
6 |
119,942,687 (GRCm39) |
intron |
probably benign |
|
R7072:Wnk1
|
UTSW |
6 |
119,914,822 (GRCm39) |
missense |
unknown |
|
R7087:Wnk1
|
UTSW |
6 |
120,014,491 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7102:Wnk1
|
UTSW |
6 |
119,925,268 (GRCm39) |
missense |
unknown |
|
R7134:Wnk1
|
UTSW |
6 |
119,903,389 (GRCm39) |
missense |
unknown |
|
R7137:Wnk1
|
UTSW |
6 |
120,015,173 (GRCm39) |
unclassified |
probably benign |
|
R7142:Wnk1
|
UTSW |
6 |
119,926,240 (GRCm39) |
missense |
probably benign |
0.09 |
R7174:Wnk1
|
UTSW |
6 |
119,947,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Wnk1
|
UTSW |
6 |
119,920,839 (GRCm39) |
splice site |
probably null |
|
R7218:Wnk1
|
UTSW |
6 |
119,979,234 (GRCm39) |
nonsense |
probably null |
|
R7498:Wnk1
|
UTSW |
6 |
119,904,157 (GRCm39) |
missense |
unknown |
|
R7599:Wnk1
|
UTSW |
6 |
119,906,789 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7615:Wnk1
|
UTSW |
6 |
119,909,699 (GRCm39) |
missense |
probably benign |
0.27 |
R7799:Wnk1
|
UTSW |
6 |
119,926,137 (GRCm39) |
missense |
probably benign |
0.04 |
R7979:Wnk1
|
UTSW |
6 |
120,014,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R8075:Wnk1
|
UTSW |
6 |
119,909,675 (GRCm39) |
missense |
probably damaging |
0.99 |
R8331:Wnk1
|
UTSW |
6 |
119,930,794 (GRCm39) |
missense |
probably benign |
0.09 |
R8343:Wnk1
|
UTSW |
6 |
119,940,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R8348:Wnk1
|
UTSW |
6 |
119,906,960 (GRCm39) |
splice site |
probably null |
|
R8359:Wnk1
|
UTSW |
6 |
119,969,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8424:Wnk1
|
UTSW |
6 |
119,911,388 (GRCm39) |
missense |
unknown |
|
R8519:Wnk1
|
UTSW |
6 |
119,927,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R8930:Wnk1
|
UTSW |
6 |
119,940,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R8932:Wnk1
|
UTSW |
6 |
119,940,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R8933:Wnk1
|
UTSW |
6 |
120,013,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Wnk1
|
UTSW |
6 |
119,939,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R9147:Wnk1
|
UTSW |
6 |
119,925,631 (GRCm39) |
missense |
unknown |
|
R9148:Wnk1
|
UTSW |
6 |
119,925,631 (GRCm39) |
missense |
unknown |
|
R9354:Wnk1
|
UTSW |
6 |
119,942,660 (GRCm39) |
missense |
unknown |
|
R9379:Wnk1
|
UTSW |
6 |
119,928,678 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Wnk1
|
UTSW |
6 |
120,013,993 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1177:Wnk1
|
UTSW |
6 |
119,925,166 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAGTCCACTGCAACCTGCC -3'
(R):5'- TCCAACCTGTGTTTGAGCCAACCC -3'
Sequencing Primer
(F):5'- TGCCGATTTCGGTAAACACG -3'
(R):5'- GTGTTTGAGCCAACCCAGATTTAC -3'
|
Posted On |
2013-05-23 |