Incidental Mutation 'R7780:Wnk4'
ID 599179
Institutional Source Beutler Lab
Gene Symbol Wnk4
Ensembl Gene ENSMUSG00000035112
Gene Name WNK lysine deficient protein kinase 4
Synonyms 2010002J11Rik, Prkwnk4
MMRRC Submission 045836-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R7780 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101151393-101168235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101160403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 679 (D679G)
Ref Sequence ENSEMBL: ENSMUSP00000099397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103108] [ENSMUST00000139487] [ENSMUST00000147741] [ENSMUST00000170056]
AlphaFold Q80UE6
Predicted Effect probably damaging
Transcript: ENSMUST00000103108
AA Change: D679G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: D679G

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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,294,432 (GRCm39) R389K possibly damaging Het
Ahnak2 C T 12: 112,746,716 (GRCm39) V1205M Het
Ccr3 A G 9: 123,828,989 (GRCm39) Y108C probably benign Het
Cers5 T G 15: 99,637,589 (GRCm39) H220P probably damaging Het
Cfap61 A T 2: 145,995,692 (GRCm39) N1086Y possibly damaging Het
Cip2a T A 16: 48,822,023 (GRCm39) L217* probably null Het
Clstn3 T C 6: 124,439,161 (GRCm39) E32G probably damaging Het
Cox20 T C 1: 178,149,566 (GRCm39) C72R probably benign Het
Csf1 A T 3: 107,657,709 (GRCm39) N154K probably damaging Het
Cyp2j7 T A 4: 96,118,256 (GRCm39) K112N probably benign Het
Drosha A G 15: 12,848,172 (GRCm39) D488G probably benign Het
Edem1 A G 6: 108,818,589 (GRCm39) K199R probably benign Het
Esyt2 T C 12: 116,305,718 (GRCm39) I316T probably benign Het
Evpl C T 11: 116,125,000 (GRCm39) R154H not run Het
Fbn1 A G 2: 125,143,678 (GRCm39) L2817P probably benign Het
Fbxo42 T A 4: 140,921,131 (GRCm39) probably null Het
Fbxo43 T C 15: 36,162,358 (GRCm39) D283G probably damaging Het
Fdxr A T 11: 115,167,656 (GRCm39) S20T probably benign Het
Fkbp10 T C 11: 100,312,048 (GRCm39) Y203H probably damaging Het
Galntl6 C T 8: 58,880,733 (GRCm39) probably null Het
Gask1b G A 3: 79,848,711 (GRCm39) G486S probably damaging Het
Gm26657 C A 4: 56,741,056 (GRCm39) Y80* probably null Het
Gm973 T A 1: 59,597,289 (GRCm39) W440R probably damaging Het
Helz T A 11: 107,528,689 (GRCm39) F903Y probably damaging Het
Iqcf4 T A 9: 106,445,860 (GRCm39) I96F possibly damaging Het
Kcnq5 T A 1: 22,031,555 (GRCm39) Q84L probably benign Het
Krit1 G A 5: 3,862,772 (GRCm39) G254S probably damaging Het
Krtap6-2 A T 16: 89,216,510 (GRCm39) Y152* probably null Het
Loricrin A T 3: 91,988,460 (GRCm39) Y275* probably null Het
Map4 T C 9: 109,863,720 (GRCm39) I315T probably benign Het
Mcpt1 T A 14: 56,256,609 (GRCm39) probably null Het
Mdh1b C A 1: 63,759,133 (GRCm39) S153I possibly damaging Het
Mfsd12 C A 10: 81,193,718 (GRCm39) A96E probably benign Het
Mki67 T C 7: 135,315,697 (GRCm39) E55G probably benign Het
Mterf4 T C 1: 93,232,689 (GRCm39) E54G probably benign Het
Mucl3 A G 17: 35,947,874 (GRCm39) S452P possibly damaging Het
Nuggc T A 14: 65,882,490 (GRCm39) I745N probably damaging Het
Or6k6 T C 1: 173,945,115 (GRCm39) I156V probably benign Het
Or7g18 A G 9: 18,786,910 (GRCm39) T93A possibly damaging Het
Parg A T 14: 31,930,758 (GRCm39) N126I possibly damaging Het
Pcdh9 T C 14: 94,123,987 (GRCm39) I728V possibly damaging Het
Pcdha1 C G 18: 37,065,511 (GRCm39) P725R probably benign Het
Pcdha11 T A 18: 37,145,849 (GRCm39) L647M probably damaging Het
Phb2 T C 6: 124,692,995 (GRCm39) probably null Het
Plb1 A G 5: 32,483,610 (GRCm39) probably null Het
Pmch T A 10: 87,927,113 (GRCm39) F39I probably benign Het
Psmd7 A T 8: 108,307,920 (GRCm39) S188T possibly damaging Het
Pycr2 T A 1: 180,733,913 (GRCm39) D168E probably damaging Het
Rab43 A G 6: 87,771,692 (GRCm39) Y96H probably damaging Het
Ralgapa2 C T 2: 146,184,334 (GRCm39) G1511S probably benign Het
Rb1cc1 T A 1: 6,319,138 (GRCm39) C852* probably null Het
Rexo2 T C 9: 48,380,145 (GRCm39) N229S probably damaging Het
Sema4f A G 6: 82,890,941 (GRCm39) V622A possibly damaging Het
Serpina10 T C 12: 103,594,806 (GRCm39) S138G probably benign Het
Sptbn4 T A 7: 27,061,059 (GRCm39) T2415S possibly damaging Het
Tbc1d22b A G 17: 29,792,040 (GRCm39) N257D probably benign Het
Tbl3 A G 17: 24,921,205 (GRCm39) F529L probably damaging Het
Them6 A T 15: 74,593,427 (GRCm39) N95I probably benign Het
Thrb T C 14: 18,008,608 (GRCm38) S156P possibly damaging Het
Tmem186 G A 16: 8,453,731 (GRCm39) R177C probably benign Het
Ttn T A 2: 76,660,937 (GRCm39) probably null Het
Unc13a T A 8: 72,110,979 (GRCm39) I411F probably benign Het
Uqcc1 T C 2: 155,752,073 (GRCm39) probably null Het
Vmn1r56 T C 7: 5,199,516 (GRCm39) T34A possibly damaging Het
Vps39 A T 2: 120,155,680 (GRCm39) Y542* probably null Het
Wdr64 T C 1: 175,556,542 (GRCm39) L263P probably damaging Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Wfdc16 A G 2: 164,477,785 (GRCm39) M88T probably benign Het
Ykt6 T C 11: 5,912,751 (GRCm39) I151T probably benign Het
Zbtb46 A G 2: 181,033,225 (GRCm39) C479R probably damaging Het
Zc3h7a A G 16: 10,967,115 (GRCm39) I559T probably benign Het
Zfhx3 A G 8: 109,678,283 (GRCm39) N3111S possibly damaging Het
Zfp619 T C 7: 39,184,432 (GRCm39) V154A possibly damaging Het
Zfp629 A T 7: 127,211,601 (GRCm39) D69E probably benign Het
Zfp882 T A 8: 72,668,073 (GRCm39) I300N possibly damaging Het
Zfp934 T C 13: 62,666,358 (GRCm39) H106R possibly damaging Het
Zfta T C 19: 7,399,737 (GRCm39) S495P probably damaging Het
Zfyve9 G A 4: 108,576,298 (GRCm39) T261I possibly 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
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
R8458:Wnk4 UTSW 11 101,166,147 (GRCm39) nonsense probably null
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'- TGTCCTGTGTGACTGACATC -3'
(R):5'- CAGTGTTTATACGCCCTTGCTG -3'

Sequencing Primer
(F):5'- CATCTAGTCTAGTTTCAATGCCAGAC -3'
(R):5'- GGTCAGTGTATAAATGTCAGCACC -3'
Posted On 2019-11-26