Incidental Mutation 'IGL00486:Wnk3'
| ID |
332200 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wnk3
|
| Ensembl Gene |
ENSMUSG00000041245 |
| Gene Name |
WNK lysine deficient protein kinase 3 |
| Synonyms |
Wnk3-ps, Prkwnk3, Wnk3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
IGL00486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
149981074-150103148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150016025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 494
(R494G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096285]
[ENSMUST00000149140]
[ENSMUST00000184392]
[ENSMUST00000184730]
|
| AlphaFold |
Q80XP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096285
AA Change: R494G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138839
Gene: ENSMUSG00000041245
AA Change: R494G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
136 |
N/A |
INTRINSIC |
|
S_TKc
|
146 |
404 |
4.88e-68 |
SMART |
|
Pfam:OSR1_C
|
425 |
462 |
7.9e-23 |
PFAM |
|
low complexity region
|
518 |
531 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
765 |
806 |
2.88e-5 |
PROSPERO |
|
low complexity region
|
1511 |
1532 |
N/A |
INTRINSIC |
|
coiled coil region
|
1535 |
1579 |
N/A |
INTRINSIC |
|
low complexity region
|
1580 |
1600 |
N/A |
INTRINSIC |
|
low complexity region
|
1656 |
1670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149140
AA Change: R494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139255
Gene: ENSMUSG00000041245
AA Change: R494G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
136 |
N/A |
INTRINSIC |
|
S_TKc
|
146 |
404 |
4.88e-68 |
SMART |
|
Pfam:OSR1_C
|
425 |
462 |
2.3e-23 |
PFAM |
|
low complexity region
|
518 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184392
AA Change: R494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139037
Gene: ENSMUSG00000041245
AA Change: R494G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
136 |
N/A |
INTRINSIC |
|
S_TKc
|
146 |
404 |
4.88e-68 |
SMART |
|
Pfam:OSR1_C
|
425 |
462 |
7.8e-23 |
PFAM |
|
low complexity region
|
518 |
531 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
733 |
774 |
2.87e-5 |
PROSPERO |
|
low complexity region
|
1479 |
1500 |
N/A |
INTRINSIC |
|
coiled coil region
|
1503 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1548 |
1568 |
N/A |
INTRINSIC |
|
low complexity region
|
1624 |
1638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184730
AA Change: R494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138822
Gene: ENSMUSG00000041245
AA Change: R494G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
136 |
N/A |
INTRINSIC |
|
S_TKc
|
146 |
404 |
4.88e-68 |
SMART |
|
Pfam:OSR1_C
|
425 |
462 |
7.5e-23 |
PFAM |
|
low complexity region
|
518 |
531 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
733 |
774 |
2.72e-5 |
PROSPERO |
|
low complexity region
|
1432 |
1453 |
N/A |
INTRINSIC |
|
coiled coil region
|
1456 |
1500 |
N/A |
INTRINSIC |
|
low complexity region
|
1501 |
1521 |
N/A |
INTRINSIC |
|
low complexity region
|
1577 |
1591 |
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.] This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lower blood pressure when fed a low-salt diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,708,864 (GRCm39) |
E286G |
probably benign |
Het |
| Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,445 (GRCm39) |
E217G |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
| Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,530,081 (GRCm39) |
L693F |
probably damaging |
Het |
| Mnd1 |
T |
C |
3: 84,045,505 (GRCm39) |
E33G |
possibly damaging |
Het |
| Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
| Poli |
C |
T |
18: 70,658,561 (GRCm39) |
G81R |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,314,170 (GRCm39) |
S401F |
probably damaging |
Het |
| Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,133 (GRCm39) |
Q350K |
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Wnk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03033:Wnk3
|
APN |
X |
150,059,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Wnk3
|
UTSW |
X |
150,069,300 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4407:Wnk3
|
UTSW |
X |
150,016,209 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4789:Wnk3
|
UTSW |
X |
149,993,933 (GRCm39) |
nonsense |
probably null |
|
|
U24488:Wnk3
|
UTSW |
X |
149,992,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation