Incidental Mutation 'R8458:Wnk4'
ID 655138
Institutional Source Beutler Lab
Gene Symbol Wnk4
Ensembl Gene ENSMUSG00000035112
Gene Name WNK lysine deficient protein kinase 4
Synonyms 2010002J11Rik, Prkwnk4
MMRRC Submission 067835-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R8458 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101151393-101168235 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 101166147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 891 (C891*)
Ref Sequence ENSEMBL: ENSMUSP00000099397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017332] [ENSMUST00000103107] [ENSMUST00000103108] [ENSMUST00000139487] [ENSMUST00000147741] [ENSMUST00000168089] [ENSMUST00000170056]
AlphaFold Q80UE6
Predicted Effect probably benign
Transcript: ENSMUST00000017332
SMART Domains Protein: ENSMUSP00000017332
Gene: ENSMUSG00000017188

DomainStartEndE-ValueType
Pfam:Coiled-coil_56 1 106 1.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103107
SMART Domains Protein: ENSMUSP00000099396
Gene: ENSMUSG00000078653

DomainStartEndE-ValueType
Pfam:Cyclin_N 111 180 1.8e-6 PFAM
low complexity region 212 221 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000103108
AA Change: C891*
SMART Domains Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: C891*

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
low complexity region 95 105 N/A INTRINSIC
low complexity region 126 155 N/A INTRINSIC
Pfam:Pkinase_Tyr 171 427 4.7e-42 PFAM
Pfam:Pkinase 171 429 9e-55 PFAM
Pfam:OSR1_C 450 486 3e-18 PFAM
low complexity region 503 513 N/A INTRINSIC
low complexity region 516 530 N/A INTRINSIC
low complexity region 544 560 N/A INTRINSIC
low complexity region 627 638 N/A INTRINSIC
low complexity region 660 678 N/A INTRINSIC
low complexity region 757 778 N/A INTRINSIC
low complexity region 793 808 N/A INTRINSIC
low complexity region 841 877 N/A INTRINSIC
low complexity region 882 915 N/A INTRINSIC
low complexity region 921 951 N/A INTRINSIC
low complexity region 1014 1033 N/A INTRINSIC
low complexity region 1093 1112 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139487
SMART Domains Protein: ENSMUSP00000129666
Gene: ENSMUSG00000035112

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
low complexity region 95 105 N/A INTRINSIC
low complexity region 126 155 N/A INTRINSIC
Pfam:Pkinase_Tyr 171 242 4e-8 PFAM
Pfam:Pkinase 171 252 1.9e-10 PFAM
low complexity region 269 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147741
SMART Domains Protein: ENSMUSP00000131298
Gene: ENSMUSG00000035112

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
low complexity region 95 105 N/A INTRINSIC
low complexity region 126 155 N/A INTRINSIC
Pfam:Pkinase 171 394 9.3e-50 PFAM
Pfam:Pkinase_Tyr 171 399 3.7e-38 PFAM
low complexity region 401 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168089
SMART Domains Protein: ENSMUSP00000130367
Gene: ENSMUSG00000017188

DomainStartEndE-ValueType
Pfam:Coiled-coil_56 1 74 2.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170056
SMART Domains Protein: ENSMUSP00000132123
Gene: ENSMUSG00000035112

DomainStartEndE-ValueType
Pfam:OSR1_C 13 49 8.6e-20 PFAM
low complexity region 66 76 N/A INTRINSIC
low complexity region 79 93 N/A INTRINSIC
low complexity region 107 123 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170372
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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 family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele display increased Na+, K+ and Cl- urinary excretion, alkalosis and decreased plasma Cl-, K+, Mg2+ and renin levels. Mice homozygous for a point mutation exhibit acidosis, hypertension, increased circulating potassium levels and decreased potassium excretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T A 15: 94,251,521 (GRCm39) H422L probably benign Het
Adgra3 G T 5: 50,145,013 (GRCm39) P527T probably damaging Het
Afg1l A G 10: 42,302,517 (GRCm39) V161A probably damaging Het
Als2cl A C 9: 110,714,025 (GRCm39) E65A probably damaging Het
Arl3 A C 19: 46,546,709 (GRCm39) S39A probably benign Het
Cacna1a T C 8: 85,276,087 (GRCm39) V560A probably damaging Het
Ccr10 C T 11: 101,064,982 (GRCm39) G183R probably damaging Het
Celsr2 T A 3: 108,306,218 (GRCm39) T2029S probably benign Het
Chkb A T 15: 89,312,376 (GRCm39) V213E possibly damaging Het
Chst5 A G 8: 112,617,422 (GRCm39) V66A probably damaging Het
Crx C A 7: 15,602,031 (GRCm39) A216S possibly damaging Het
Ctnnd1 T C 2: 84,444,287 (GRCm39) D556G probably damaging Het
Cyp4a14 C A 4: 115,353,129 (GRCm39) G61V probably damaging Het
Cyp4f17 T A 17: 32,739,550 (GRCm39) F157L probably damaging Het
Dnah12 A T 14: 26,548,849 (GRCm39) probably null Het
Dnah14 A C 1: 181,633,577 (GRCm39) H4P Het
Dnah7a T C 1: 53,657,142 (GRCm39) D878G probably benign Het
Epb41l1 C T 2: 156,363,684 (GRCm39) T731I probably benign Het
Epg5 G C 18: 77,991,946 (GRCm39) E214D probably benign Het
Fam171b A G 2: 83,690,864 (GRCm39) T276A probably benign Het
Fat4 G A 3: 39,035,702 (GRCm39) R3118H probably benign Het
Fbrs C T 7: 127,082,329 (GRCm39) R327W probably damaging Het
Fmo3 A G 1: 162,794,509 (GRCm39) V187A possibly damaging Het
Gins1 T C 2: 150,772,807 (GRCm39) V190A probably benign Het
Gm17067 T C 7: 42,358,155 (GRCm39) S116G probably damaging Het
Gm5478 A G 15: 101,553,862 (GRCm39) V250A probably benign Het
Gpr85 T C 6: 13,836,848 (GRCm39) T19A probably benign Het
Hepacam2 T C 6: 3,483,358 (GRCm39) N217S probably damaging Het
Igf1r T C 7: 67,845,377 (GRCm39) Y889H probably benign Het
Itpr2 T G 6: 146,135,464 (GRCm39) R1822S possibly damaging Het
Kcnk7 C T 19: 5,754,407 (GRCm39) probably benign Het
Klk1 T C 7: 43,874,933 (GRCm39) S11P probably damaging Het
Klra7 C T 6: 130,201,109 (GRCm39) G216R probably damaging Het
Krt34 T C 11: 99,930,901 (GRCm39) D167G probably damaging Het
Larp1b A C 3: 40,930,995 (GRCm39) E291D probably benign Het
Lats1 T A 10: 7,586,688 (GRCm39) L950* probably null Het
Lrrc2 A C 9: 110,799,218 (GRCm39) D255A probably damaging Het
Lrrc49 A T 9: 60,505,456 (GRCm39) M605K probably benign Het
Mocos A G 18: 24,799,314 (GRCm39) K183E probably benign Het
Mpl C A 4: 118,301,213 (GRCm39) probably null Het
Mroh9 T A 1: 162,883,250 (GRCm39) T410S probably damaging Het
Notch3 T C 17: 32,375,024 (GRCm39) E430G probably damaging Het
Nsun6 T C 2: 15,034,863 (GRCm39) T252A probably benign Het
Ntrk1 C A 3: 87,698,976 (GRCm39) probably null Het
Nts G T 10: 102,320,921 (GRCm39) T56N probably damaging Het
Nup210l A G 3: 90,092,874 (GRCm39) D1276G probably null Het
Or4c12b G T 2: 89,647,494 (GRCm39) V269F probably damaging Het
Or51a10 C A 7: 103,698,875 (GRCm39) A229S possibly damaging Het
Or5b105 T C 19: 13,079,840 (GRCm39) Y276C probably damaging Het
Osbpl8 A G 10: 111,113,177 (GRCm39) S535G possibly damaging Het
Pax9 A G 12: 56,743,550 (GRCm39) I66V possibly damaging Het
Pja2 A G 17: 64,599,843 (GRCm39) V547A probably damaging Het
Plekhs1 T C 19: 56,465,590 (GRCm39) L185S probably benign Het
Prkdc T A 16: 15,608,540 (GRCm39) probably null Het
Ptgdr2 A T 19: 10,917,785 (GRCm39) T101S possibly damaging Het
Ptprd T C 4: 75,984,496 (GRCm39) D550G probably benign Het
Ptx3 G T 3: 66,128,419 (GRCm39) R160L probably benign Het
Rdh16f1 A C 10: 127,624,714 (GRCm39) E184A probably damaging Het
Rfx3 C T 19: 27,771,072 (GRCm39) E560K possibly damaging Het
Scgb2b24 T C 7: 33,436,779 (GRCm39) Q111R probably benign Het
Spart A G 3: 55,032,315 (GRCm39) D383G probably damaging Het
Stpg3 C A 2: 25,103,333 (GRCm39) R252L probably damaging Het
Tcp11l2 C T 10: 84,449,396 (GRCm39) Q454* probably null Het
Trav10d A G 14: 53,048,780 (GRCm39) Y57C probably damaging Het
Vmn1r170 T A 7: 23,306,321 (GRCm39) M241K possibly damaging Het
Vwa8 T A 14: 79,302,332 (GRCm39) N1000K probably damaging Het
Wdsub1 T C 2: 59,692,045 (GRCm39) E329G probably benign Het
Zdhhc16 G T 19: 41,928,093 (GRCm39) C204F probably damaging Het
Zfp868 T C 8: 70,064,559 (GRCm39) I259V possibly damaging Het
Zranb3 G T 1: 127,920,647 (GRCm39) Q426K probably damaging Het
Other mutations in Wnk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Wnk4 APN 11 101,159,574 (GRCm39) missense possibly damaging 0.47
IGL00535:Wnk4 APN 11 101,155,175 (GRCm39) missense probably damaging 1.00
IGL01401:Wnk4 APN 11 101,167,509 (GRCm39) splice site probably benign
IGL01931:Wnk4 APN 11 101,159,310 (GRCm39) missense possibly damaging 0.94
IGL01977:Wnk4 APN 11 101,156,240 (GRCm39) missense probably damaging 1.00
IGL02165:Wnk4 APN 11 101,166,117 (GRCm39) unclassified probably benign
IGL02197:Wnk4 APN 11 101,154,783 (GRCm39) missense probably damaging 1.00
IGL02457:Wnk4 APN 11 101,160,389 (GRCm39) splice site probably benign
IGL02963:Wnk4 APN 11 101,167,039 (GRCm39) unclassified probably benign
ashamed UTSW 11 101,156,257 (GRCm39) missense probably damaging 1.00
blushing UTSW 11 101,156,203 (GRCm39) missense probably damaging 0.96
Caught_dead UTSW 11 101,155,156 (GRCm39) missense probably damaging 1.00
lowered UTSW 11 101,159,318 (GRCm39) critical splice donor site probably null
mortification UTSW 11 101,154,720 (GRCm39) makesense probably null
shame UTSW 11 101,153,682 (GRCm39) missense probably damaging 1.00
R0066:Wnk4 UTSW 11 101,156,261 (GRCm39) missense probably damaging 1.00
R0317:Wnk4 UTSW 11 101,159,630 (GRCm39) missense probably benign 0.01
R0628:Wnk4 UTSW 11 101,165,849 (GRCm39) missense probably benign 0.10
R0630:Wnk4 UTSW 11 101,156,212 (GRCm39) missense probably damaging 1.00
R0710:Wnk4 UTSW 11 101,164,932 (GRCm39) missense probably benign 0.22
R1290:Wnk4 UTSW 11 101,167,166 (GRCm39) unclassified probably benign
R1482:Wnk4 UTSW 11 101,160,462 (GRCm39) missense probably damaging 0.99
R1775:Wnk4 UTSW 11 101,167,166 (GRCm39) unclassified probably benign
R2005:Wnk4 UTSW 11 101,154,716 (GRCm39) missense probably damaging 1.00
R2229:Wnk4 UTSW 11 101,166,467 (GRCm39) unclassified probably benign
R2258:Wnk4 UTSW 11 101,165,861 (GRCm39) missense probably damaging 0.98
R2323:Wnk4 UTSW 11 101,159,307 (GRCm39) missense probably damaging 0.99
R3081:Wnk4 UTSW 11 101,167,717 (GRCm39) splice site probably benign
R3763:Wnk4 UTSW 11 101,160,114 (GRCm39) missense probably benign 0.00
R4196:Wnk4 UTSW 11 101,160,457 (GRCm39) missense probably damaging 1.00
R4447:Wnk4 UTSW 11 101,159,277 (GRCm39) missense possibly damaging 0.65
R4614:Wnk4 UTSW 11 101,164,937 (GRCm39) missense probably benign 0.00
R4751:Wnk4 UTSW 11 101,167,188 (GRCm39) unclassified probably benign
R4948:Wnk4 UTSW 11 101,159,107 (GRCm39) missense probably damaging 1.00
R5067:Wnk4 UTSW 11 101,153,682 (GRCm39) missense probably damaging 1.00
R5073:Wnk4 UTSW 11 101,152,014 (GRCm39) missense probably damaging 1.00
R5107:Wnk4 UTSW 11 101,166,364 (GRCm39) unclassified probably benign
R5181:Wnk4 UTSW 11 101,156,203 (GRCm39) missense probably damaging 0.96
R5205:Wnk4 UTSW 11 101,155,964 (GRCm39) missense possibly damaging 0.89
R5252:Wnk4 UTSW 11 101,159,574 (GRCm39) missense possibly damaging 0.47
R5273:Wnk4 UTSW 11 101,154,695 (GRCm39) missense probably damaging 1.00
R5293:Wnk4 UTSW 11 101,166,023 (GRCm39) unclassified probably benign
R5609:Wnk4 UTSW 11 101,166,462 (GRCm39) unclassified probably benign
R5915:Wnk4 UTSW 11 101,154,720 (GRCm39) makesense probably null
R5931:Wnk4 UTSW 11 101,152,047 (GRCm39) missense probably damaging 0.99
R6126:Wnk4 UTSW 11 101,167,174 (GRCm39) unclassified probably benign
R6164:Wnk4 UTSW 11 101,165,894 (GRCm39) missense possibly damaging 0.56
R6191:Wnk4 UTSW 11 101,155,156 (GRCm39) missense probably damaging 1.00
R6267:Wnk4 UTSW 11 101,164,824 (GRCm39) missense probably damaging 1.00
R6274:Wnk4 UTSW 11 101,156,257 (GRCm39) missense probably damaging 1.00
R6296:Wnk4 UTSW 11 101,164,824 (GRCm39) missense probably damaging 1.00
R7132:Wnk4 UTSW 11 101,152,026 (GRCm39) missense probably benign 0.22
R7251:Wnk4 UTSW 11 101,155,979 (GRCm39) missense possibly damaging 0.70
R7352:Wnk4 UTSW 11 101,155,244 (GRCm39) missense probably damaging 1.00
R7404:Wnk4 UTSW 11 101,159,318 (GRCm39) critical splice donor site probably null
R7624:Wnk4 UTSW 11 101,155,180 (GRCm39) nonsense probably null
R7634:Wnk4 UTSW 11 101,153,721 (GRCm39) missense probably damaging 1.00
R7780:Wnk4 UTSW 11 101,160,403 (GRCm39) missense probably damaging 0.96
R8006:Wnk4 UTSW 11 101,159,182 (GRCm39) missense probably benign 0.00
R8046:Wnk4 UTSW 11 101,164,918 (GRCm39) missense probably benign 0.20
R8143:Wnk4 UTSW 11 101,153,625 (GRCm39) missense probably damaging 1.00
R8735:Wnk4 UTSW 11 101,167,092 (GRCm39) missense unknown
R9025:Wnk4 UTSW 11 101,153,641 (GRCm39) nonsense probably null
R9206:Wnk4 UTSW 11 101,164,882 (GRCm39) missense probably damaging 1.00
R9295:Wnk4 UTSW 11 101,160,078 (GRCm39) missense probably damaging 0.98
R9610:Wnk4 UTSW 11 101,159,250 (GRCm39) nonsense probably null
R9611:Wnk4 UTSW 11 101,159,250 (GRCm39) nonsense probably null
R9674:Wnk4 UTSW 11 101,166,874 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCCAGGTCTCTTCAAACCCC -3'
(R):5'- AGCCCGCCTTGTTTTCCTAG -3'

Sequencing Primer
(F):5'- GTCTCTTCAAACCCCTATCCACAGG -3'
(R):5'- GAAAGGCTCTCCTGGTCACAAG -3'
Posted On 2020-10-20