Incidental Mutation 'IGL03033:Wnk3'
ID 408526
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) question?
Stock # IGL03033
Quality Score
Status
Chromosome X
Chromosomal Location 149981074-150103148 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 150059924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 742 (D742N)
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: D774N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138839
Gene: ENSMUSG00000041245
AA Change: D774N

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 benign
Transcript: ENSMUST00000149140
SMART Domains Protein: ENSMUSP00000139255
Gene: ENSMUSG00000041245

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: D742N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139037
Gene: ENSMUSG00000041245
AA Change: D742N

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: D742N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138822
Gene: ENSMUSG00000041245
AA Change: D742N

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,452 (GRCm39) T566S probably benign Het
Ap3b1 A G 13: 94,585,003 (GRCm39) T405A probably benign Het
Bicd2 G T 13: 49,533,396 (GRCm39) V587L probably benign Het
Bsn A T 9: 107,993,192 (GRCm39) D853E probably damaging Het
Cacna1i C A 15: 80,246,440 (GRCm39) N611K probably damaging Het
Capn11 A G 17: 45,953,473 (GRCm39) L227P probably damaging Het
Copb2 A G 9: 98,452,426 (GRCm39) N70S probably benign Het
Ddb1 T C 19: 10,603,290 (GRCm39) V866A possibly damaging Het
Dst A G 1: 34,208,826 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,551 (GRCm39) Y117C probably damaging Het
Esyt1 T G 10: 128,352,252 (GRCm39) R758S probably benign Het
Gm20441 A G 10: 75,607,326 (GRCm39) F55S probably damaging Het
Gm20547 A T 17: 35,078,492 (GRCm39) M362K probably damaging Het
Gucy1b2 A G 14: 62,653,393 (GRCm39) V334A probably benign Het
Hnrnph3 A T 10: 62,853,958 (GRCm39) F53L probably benign Het
Kcnk18 C T 19: 59,223,616 (GRCm39) P254S probably benign Het
Lrfn5 T A 12: 61,886,833 (GRCm39) L207Q probably damaging Het
Lrp3 T C 7: 34,902,052 (GRCm39) M589V possibly damaging Het
Nlrp1b A G 11: 71,052,665 (GRCm39) V918A probably benign Het
Nsg2 A G 11: 31,951,836 (GRCm39) T29A probably damaging Het
Or51b4 T A 7: 103,530,724 (GRCm39) H242L probably damaging Het
Pank4 C T 4: 155,059,172 (GRCm39) T435I probably damaging Het
Prom1 C T 5: 44,163,502 (GRCm39) probably null Het
Prr14 G T 7: 127,071,135 (GRCm39) L3F probably damaging Het
Rfx7 A T 9: 72,440,271 (GRCm39) probably benign Het
Rhbdl3 A G 11: 80,237,653 (GRCm39) N295S probably damaging Het
Ripk3 A G 14: 56,024,622 (GRCm39) probably benign Het
Ror1 A T 4: 100,269,092 (GRCm39) N310I possibly damaging Het
Rpl23a T C 11: 78,072,408 (GRCm39) Y74C possibly damaging Het
Rtp3 A T 9: 110,815,162 (GRCm39) probably benign Het
Sbno1 A T 5: 124,514,213 (GRCm39) N1326K probably damaging Het
Sepsecs T C 5: 52,818,018 (GRCm39) N253S probably damaging Het
Setd2 A C 9: 110,380,343 (GRCm39) E1386A possibly damaging Het
Sf3b3 T C 8: 111,537,596 (GRCm39) I1211V possibly damaging Het
Sh3tc2 G A 18: 62,107,549 (GRCm39) V187M possibly damaging Het
Slc30a6 G T 17: 74,716,373 (GRCm39) E136* probably null Het
Sptan1 T A 2: 29,881,045 (GRCm39) V438E probably damaging Het
Stab2 A G 10: 86,832,667 (GRCm39) probably null Het
Sult2a1 T A 7: 13,566,635 (GRCm39) probably benign Het
Tmem198 A G 1: 75,459,612 (GRCm39) D189G possibly damaging Het
Tnfrsf8 C A 4: 145,019,219 (GRCm39) L205F possibly damaging Het
Vmn1r68 T A 7: 10,262,074 (GRCm39) E8V probably damaging Het
Xpc A T 6: 91,468,297 (GRCm39) probably null Het
Zfp113 A T 5: 138,149,458 (GRCm39) probably benign Het
Zfp120 A T 2: 149,961,794 (GRCm39) D51E probably benign Het
Zfp473 C T 7: 44,382,522 (GRCm39) V603M probably benign Het
Other mutations in Wnk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Wnk3 APN X 150,016,025 (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 2016-08-02