Incidental Mutation 'R7615:Wnk1'
| ID |
588835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnk1
|
| Ensembl Gene |
ENSMUSG00000045962 |
| Gene Name |
WNK lysine deficient protein kinase 1 |
| Synonyms |
6430573H23Rik, Hsn2, EG406236, Prkwnk1 |
| MMRRC Submission |
045683-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7615 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119923969-120038672 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119932738 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 33
(S33T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060043]
[ENSMUST00000088644]
[ENSMUST00000088646]
[ENSMUST00000161243]
[ENSMUST00000162190]
[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 |
probably benign
Transcript: ENSMUST00000088644
|
| SMART Domains |
Protein: ENSMUSP00000086017
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 |
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 |
probably benign
Transcript: ENSMUST00000160493
|
| SMART Domains |
Protein: ENSMUSP00000124377
Gene: ENSMUSG00000045962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161243
|
| SMART Domains |
Protein: ENSMUSP00000124050
Gene: ENSMUSG00000045962
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
86 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161802
|
| SMART Domains |
Protein: ENSMUSP00000124724
Gene: ENSMUSG00000045962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162190
AA Change: S33T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162541
|
| SMART Domains |
Protein: ENSMUSP00000125193
Gene: ENSMUSG00000045962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177761
|
| SMART Domains |
Protein: ENSMUSP00000136777
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 |
1.7e-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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (101/101) |
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,497,849 (GRCm38) |
I320V |
possibly damaging |
Het |
| Adat2 |
A |
G |
10: 13,553,276 (GRCm38) |
K4R |
probably benign |
Het |
| Adgb |
G |
A |
10: 10,436,010 (GRCm38) |
L226F |
probably damaging |
Het |
| Adgrb3 |
C |
T |
1: 25,098,897 (GRCm38) |
V1192I |
probably damaging |
Het |
| Ahsa2 |
T |
A |
11: 23,496,750 (GRCm38) |
N71I |
possibly damaging |
Het |
| Amigo2 |
T |
G |
15: 97,245,342 (GRCm38) |
T400P |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,656,773 (GRCm38) |
Q466L |
|
Het |
| Auh |
T |
C |
13: 52,919,013 (GRCm38) |
I111V |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 96,033,839 (GRCm38) |
F942L |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,616,144 (GRCm38) |
N262D |
probably damaging |
Het |
| Cdh9 |
T |
A |
15: 16,856,230 (GRCm38) |
S785R |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,837,652 (GRCm38) |
T2046A |
possibly damaging |
Het |
| Cep170b |
T |
C |
12: 112,744,665 (GRCm38) |
V1493A |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,492,681 (GRCm38) |
R111W |
probably benign |
Het |
| Chd2 |
T |
A |
7: 73,441,642 (GRCm38) |
H1617L |
probably damaging |
Het |
| Ciao3 |
C |
T |
17: 25,782,129 (GRCm38) |
P452S |
probably benign |
Het |
| Clnk |
T |
C |
5: 38,706,698 (GRCm38) |
D404G |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 77,067,005 (GRCm38) |
G795D |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 126,037,656 (GRCm38) |
Y477* |
probably null |
Het |
| Dnah17 |
T |
A |
11: 118,110,547 (GRCm38) |
K857* |
probably null |
Het |
| Dnah2 |
T |
G |
11: 69,435,304 (GRCm38) |
I3674L |
probably damaging |
Het |
| Dnah6 |
A |
C |
6: 73,095,206 (GRCm38) |
I2431S |
possibly damaging |
Het |
| Eml6 |
T |
A |
11: 29,802,501 (GRCm38) |
I971F |
possibly damaging |
Het |
| Fam135b |
A |
T |
15: 71,463,323 (GRCm38) |
I674N |
probably damaging |
Het |
| Fancc |
T |
A |
13: 63,317,558 (GRCm38) |
|
probably null |
Het |
| Gabrb2 |
A |
C |
11: 42,626,742 (GRCm38) |
K464Q |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,122,982 (GRCm38) |
D261V |
possibly damaging |
Het |
| Gdf3 |
A |
G |
6: 122,606,916 (GRCm38) |
V164A |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 35,796,359 (GRCm38) |
D978G |
probably damaging |
Het |
| Gm20730 |
C |
T |
6: 43,081,774 (GRCm38) |
G35R |
probably null |
Het |
| Grin2b |
G |
A |
6: 135,923,364 (GRCm38) |
T173I |
probably damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,423,572 (GRCm38) |
V344E |
possibly damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,630,104 (GRCm38) |
I32T |
probably damaging |
Het |
| Ido1 |
G |
C |
8: 24,593,188 (GRCm38) |
L74V |
probably damaging |
Het |
| Igkv1-88 |
T |
A |
6: 68,862,373 (GRCm38) |
D85V |
probably damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,737,459 (GRCm38) |
I159V |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,751,346 (GRCm38) |
V531A |
probably benign |
Het |
| Iqgap1 |
A |
T |
7: 80,730,100 (GRCm38) |
F1175Y |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 114,996,922 (GRCm38) |
Q484L |
probably null |
Het |
| Itga11 |
A |
T |
9: 62,744,018 (GRCm38) |
E281V |
probably benign |
Het |
| Kpna3 |
T |
C |
14: 61,372,962 (GRCm38) |
N343S |
possibly damaging |
Het |
| Larp1b |
A |
G |
3: 41,033,534 (GRCm38) |
K64E |
possibly damaging |
Het |
| Larp1b |
A |
G |
3: 41,035,816 (GRCm38) |
N133S |
probably benign |
Het |
| Lctl |
T |
A |
9: 64,122,110 (GRCm38) |
L161H |
probably damaging |
Het |
| Mlip |
A |
G |
9: 77,230,483 (GRCm38) |
S381P |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 163,046,032 (GRCm38) |
I518T |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,920,012 (GRCm38) |
Q1360R |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,864,892 (GRCm38) |
C3858* |
probably null |
Het |
| Naip1 |
A |
T |
13: 100,425,776 (GRCm38) |
H960Q |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,884,503 (GRCm38) |
S1321T |
probably benign |
Het |
| Nid2 |
C |
A |
14: 19,802,530 (GRCm38) |
T1102K |
probably damaging |
Het |
| Nsmaf |
C |
T |
4: 6,408,563 (GRCm38) |
V739M |
probably damaging |
Het |
| Or1o2 |
T |
G |
17: 37,231,450 (GRCm38) |
K307Q |
probably benign |
Het |
| Or4k15 |
T |
G |
14: 50,126,989 (GRCm38) |
S137R |
probably benign |
Het |
| Or5ar1 |
T |
A |
2: 85,841,657 (GRCm38) |
M45L |
probably benign |
Het |
| Or5b110-ps1 |
A |
G |
19: 13,282,590 (GRCm38) |
I156T |
probably damaging |
Het |
| Or5d39 |
T |
C |
2: 88,149,518 (GRCm38) |
Q167R |
probably benign |
Het |
| Osbpl9 |
G |
A |
4: 109,086,339 (GRCm38) |
P159S |
probably damaging |
Het |
| Parpbp |
A |
G |
10: 88,093,637 (GRCm38) |
S450P |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,064,046 (GRCm38) |
T185A |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,593,502 (GRCm38) |
V3803A |
probably damaging |
Het |
| Plau |
A |
T |
14: 20,839,466 (GRCm38) |
K200* |
probably null |
Het |
| Plce1 |
A |
T |
19: 38,524,665 (GRCm38) |
Q136L |
probably benign |
Het |
| Plekhd1 |
C |
T |
12: 80,722,445 (GRCm38) |
T493I |
probably benign |
Het |
| Pofut1 |
T |
C |
2: 153,259,418 (GRCm38) |
S31P |
unknown |
Het |
| Prlr |
T |
A |
15: 10,325,924 (GRCm38) |
I243N |
probably damaging |
Het |
| Ptgis |
A |
G |
2: 167,223,988 (GRCm38) |
L174P |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,450,270 (GRCm38) |
I792K |
probably damaging |
Het |
| Retreg3 |
C |
T |
11: 101,102,980 (GRCm38) |
S136N |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,229,653 (GRCm38) |
I89F |
possibly damaging |
Het |
| Rnf213 |
C |
T |
11: 119,467,297 (GRCm38) |
T4291M |
|
Het |
| Rtn1 |
A |
G |
12: 72,304,143 (GRCm38) |
Y431H |
probably damaging |
Het |
| Rwdd3 |
A |
G |
3: 121,171,604 (GRCm38) |
|
probably benign |
Het |
| Scyl3 |
A |
T |
1: 163,950,338 (GRCm38) |
|
probably null |
Het |
| Sh2b2 |
G |
T |
5: 136,219,657 (GRCm38) |
Q510K |
probably damaging |
Het |
| Sh2b3 |
G |
A |
5: 121,818,700 (GRCm38) |
P333S |
probably benign |
Het |
| Sirpd |
A |
G |
3: 15,320,485 (GRCm38) |
V119A |
probably damaging |
Het |
| Slc27a6 |
A |
T |
18: 58,609,183 (GRCm38) |
N490Y |
probably damaging |
Het |
| Slc45a1 |
C |
T |
4: 150,638,545 (GRCm38) |
R294Q |
probably benign |
Het |
| Sorl1 |
A |
C |
9: 41,977,582 (GRCm38) |
I1974S |
possibly damaging |
Het |
| Specc1l |
C |
A |
10: 75,263,286 (GRCm38) |
N857K |
probably benign |
Het |
| Speg |
T |
C |
1: 75,429,242 (GRCm38) |
L3030P |
probably damaging |
Het |
| Spsb1 |
A |
C |
4: 149,906,900 (GRCm38) |
D70E |
probably benign |
Het |
| Srsf11 |
A |
G |
3: 158,016,425 (GRCm38) |
S270P |
unknown |
Het |
| Ssr3 |
A |
C |
3: 65,387,792 (GRCm38) |
V100G |
probably damaging |
Het |
| Synpo |
G |
A |
18: 60,604,475 (GRCm38) |
T133I |
probably damaging |
Het |
| Tas2r120 |
T |
G |
6: 132,657,810 (GRCm38) |
V285G |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,845,926 (GRCm38) |
V1187D |
probably damaging |
Het |
| Tmed8 |
C |
A |
12: 87,181,388 (GRCm38) |
|
probably null |
Het |
| Tmem51 |
G |
A |
4: 142,037,564 (GRCm38) |
T61M |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,630,607 (GRCm38) |
D1132E |
probably benign |
Het |
| Tor1aip1 |
C |
T |
1: 156,007,584 (GRCm38) |
V358I |
possibly damaging |
Het |
| Txlna |
A |
T |
4: 129,630,319 (GRCm38) |
M415K |
probably damaging |
Het |
| Tyms |
T |
A |
5: 30,073,560 (GRCm38) |
|
probably benign |
Het |
| Uggt2 |
G |
T |
14: 119,089,269 (GRCm38) |
L177I |
probably benign |
Het |
| Uqcrh |
T |
C |
4: 116,069,879 (GRCm38) |
H74R |
probably benign |
Het |
| Zfp553 |
T |
A |
7: 127,236,016 (GRCm38) |
C248S |
probably damaging |
Het |
| Zfp574 |
G |
A |
7: 25,080,576 (GRCm38) |
C341Y |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,591,498 (GRCm38) |
T883A |
possibly damaging |
Het |
| Zfp738 |
T |
A |
13: 67,670,203 (GRCm38) |
K556N |
probably damaging |
Het |
|
| Other mutations in Wnk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Wnk1
|
APN |
6 |
119,960,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01364:Wnk1
|
APN |
6 |
119,937,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01715:Wnk1
|
APN |
6 |
119,948,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01951:Wnk1
|
APN |
6 |
119,963,485 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02043:Wnk1
|
APN |
6 |
119,949,078 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02268:Wnk1
|
APN |
6 |
119,937,373 (GRCm38) |
nonsense |
probably null |
|
|
IGL02348:Wnk1
|
APN |
6 |
119,963,328 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02425:Wnk1
|
APN |
6 |
119,963,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02850:Wnk1
|
APN |
6 |
119,937,862 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL03160:Wnk1
|
APN |
6 |
119,926,633 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03387:Wnk1
|
APN |
6 |
119,954,187 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL03405:Wnk1
|
APN |
6 |
119,953,895 (GRCm38) |
missense |
probably benign |
0.41 |
|
Actor
|
UTSW |
6 |
119,970,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Bad
|
UTSW |
6 |
119,965,678 (GRCm38) |
intron |
probably benign |
|
|
Blink
|
UTSW |
6 |
120,002,273 (GRCm38) |
nonsense |
probably null |
|
|
Knock
|
UTSW |
6 |
119,943,878 (GRCm38) |
splice site |
probably null |
|
|
Narrow
|
UTSW |
6 |
119,992,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
nictitate
|
UTSW |
6 |
120,002,280 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
opportunity
|
UTSW |
6 |
119,951,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
path
|
UTSW |
6 |
120,037,149 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Stormy
|
UTSW |
6 |
119,992,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tear
|
UTSW |
6 |
119,963,470 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Tic
|
UTSW |
6 |
119,950,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Unforgiving
|
UTSW |
6 |
119,948,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Window
|
UTSW |
6 |
119,992,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Woke
|
UTSW |
6 |
119,962,955 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL03052:Wnk1
|
UTSW |
6 |
119,944,799 (GRCm38) |
splice site |
probably benign |
|
|
PIT4480001:Wnk1
|
UTSW |
6 |
119,963,367 (GRCm38) |
nonsense |
probably null |
|
|
R0044:Wnk1
|
UTSW |
6 |
120,037,149 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0207:Wnk1
|
UTSW |
6 |
119,952,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0333:Wnk1
|
UTSW |
6 |
119,928,163 (GRCm38) |
intron |
probably benign |
|
|
R0453:Wnk1
|
UTSW |
6 |
119,963,151 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0457:Wnk1
|
UTSW |
6 |
119,969,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0501:Wnk1
|
UTSW |
6 |
119,962,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0525:Wnk1
|
UTSW |
6 |
119,926,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0526:Wnk1
|
UTSW |
6 |
119,951,992 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0606:Wnk1
|
UTSW |
6 |
119,926,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0658:Wnk1
|
UTSW |
6 |
119,948,505 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1148:Wnk1
|
UTSW |
6 |
119,952,006 (GRCm38) |
splice site |
probably benign |
|
|
R1188:Wnk1
|
UTSW |
6 |
119,948,709 (GRCm38) |
nonsense |
probably null |
|
|
R1245:Wnk1
|
UTSW |
6 |
119,948,457 (GRCm38) |
missense |
probably benign |
0.26 |
|
R1449:Wnk1
|
UTSW |
6 |
119,952,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1469:Wnk1
|
UTSW |
6 |
119,950,684 (GRCm38) |
splice site |
probably benign |
|
|
R1869:Wnk1
|
UTSW |
6 |
119,951,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1871:Wnk1
|
UTSW |
6 |
119,951,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1928:Wnk1
|
UTSW |
6 |
119,952,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1959:Wnk1
|
UTSW |
6 |
119,969,247 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1961:Wnk1
|
UTSW |
6 |
119,969,247 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1964:Wnk1
|
UTSW |
6 |
119,934,382 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1983:Wnk1
|
UTSW |
6 |
119,937,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2062:Wnk1
|
UTSW |
6 |
119,928,157 (GRCm38) |
splice site |
probably null |
|
|
R2144:Wnk1
|
UTSW |
6 |
119,948,988 (GRCm38) |
unclassified |
probably benign |
|
|
R2186:Wnk1
|
UTSW |
6 |
119,948,567 (GRCm38) |
missense |
probably benign |
0.26 |
|
R2281:Wnk1
|
UTSW |
6 |
119,963,640 (GRCm38) |
splice site |
probably null |
|
|
R2338:Wnk1
|
UTSW |
6 |
119,969,534 (GRCm38) |
missense |
probably benign |
0.42 |
|
R2420:Wnk1
|
UTSW |
6 |
119,936,367 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3727:Wnk1
|
UTSW |
6 |
119,992,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3773:Wnk1
|
UTSW |
6 |
120,002,280 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3836:Wnk1
|
UTSW |
6 |
119,950,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3837:Wnk1
|
UTSW |
6 |
119,950,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3847:Wnk1
|
UTSW |
6 |
119,969,354 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R3903:Wnk1
|
UTSW |
6 |
119,949,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4031:Wnk1
|
UTSW |
6 |
119,951,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4095:Wnk1
|
UTSW |
6 |
119,948,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4232:Wnk1
|
UTSW |
6 |
119,949,261 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4422:Wnk1
|
UTSW |
6 |
119,953,895 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4423:Wnk1
|
UTSW |
6 |
119,926,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4572:Wnk1
|
UTSW |
6 |
119,951,911 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4704:Wnk1
|
UTSW |
6 |
119,965,744 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4755:Wnk1
|
UTSW |
6 |
119,963,470 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4812:Wnk1
|
UTSW |
6 |
119,952,771 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4822:Wnk1
|
UTSW |
6 |
119,962,438 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4879:Wnk1
|
UTSW |
6 |
119,949,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4970:Wnk1
|
UTSW |
6 |
119,965,735 (GRCm38) |
intron |
probably benign |
|
|
R5002:Wnk1
|
UTSW |
6 |
119,937,963 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5037:Wnk1
|
UTSW |
6 |
119,965,735 (GRCm38) |
intron |
probably benign |
|
|
R5152:Wnk1
|
UTSW |
6 |
120,002,280 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5257:Wnk1
|
UTSW |
6 |
120,037,188 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5354:Wnk1
|
UTSW |
6 |
119,968,523 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5421:Wnk1
|
UTSW |
6 |
119,952,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5564:Wnk1
|
UTSW |
6 |
119,948,891 (GRCm38) |
unclassified |
probably benign |
|
|
R5600:Wnk1
|
UTSW |
6 |
119,949,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5847:Wnk1
|
UTSW |
6 |
119,992,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6083:Wnk1
|
UTSW |
6 |
120,037,601 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6110:Wnk1
|
UTSW |
6 |
119,972,997 (GRCm38) |
intron |
probably benign |
|
|
R6128:Wnk1
|
UTSW |
6 |
119,963,786 (GRCm38) |
splice site |
probably null |
|
|
R6237:Wnk1
|
UTSW |
6 |
119,952,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6341:Wnk1
|
UTSW |
6 |
119,948,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6467:Wnk1
|
UTSW |
6 |
119,962,955 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6696:Wnk1
|
UTSW |
6 |
119,948,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6888:Wnk1
|
UTSW |
6 |
119,948,781 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6923:Wnk1
|
UTSW |
6 |
119,965,678 (GRCm38) |
intron |
probably benign |
|
|
R7024:Wnk1
|
UTSW |
6 |
119,965,726 (GRCm38) |
intron |
probably benign |
|
|
R7072:Wnk1
|
UTSW |
6 |
119,937,861 (GRCm38) |
missense |
unknown |
|
|
R7087:Wnk1
|
UTSW |
6 |
120,037,530 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7102:Wnk1
|
UTSW |
6 |
119,948,307 (GRCm38) |
missense |
unknown |
|
|
R7134:Wnk1
|
UTSW |
6 |
119,926,428 (GRCm38) |
missense |
unknown |
|
|
R7137:Wnk1
|
UTSW |
6 |
120,038,212 (GRCm38) |
unclassified |
probably benign |
|
|
R7142:Wnk1
|
UTSW |
6 |
119,949,279 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7174:Wnk1
|
UTSW |
6 |
119,970,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7205:Wnk1
|
UTSW |
6 |
119,943,878 (GRCm38) |
splice site |
probably null |
|
|
R7218:Wnk1
|
UTSW |
6 |
120,002,273 (GRCm38) |
nonsense |
probably null |
|
|
R7498:Wnk1
|
UTSW |
6 |
119,927,196 (GRCm38) |
missense |
unknown |
|
|
R7599:Wnk1
|
UTSW |
6 |
119,929,828 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7799:Wnk1
|
UTSW |
6 |
119,949,176 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7979:Wnk1
|
UTSW |
6 |
120,037,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8075:Wnk1
|
UTSW |
6 |
119,932,714 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8331:Wnk1
|
UTSW |
6 |
119,953,833 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8343:Wnk1
|
UTSW |
6 |
119,963,493 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8348:Wnk1
|
UTSW |
6 |
119,929,999 (GRCm38) |
splice site |
probably null |
|
|
R8359:Wnk1
|
UTSW |
6 |
119,992,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8424:Wnk1
|
UTSW |
6 |
119,934,427 (GRCm38) |
missense |
unknown |
|
|
R8519:Wnk1
|
UTSW |
6 |
119,950,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8930:Wnk1
|
UTSW |
6 |
119,963,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8932:Wnk1
|
UTSW |
6 |
119,963,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8933:Wnk1
|
UTSW |
6 |
120,036,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9005:Wnk1
|
UTSW |
6 |
119,962,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9147:Wnk1
|
UTSW |
6 |
119,948,670 (GRCm38) |
missense |
unknown |
|
|
R9148:Wnk1
|
UTSW |
6 |
119,948,670 (GRCm38) |
missense |
unknown |
|
|
R9354:Wnk1
|
UTSW |
6 |
119,965,699 (GRCm38) |
missense |
unknown |
|
|
R9379:Wnk1
|
UTSW |
6 |
119,951,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Wnk1
|
UTSW |
6 |
120,037,032 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Z1177:Wnk1
|
UTSW |
6 |
119,948,205 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGGGTAACAATCAGCCAAG -3'
(R):5'- CATTTCTGCCAATGGAGTGAGG -3'
Sequencing Primer
(F):5'- TCAGCCAAGCCACTGAGTAGATG -3'
(R):5'- CCAATGGAGTGAGGTCTGGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation