Incidental Mutation 'IGL02228:Wnk2'
| ID |
285390 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wnk2
|
| Ensembl Gene |
ENSMUSG00000037989 |
| Gene Name |
WNK lysine deficient protein kinase 2 |
| Synonyms |
ESTM15, X83337, 1810073P09Rik |
| Accession Numbers |
|
| Is this an essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
IGL02228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49036303-49148014 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49056940 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1801
(I1801N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035538]
[ENSMUST00000049265]
[ENSMUST00000091623]
[ENSMUST00000110096]
[ENSMUST00000110097]
[ENSMUST00000159196]
[ENSMUST00000159559]
[ENSMUST00000160087]
[ENSMUST00000162403]
[ENSMUST00000162581]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035538
AA Change: I1813N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047231
Gene: ENSMUSG00000037989
AA Change: I1813N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
451 |
4.5e-42 |
PFAM |
|
Pfam:Pkinase
|
195 |
453 |
1.7e-56 |
PFAM |
|
Pfam:OSR1_C
|
474 |
511 |
5.6e-22 |
PFAM |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1136 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1162 |
1185 |
6.72e-6 |
PROSPERO |
|
low complexity region
|
1275 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1317 |
1353 |
N/A |
INTRINSIC |
|
low complexity region
|
1429 |
1441 |
N/A |
INTRINSIC |
|
low complexity region
|
1449 |
1457 |
N/A |
INTRINSIC |
|
low complexity region
|
1464 |
1489 |
N/A |
INTRINSIC |
|
low complexity region
|
1587 |
1597 |
N/A |
INTRINSIC |
|
low complexity region
|
1820 |
1831 |
N/A |
INTRINSIC |
|
coiled coil region
|
1836 |
1867 |
N/A |
INTRINSIC |
|
low complexity region
|
2033 |
2053 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049265
AA Change: I1813N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049327
Gene: ENSMUSG00000037989
AA Change: I1813N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
S_TKc
|
195 |
453 |
3.3e-19 |
SMART |
|
Pfam:OSR1_C
|
474 |
511 |
5.6e-19 |
PFAM |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1136 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1162 |
1185 |
9.51e-6 |
PROSPERO |
|
low complexity region
|
1275 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1317 |
1353 |
N/A |
INTRINSIC |
|
low complexity region
|
1429 |
1441 |
N/A |
INTRINSIC |
|
low complexity region
|
1449 |
1457 |
N/A |
INTRINSIC |
|
low complexity region
|
1464 |
1489 |
N/A |
INTRINSIC |
|
low complexity region
|
1587 |
1597 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1611 |
1703 |
2.12e-5 |
PROSPERO |
|
low complexity region
|
1820 |
1831 |
N/A |
INTRINSIC |
|
coiled coil region
|
1836 |
1867 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1923 |
2023 |
2.12e-5 |
PROSPERO |
|
low complexity region
|
2069 |
2089 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091623
AA Change: I1813N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000089212
Gene: ENSMUSG00000037989
AA Change: I1813N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
451 |
1.6e-41 |
PFAM |
|
Pfam:Pkinase
|
195 |
453 |
1e-54 |
PFAM |
|
Pfam:OSR1_C
|
474 |
511 |
4e-22 |
PFAM |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1136 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1162 |
1185 |
1.52e-5 |
PROSPERO |
|
low complexity region
|
1275 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1317 |
1353 |
N/A |
INTRINSIC |
|
low complexity region
|
1429 |
1441 |
N/A |
INTRINSIC |
|
low complexity region
|
1449 |
1457 |
N/A |
INTRINSIC |
|
low complexity region
|
1464 |
1489 |
N/A |
INTRINSIC |
|
low complexity region
|
1587 |
1597 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1611 |
1713 |
7.41e-5 |
PROSPERO |
|
low complexity region
|
1820 |
1831 |
N/A |
INTRINSIC |
|
coiled coil region
|
1836 |
1867 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1923 |
2027 |
7.41e-5 |
PROSPERO |
|
low complexity region
|
2117 |
2137 |
N/A |
INTRINSIC |
|
low complexity region
|
2191 |
2202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110096
AA Change: I1714N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105723
Gene: ENSMUSG00000037989
AA Change: I1714N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
451 |
4.6e-42 |
PFAM |
|
Pfam:Pkinase
|
195 |
453 |
1.7e-56 |
PFAM |
|
Pfam:OSR1_C
|
474 |
511 |
5.6e-22 |
PFAM |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1038 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1064 |
1087 |
2.89e-5 |
PROSPERO |
|
low complexity region
|
1177 |
1194 |
N/A |
INTRINSIC |
|
low complexity region
|
1219 |
1255 |
N/A |
INTRINSIC |
|
low complexity region
|
1331 |
1343 |
N/A |
INTRINSIC |
|
low complexity region
|
1351 |
1359 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1391 |
N/A |
INTRINSIC |
|
low complexity region
|
1489 |
1498 |
N/A |
INTRINSIC |
|
low complexity region
|
1721 |
1732 |
N/A |
INTRINSIC |
|
coiled coil region
|
1737 |
1768 |
N/A |
INTRINSIC |
|
low complexity region
|
2018 |
2038 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110097
AA Change: I1813N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105724
Gene: ENSMUSG00000037989
AA Change: I1813N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
451 |
4.7e-42 |
PFAM |
|
Pfam:Pkinase
|
195 |
453 |
1.7e-56 |
PFAM |
|
Pfam:OSR1_C
|
474 |
511 |
5.8e-22 |
PFAM |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1136 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1162 |
1185 |
1.16e-5 |
PROSPERO |
|
low complexity region
|
1275 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1317 |
1353 |
N/A |
INTRINSIC |
|
low complexity region
|
1429 |
1441 |
N/A |
INTRINSIC |
|
low complexity region
|
1449 |
1457 |
N/A |
INTRINSIC |
|
low complexity region
|
1464 |
1489 |
N/A |
INTRINSIC |
|
low complexity region
|
1587 |
1597 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1611 |
1713 |
5.74e-5 |
PROSPERO |
|
low complexity region
|
1820 |
1831 |
N/A |
INTRINSIC |
|
coiled coil region
|
1836 |
1867 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1923 |
2027 |
5.74e-5 |
PROSPERO |
|
low complexity region
|
2117 |
2137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159196
AA Change: I308N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124598
Gene: ENSMUSG00000037989
AA Change: I308N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
331 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
697 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159559
AA Change: I1801N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123915
Gene: ENSMUSG00000037989
AA Change: I1801N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
451 |
4.7e-42 |
PFAM |
|
Pfam:Pkinase
|
195 |
453 |
1.7e-56 |
PFAM |
|
Pfam:OSR1_C
|
474 |
511 |
5.8e-22 |
PFAM |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
819 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
926 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1009 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1124 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1150 |
1173 |
7.19e-6 |
PROSPERO |
|
low complexity region
|
1263 |
1280 |
N/A |
INTRINSIC |
|
low complexity region
|
1305 |
1341 |
N/A |
INTRINSIC |
|
low complexity region
|
1417 |
1429 |
N/A |
INTRINSIC |
|
low complexity region
|
1437 |
1445 |
N/A |
INTRINSIC |
|
low complexity region
|
1452 |
1477 |
N/A |
INTRINSIC |
|
low complexity region
|
1575 |
1585 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1599 |
1701 |
3.66e-5 |
PROSPERO |
|
low complexity region
|
1808 |
1819 |
N/A |
INTRINSIC |
|
coiled coil region
|
1824 |
1855 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1911 |
2015 |
3.66e-5 |
PROSPERO |
|
low complexity region
|
2105 |
2125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159633
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160087
AA Change: I954N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124614
Gene: ENSMUSG00000037989
AA Change: I954N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
631 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
972 |
N/A |
INTRINSIC |
|
coiled coil region
|
977 |
1008 |
N/A |
INTRINSIC |
|
low complexity region
|
1258 |
1278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162403
AA Change: I1703N
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125539
Gene: ENSMUSG00000037989
AA Change: I1703N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
451 |
4.3e-42 |
PFAM |
|
Pfam:Pkinase
|
195 |
453 |
1.6e-56 |
PFAM |
|
Pfam:OSR1_C
|
474 |
511 |
5.3e-22 |
PFAM |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
819 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
926 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1026 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1052 |
1075 |
1.05e-5 |
PROSPERO |
|
low complexity region
|
1165 |
1182 |
N/A |
INTRINSIC |
|
low complexity region
|
1207 |
1243 |
N/A |
INTRINSIC |
|
low complexity region
|
1319 |
1331 |
N/A |
INTRINSIC |
|
low complexity region
|
1339 |
1347 |
N/A |
INTRINSIC |
|
low complexity region
|
1354 |
1379 |
N/A |
INTRINSIC |
|
low complexity region
|
1477 |
1487 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1501 |
1593 |
2.32e-5 |
PROSPERO |
|
low complexity region
|
1710 |
1721 |
N/A |
INTRINSIC |
|
coiled coil region
|
1726 |
1757 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1813 |
1913 |
2.32e-5 |
PROSPERO |
|
low complexity region
|
1959 |
1979 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162581
AA Change: I1813N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125448
Gene: ENSMUSG00000037989
AA Change: I1813N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
451 |
4.5e-42 |
PFAM |
|
Pfam:Pkinase
|
195 |
453 |
1.7e-56 |
PFAM |
|
Pfam:OSR1_C
|
474 |
511 |
5.6e-22 |
PFAM |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1136 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1162 |
1185 |
6.72e-6 |
PROSPERO |
|
low complexity region
|
1275 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1317 |
1353 |
N/A |
INTRINSIC |
|
low complexity region
|
1429 |
1441 |
N/A |
INTRINSIC |
|
low complexity region
|
1449 |
1457 |
N/A |
INTRINSIC |
|
low complexity region
|
1464 |
1489 |
N/A |
INTRINSIC |
|
low complexity region
|
1587 |
1597 |
N/A |
INTRINSIC |
|
low complexity region
|
1820 |
1831 |
N/A |
INTRINSIC |
|
coiled coil region
|
1836 |
1867 |
N/A |
INTRINSIC |
|
low complexity region
|
2033 |
2053 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,016,964 |
V282A |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,531,866 |
D169G |
probably damaging |
Het |
| Adam8 |
C |
T |
7: 139,988,806 |
|
probably null |
Het |
| Agpat1 |
T |
C |
17: 34,610,562 |
F37L |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 32,016,714 |
D410E |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,246,800 |
V378D |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,254,885 |
Y130C |
possibly damaging |
Het |
| B020004J07Rik |
T |
C |
4: 101,836,858 |
Y276C |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,293,076 |
H419R |
possibly damaging |
Het |
| Capza3 |
A |
G |
6: 140,041,915 |
D80G |
probably benign |
Het |
| Col6a4 |
C |
T |
9: 106,068,078 |
D946N |
probably benign |
Het |
| Crat |
T |
C |
2: 30,413,182 |
H31R |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,043,733 |
V419A |
probably damaging |
Het |
| Ebf1 |
T |
C |
11: 44,972,912 |
V363A |
probably damaging |
Het |
| Gm13119 |
A |
G |
4: 144,362,661 |
K183R |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 34,047,424 |
F24S |
probably damaging |
Het |
| Lgmn |
G |
A |
12: 102,395,714 |
T376I |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,811,864 |
L47F |
probably benign |
Het |
| Mier1 |
T |
A |
4: 103,131,062 |
M44K |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,062,987 |
Q439K |
probably benign |
Het |
| Olfr303 |
A |
C |
7: 86,395,078 |
I140S |
possibly damaging |
Het |
| Pcgf6 |
A |
C |
19: 47,047,982 |
F216C |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,389,474 |
R1732K |
probably benign |
Het |
| Rbbp4 |
A |
T |
4: 129,317,750 |
H370Q |
probably damaging |
Het |
| Reln |
A |
G |
5: 21,904,731 |
V3127A |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,042,231 |
V1019E |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 104,008,600 |
R98Q |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,230,798 |
G324V |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,459,810 |
L209P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,813,734 |
T1695S |
probably damaging |
Het |
| Tulp3 |
G |
A |
6: 128,334,485 |
T74M |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 59,288,396 |
|
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,281,686 |
S23T |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,608,428 |
E1509G |
possibly damaging |
Het |
|
| Other mutations in Wnk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Wnk2
|
APN |
13 |
49068192 |
missense |
possibly damaging |
0.89 |
|
IGL01575:Wnk2
|
APN |
13 |
49146676 |
missense |
probably damaging |
1.00 |
|
IGL01601:Wnk2
|
APN |
13 |
49076562 |
missense |
probably damaging |
1.00 |
|
IGL01775:Wnk2
|
APN |
13 |
49071110 |
missense |
probably damaging |
1.00 |
|
IGL02013:Wnk2
|
APN |
13 |
49082034 |
missense |
possibly damaging |
0.46 |
|
IGL02016:Wnk2
|
APN |
13 |
49056905 |
missense |
probably damaging |
1.00 |
|
IGL02167:Wnk2
|
APN |
13 |
49071125 |
critical splice acceptor site |
probably null |
|
|
IGL02174:Wnk2
|
APN |
13 |
49057167 |
missense |
probably damaging |
1.00 |
|
IGL02210:Wnk2
|
APN |
13 |
49090869 |
missense |
probably damaging |
0.98 |
|
IGL02282:Wnk2
|
APN |
13 |
49068125 |
missense |
probably damaging |
1.00 |
|
IGL02319:Wnk2
|
APN |
13 |
49061438 |
missense |
possibly damaging |
0.73 |
|
IGL02394:Wnk2
|
APN |
13 |
49081899 |
splice site |
probably null |
|
|
IGL02624:Wnk2
|
APN |
13 |
49102802 |
missense |
probably damaging |
1.00 |
|
IGL02743:Wnk2
|
APN |
13 |
49095444 |
missense |
probably damaging |
1.00 |
|
IGL03012:Wnk2
|
APN |
13 |
49044389 |
missense |
probably damaging |
0.99 |
|
IGL03166:Wnk2
|
APN |
13 |
49071044 |
nonsense |
probably null |
|
|
R0034:Wnk2
|
UTSW |
13 |
49068080 |
missense |
possibly damaging |
0.64 |
|
R0385:Wnk2
|
UTSW |
13 |
49068128 |
missense |
probably damaging |
1.00 |
|
R0423:Wnk2
|
UTSW |
13 |
49095418 |
missense |
possibly damaging |
0.91 |
|
R0504:Wnk2
|
UTSW |
13 |
49085394 |
missense |
possibly damaging |
0.92 |
|
R0504:Wnk2
|
UTSW |
13 |
49085396 |
missense |
probably damaging |
1.00 |
|
R0653:Wnk2
|
UTSW |
13 |
49057016 |
missense |
possibly damaging |
0.85 |
|
R1135:Wnk2
|
UTSW |
13 |
49076558 |
missense |
probably damaging |
1.00 |
|
R1445:Wnk2
|
UTSW |
13 |
49071110 |
missense |
probably damaging |
1.00 |
|
R1464:Wnk2
|
UTSW |
13 |
49081975 |
missense |
probably damaging |
1.00 |
|
R1464:Wnk2
|
UTSW |
13 |
49081975 |
missense |
probably damaging |
1.00 |
|
R1468:Wnk2
|
UTSW |
13 |
49082095 |
missense |
probably damaging |
0.99 |
|
R1468:Wnk2
|
UTSW |
13 |
49082095 |
missense |
probably damaging |
0.99 |
|
R1480:Wnk2
|
UTSW |
13 |
49057232 |
missense |
probably damaging |
1.00 |
|
R1605:Wnk2
|
UTSW |
13 |
49060894 |
missense |
probably damaging |
1.00 |
|
R1719:Wnk2
|
UTSW |
13 |
49060726 |
missense |
possibly damaging |
0.76 |
|
R1891:Wnk2
|
UTSW |
13 |
49052724 |
nonsense |
probably null |
|
|
R1966:Wnk2
|
UTSW |
13 |
49039011 |
missense |
probably damaging |
0.96 |
|
R2001:Wnk2
|
UTSW |
13 |
49078682 |
missense |
possibly damaging |
0.61 |
|
R2310:Wnk2
|
UTSW |
13 |
49050577 |
missense |
probably damaging |
0.97 |
|
R2356:Wnk2
|
UTSW |
13 |
49039168 |
nonsense |
probably null |
|
|
R2406:Wnk2
|
UTSW |
13 |
49061488 |
missense |
possibly damaging |
0.86 |
|
R2519:Wnk2
|
UTSW |
13 |
49071029 |
missense |
probably damaging |
0.99 |
|
R3962:Wnk2
|
UTSW |
13 |
49070977 |
missense |
probably damaging |
1.00 |
|
R4160:Wnk2
|
UTSW |
13 |
49090837 |
missense |
probably damaging |
1.00 |
|
R4161:Wnk2
|
UTSW |
13 |
49090837 |
missense |
probably damaging |
1.00 |
|
R4226:Wnk2
|
UTSW |
13 |
49090837 |
missense |
probably damaging |
1.00 |
|
R4227:Wnk2
|
UTSW |
13 |
49090837 |
missense |
probably damaging |
1.00 |
|
R4234:Wnk2
|
UTSW |
13 |
49061128 |
missense |
probably benign |
0.33 |
|
R4304:Wnk2
|
UTSW |
13 |
49090837 |
missense |
probably damaging |
1.00 |
|
R4308:Wnk2
|
UTSW |
13 |
49090837 |
missense |
probably damaging |
1.00 |
|
R4584:Wnk2
|
UTSW |
13 |
49090837 |
missense |
probably damaging |
1.00 |
|
R4655:Wnk2
|
UTSW |
13 |
49056883 |
missense |
probably damaging |
1.00 |
|
R4715:Wnk2
|
UTSW |
13 |
49147232 |
start codon destroyed |
unknown |
|
|
R4887:Wnk2
|
UTSW |
13 |
49071002 |
missense |
probably damaging |
1.00 |
|
R4888:Wnk2
|
UTSW |
13 |
49071002 |
missense |
probably damaging |
1.00 |
|
R4945:Wnk2
|
UTSW |
13 |
49057246 |
missense |
probably damaging |
1.00 |
|
R5182:Wnk2
|
UTSW |
13 |
49061161 |
missense |
possibly damaging |
0.92 |
|
R5243:Wnk2
|
UTSW |
13 |
49072578 |
missense |
possibly damaging |
0.51 |
|
R5370:Wnk2
|
UTSW |
13 |
49102961 |
missense |
probably damaging |
1.00 |
|
R5771:Wnk2
|
UTSW |
13 |
49102800 |
missense |
probably damaging |
1.00 |
|
R5877:Wnk2
|
UTSW |
13 |
49067306 |
missense |
probably damaging |
0.98 |
|
R5900:Wnk2
|
UTSW |
13 |
49102832 |
missense |
probably damaging |
1.00 |
|
R5905:Wnk2
|
UTSW |
13 |
49076345 |
missense |
probably damaging |
0.99 |
|
R5912:Wnk2
|
UTSW |
13 |
49060774 |
missense |
probably damaging |
1.00 |
|
R5915:Wnk2
|
UTSW |
13 |
49078085 |
missense |
probably damaging |
0.99 |
|
R6028:Wnk2
|
UTSW |
13 |
49076345 |
missense |
probably damaging |
0.99 |
|
R6074:Wnk2
|
UTSW |
13 |
49051399 |
missense |
probably damaging |
1.00 |
|
R6171:Wnk2
|
UTSW |
13 |
49060832 |
missense |
probably damaging |
1.00 |
|
R6368:Wnk2
|
UTSW |
13 |
49061338 |
missense |
probably damaging |
0.99 |
|
R6467:Wnk2
|
UTSW |
13 |
49146605 |
missense |
probably damaging |
1.00 |
|
R6501:Wnk2
|
UTSW |
13 |
49146683 |
missense |
probably damaging |
1.00 |
|
R6849:Wnk2
|
UTSW |
13 |
49067358 |
missense |
probably damaging |
1.00 |
|
R6898:Wnk2
|
UTSW |
13 |
49071081 |
missense |
probably damaging |
1.00 |
|
R6949:Wnk2
|
UTSW |
13 |
49101140 |
missense |
probably damaging |
1.00 |
|
R7011:Wnk2
|
UTSW |
13 |
49071091 |
missense |
probably damaging |
0.99 |
|
R7097:Wnk2
|
UTSW |
13 |
49102838 |
missense |
possibly damaging |
0.86 |
|
R7121:Wnk2
|
UTSW |
13 |
49147177 |
missense |
probably benign |
0.26 |
|
R7123:Wnk2
|
UTSW |
13 |
49081986 |
missense |
possibly damaging |
0.90 |
|
R7423:Wnk2
|
UTSW |
13 |
49038132 |
missense |
probably benign |
0.07 |
|
R7502:Wnk2
|
UTSW |
13 |
49147244 |
splice site |
probably null |
|
|
R7529:Wnk2
|
UTSW |
13 |
49100981 |
missense |
possibly damaging |
0.50 |
|
R7751:Wnk2
|
UTSW |
13 |
49078017 |
missense |
unknown |
|
|
R7979:Wnk2
|
UTSW |
13 |
49095408 |
missense |
probably damaging |
1.00 |
|
R8118:Wnk2
|
UTSW |
13 |
49090983 |
missense |
probably damaging |
0.99 |
|
R8121:Wnk2
|
UTSW |
13 |
49060939 |
nonsense |
probably null |
|
|
R8155:Wnk2
|
UTSW |
13 |
49039101 |
missense |
unknown |
|
|
R8329:Wnk2
|
UTSW |
13 |
49095438 |
missense |
probably damaging |
1.00 |
|
R8334:Wnk2
|
UTSW |
13 |
49050482 |
critical splice donor site |
probably null |
|
|
R8872:Wnk2
|
UTSW |
13 |
49057484 |
missense |
probably benign |
0.00 |
|
R8919:Wnk2
|
UTSW |
13 |
49068235 |
missense |
possibly damaging |
0.86 |
|
R9091:Wnk2
|
UTSW |
13 |
49071029 |
missense |
probably benign |
0.41 |
|
R9234:Wnk2
|
UTSW |
13 |
49070798 |
missense |
probably damaging |
0.99 |
|
R9262:Wnk2
|
UTSW |
13 |
49067954 |
missense |
probably benign |
0.12 |
|
R9268:Wnk2
|
UTSW |
13 |
49082031 |
missense |
possibly damaging |
0.82 |
|
R9270:Wnk2
|
UTSW |
13 |
49071029 |
missense |
probably benign |
0.41 |
|
R9386:Wnk2
|
UTSW |
13 |
49067346 |
missense |
probably damaging |
0.98 |
|
R9582:Wnk2
|
UTSW |
13 |
49057499 |
missense |
probably benign |
0.01 |
|
R9617:Wnk2
|
UTSW |
13 |
49038977 |
missense |
unknown |
|
|
R9625:Wnk2
|
UTSW |
13 |
49100969 |
missense |
probably benign |
0.20 |
|
R9794:Wnk2
|
UTSW |
13 |
49076198 |
missense |
probably benign |
0.02 |
|
RF023:Wnk2
|
UTSW |
13 |
49146779 |
missense |
probably benign |
0.00 |
|
X0025:Wnk2
|
UTSW |
13 |
49060942 |
missense |
probably damaging |
0.99 |
|
X0063:Wnk2
|
UTSW |
13 |
49038977 |
missense |
unknown |
|
|
Z1176:Wnk2
|
UTSW |
13 |
49038061 |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation