Incidental Mutation 'IGL00486:Wnk3'
ID332200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnk3
Ensembl Gene ENSMUSG00000041245
Gene NameWNK lysine deficient protein kinase 3
SynonymsPrkwnk3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL00486
Quality Score
Status
ChromosomeX
Chromosomal Location151198078-151320152 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 151233029 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,853 T576A probably damaging Het
As3mt A G 19: 46,720,425 E286G probably benign Het
Baiap3 G T 17: 25,248,377 probably benign Het
C1qc T C 4: 136,890,134 E217G probably damaging Het
Ccser2 A G 14: 36,940,064 Y388H probably damaging Het
Clcn7 C A 17: 25,151,123 A328D probably damaging Het
Clstn1 G A 4: 149,635,243 R415Q probably damaging Het
Hcn4 T C 9: 58,860,053 S966P unknown Het
Heph A T X: 96,527,678 D748V probably damaging Het
Herc1 C T 9: 66,476,120 T3691I probably benign Het
Hsd17b14 A G 7: 45,566,713 T236A possibly damaging Het
Kif28 C A 1: 179,702,516 L693F probably damaging Het
Mnd1 T C 3: 84,138,198 E33G possibly damaging Het
Nbas T G 12: 13,453,075 D1520E probably benign Het
Poli C T 18: 70,525,490 G81R probably damaging Het
Pou6f2 G A 13: 18,139,585 S401F probably damaging Het
Ppp1r3c G A 19: 36,733,924 R149W probably damaging Het
Ptprc C A 1: 138,115,621 C64F probably damaging Het
Ptprz1 T C 6: 22,973,054 Y274H probably damaging Het
Ranbp2 T A 10: 58,477,612 L1385I probably benign Het
Sgms1 A T 19: 32,159,625 F180L probably damaging Het
Slc7a9 T A 7: 35,460,887 M396K probably damaging Het
Syt17 T C 7: 118,434,290 D165G probably damaging Het
Tnxb T C 17: 34,692,382 L1553P probably damaging Het
Trim31 C A 17: 36,909,241 Q350K probably benign Het
Zmym6 A G 4: 127,124,185 probably benign Het
Other mutations in Wnk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03033:Wnk3 APN X 151276928 missense probably damaging 1.00
R3436:Wnk3 UTSW X 151286304 missense probably benign 0.16
R4407:Wnk3 UTSW X 151233213 missense probably benign 0.04
R4789:Wnk3 UTSW X 151210937 nonsense probably null
U24488:Wnk3 UTSW X 151209460 missense probably damaging 1.00
Posted On2015-08-05