Incidental Mutation 'R7624:Wnk4'
ID 589338
Institutional Source Beutler Lab
Gene Symbol Wnk4
Ensembl Gene ENSMUSG00000035112
Gene Name WNK lysine deficient protein kinase 4
Synonyms 2010002J11Rik, Prkwnk4
MMRRC Submission 045689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R7624 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101151393-101168235 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 101155180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 364 (E364*)
Ref Sequence ENSEMBL: ENSMUSP00000099397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042477] [ENSMUST00000100414] [ENSMUST00000103108] [ENSMUST00000128260] [ENSMUST00000139487] [ENSMUST00000147741] [ENSMUST00000170056]
AlphaFold Q80UE6
Predicted Effect probably benign
Transcript: ENSMUST00000042477
SMART Domains Protein: ENSMUSP00000042088
Gene: ENSMUSG00000078656

DomainStartEndE-ValueType
Pfam:ESCRT-II 9 147 1.3e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100414
SMART Domains Protein: ENSMUSP00000097981
Gene: ENSMUSG00000078656

DomainStartEndE-ValueType
Pfam:ESCRT-II 9 144 5e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103108
AA Change: E364*
SMART Domains Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: E364*

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: ENSMUST00000128260
SMART Domains Protein: ENSMUSP00000127718
Gene: ENSMUSG00000001240

DomainStartEndE-ValueType
signal peptide 1 44 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 null
Transcript: ENSMUST00000147741
AA Change: E364*
SMART Domains Protein: ENSMUSP00000131298
Gene: ENSMUSG00000035112
AA Change: E364*

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm C A 9: 53,366,068 (GRCm39) R2533L probably damaging Het
Caprin1 T A 2: 103,603,022 (GRCm39) M514L possibly damaging Het
Ccdc78 A G 17: 26,006,126 (GRCm39) E98G probably damaging Het
Cmya5 A T 13: 93,226,865 (GRCm39) M2741K possibly damaging Het
Cnot1 T G 8: 96,478,447 (GRCm39) R959S probably damaging Het
Col12a1 G T 9: 79,553,076 (GRCm39) probably null Het
Col4a3 A G 1: 82,696,605 (GRCm39) T177A probably benign Het
Cpa3 T C 3: 20,279,307 (GRCm39) N211D possibly damaging Het
Cripto C T 9: 110,775,017 (GRCm39) probably benign Het
Cryba1 T C 11: 77,613,543 (GRCm39) Y36C probably damaging Het
Ctnna1 T A 18: 35,377,897 (GRCm39) I632N probably benign Het
D630045J12Rik T C 6: 38,126,498 (GRCm39) N1504S probably damaging Het
Dgkz C A 2: 91,773,019 (GRCm39) R346L probably damaging Het
Dnajc21 G A 15: 10,461,318 (GRCm39) R211C probably benign Het
Dnajc21 A T 15: 10,461,320 (GRCm39) I210N probably damaging Het
Dscam T C 16: 96,411,524 (GRCm39) D1784G probably damaging Het
Eya3 A G 4: 132,400,262 (GRCm39) T94A probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 T C 9: 15,871,165 (GRCm39) D3742G possibly damaging Het
Ficd T C 5: 113,876,751 (GRCm39) F309L probably benign Het
Gfra1 A T 19: 58,226,878 (GRCm39) M451K probably benign Het
Gm43517 T A 12: 49,437,961 (GRCm39) L318Q Het
Gsc A T 12: 104,439,310 (GRCm39) V22E possibly damaging Het
Il4ra T C 7: 125,168,280 (GRCm39) Y100H probably damaging Het
Ilf3 T C 9: 21,309,340 (GRCm39) S486P probably benign Het
Itga10 T A 3: 96,560,269 (GRCm39) H594Q probably benign Het
Kcnf1 T C 12: 17,226,137 (GRCm39) D28G probably benign Het
Kiss1 A G 1: 133,257,160 (GRCm39) K53R possibly damaging Het
Lcn5 A G 2: 25,551,426 (GRCm39) I182V probably benign Het
Lcorl T C 5: 45,859,307 (GRCm39) D269G probably benign Het
Letm2 A T 8: 26,082,553 (GRCm39) C174* probably null Het
Met T G 6: 17,558,834 (GRCm39) V1154G probably damaging Het
Mindy3 A G 2: 12,424,000 (GRCm39) S22P probably benign Het
Mroh2b G A 15: 4,946,613 (GRCm39) R471Q probably damaging Het
Nfe2l3 T C 6: 51,435,252 (GRCm39) L604P probably damaging Het
Or12e10 A G 2: 87,640,683 (GRCm39) Q173R probably damaging Het
Or14a256 A G 7: 86,265,769 (GRCm39) F28S possibly damaging Het
Or5h18 T A 16: 58,847,382 (GRCm39) Q296L possibly damaging Het
Or8b3b C T 9: 38,583,919 (GRCm39) V274I probably benign Het
Or8u9 A T 2: 86,001,564 (GRCm39) I199N possibly damaging Het
Or9r7 A C 10: 129,962,455 (GRCm39) I157S probably damaging Het
Pcdha9 T A 18: 37,132,849 (GRCm39) Y639* probably null Het
Pom121l2 A T 13: 22,167,699 (GRCm39) I657L probably damaging Het
Prr14l T A 5: 32,986,967 (GRCm39) T843S possibly damaging Het
Rln1 A T 19: 29,309,499 (GRCm39) N93K probably damaging Het
Rpl3l A T 17: 24,951,401 (GRCm39) M101L probably benign Het
Rtkn A G 6: 83,129,158 (GRCm39) Y551C probably benign Het
Rundc1 G C 11: 101,324,305 (GRCm39) R337P possibly damaging Het
Scarf1 T A 11: 75,405,242 (GRCm39) probably null Het
Serpinb1b T A 13: 33,275,622 (GRCm39) probably null Het
Sgsm1 A T 5: 113,422,201 (GRCm39) C484* probably null Het
Slc22a19 T A 19: 7,650,668 (GRCm39) K547* probably null Het
Slc22a19 T C 19: 7,671,183 (GRCm39) T177A probably benign Het
Slc6a5 A C 7: 49,591,614 (GRCm39) K526N probably benign Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Stard9 T C 2: 120,518,627 (GRCm39) I517T probably benign Het
Taf15 A T 11: 83,395,849 (GRCm39) D518V unknown Het
Tenm4 A G 7: 96,545,192 (GRCm39) M2440V possibly damaging Het
Tm6sf1 A G 7: 81,518,458 (GRCm39) M122V possibly damaging Het
Tmprss9 T A 10: 80,728,053 (GRCm39) S548T possibly damaging Het
Trim62 A T 4: 128,777,471 (GRCm39) probably benign Het
Ugt2b34 C T 5: 87,039,141 (GRCm39) V507M possibly damaging Het
Usp16 T A 16: 87,273,693 (GRCm39) M423K probably benign Het
Vmn1r199 T A 13: 22,566,906 (GRCm39) S67T probably benign Het
Vmn1r62 A T 7: 5,678,600 (GRCm39) M94L probably benign Het
Xpo1 T A 11: 23,232,584 (GRCm39) I368N probably damaging Het
Zfp366 A G 13: 99,382,804 (GRCm39) T656A probably benign Het
Zfp934 T C 13: 62,666,338 (GRCm39) M113V probably benign Het
Zkscan2 A G 7: 123,097,994 (GRCm39) V134A 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
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
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'- GCTATTAAGACTCCCTCCGACC -3'
(R):5'- CACCAGGGCATCTTTCTGTCTG -3'

Sequencing Primer
(F):5'- CCCCATATGATATACCCAAGTGGAGG -3'
(R):5'- GGCATCTTTCTGTCTGGCCTG -3'
Posted On 2019-10-24