Incidental Mutation 'R9674:Wnk4'
ID 728251
Institutional Source Beutler Lab
Gene Symbol Wnk4
Ensembl Gene ENSMUSG00000035112
Gene Name WNK lysine deficient protein kinase 4
Synonyms 2010002J11Rik, Prkwnk4
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R9674 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101151393-101168235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101166874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1010 (L1010Q)
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 unknown
Transcript: ENSMUST00000103108
AA Change: L1010Q
SMART Domains Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: L1010Q

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: 99.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A T 3: 59,914,472 (GRCm39) D25V possibly damaging Het
Abca16 A G 7: 120,074,668 (GRCm39) probably null Het
Adam9 T A 8: 25,441,014 (GRCm39) T820S possibly damaging Het
Adamts6 G A 13: 104,563,448 (GRCm39) V647I probably benign Het
Afap1l2 T A 19: 56,922,195 (GRCm39) R14S probably damaging Het
Aff3 C T 1: 38,248,864 (GRCm39) V748I probably damaging Het
Aldh5a1 T C 13: 25,110,038 (GRCm39) I166V probably benign Het
Alx4 G T 2: 93,507,858 (GRCm39) L384F probably damaging Het
Ank3 T A 10: 69,824,549 (GRCm39) S1073T Het
Ankrd50 A G 3: 38,506,574 (GRCm39) C275R unknown Het
Apol11a G A 15: 77,401,347 (GRCm39) S278N possibly damaging Het
Astn2 T A 4: 65,460,963 (GRCm39) D1057V probably damaging Het
Atp11a T C 8: 12,877,525 (GRCm39) V317A probably benign Het
Cacna1i A G 15: 80,264,629 (GRCm39) T1486A probably damaging Het
Cadps A G 14: 12,454,291 (GRCm38) F1076L probably damaging Het
Cct6b T C 11: 82,645,838 (GRCm39) T154A probably damaging Het
Cfap69 A G 5: 5,697,021 (GRCm39) F92L possibly damaging Het
Cyp19a1 A T 9: 54,074,141 (GRCm39) I471K possibly damaging Het
Cyp26a1 T A 19: 37,689,726 (GRCm39) M474K probably damaging Het
Cyp4a12a T C 4: 115,186,156 (GRCm39) S439P probably benign Het
Cyp4f37 T A 17: 32,846,841 (GRCm39) probably null Het
Dgki A G 6: 37,027,157 (GRCm39) Y395H probably damaging Het
Dlg1 T C 16: 31,610,580 (GRCm39) V287A probably damaging Het
Dlx2 C T 2: 71,376,496 (GRCm39) G81S possibly damaging Het
Dnah8 G T 17: 30,998,112 (GRCm39) K3448N possibly damaging Het
Dnhd1 C T 7: 105,363,429 (GRCm39) P3997L probably damaging Het
Drosha C G 15: 12,890,170 (GRCm39) D910E probably damaging Het
Dscam A G 16: 96,442,036 (GRCm39) V1597A probably benign Het
Eif1b A G 9: 120,323,265 (GRCm39) K42E possibly damaging Het
Enpp2 C A 15: 54,816,135 (GRCm39) G10W unknown Het
Exd2 A G 12: 80,536,372 (GRCm39) N334S probably benign Het
Glt6d1 T A 2: 25,684,382 (GRCm39) N208I probably benign Het
Grin2a T A 16: 9,471,265 (GRCm39) K668* probably null Het
Grm1 A G 10: 10,609,028 (GRCm39) V535A possibly damaging Het
H2ac7 A G 13: 23,758,862 (GRCm39) D73G possibly damaging Het
Hey2 A T 10: 30,710,413 (GRCm39) D113E probably benign Het
Ighm T A 12: 113,385,139 (GRCm39) I274F Het
Ighv1-58 G T 12: 115,275,847 (GRCm39) T97K probably damaging Het
Igkv6-20 T C 6: 70,312,852 (GRCm39) H107R possibly damaging Het
Il15 C T 8: 83,069,938 (GRCm39) G42D probably damaging Het
Jakmip2 T A 18: 43,704,961 (GRCm39) M347L probably benign Het
Kcnh7 T C 2: 62,595,060 (GRCm39) Y670C probably damaging Het
Ktn1 G C 14: 47,922,213 (GRCm39) C458S possibly damaging Het
Lama5 C T 2: 179,840,267 (GRCm39) probably null Het
Lce1i T C 3: 92,685,113 (GRCm39) Q21R unknown Het
Lmo7 A T 14: 102,078,340 (GRCm39) E81D probably damaging Het
Lrrc4b A T 7: 44,111,852 (GRCm39) I575F probably damaging Het
Mmrn1 C T 6: 60,948,072 (GRCm39) Q272* probably null Het
Nbea A T 3: 55,966,183 (GRCm39) D426E probably damaging Het
Neto1 G A 18: 86,491,827 (GRCm39) V243M probably damaging Het
Notch1 G A 2: 26,361,308 (GRCm39) R1061C probably damaging Het
Or5g25 T G 2: 85,478,593 (GRCm39) Q24P possibly damaging Het
Or5p67 A T 7: 107,922,271 (GRCm39) I204N probably benign Het
Osgin1 A G 8: 120,172,499 (GRCm39) D431G possibly damaging Het
Ppp4r1 A G 17: 66,140,127 (GRCm39) D675G probably damaging Het
Pramel25 T A 4: 143,520,162 (GRCm39) H135Q probably benign Het
Prkdc T A 16: 15,533,819 (GRCm39) H1552Q probably damaging Het
Rbfox1 T C 16: 7,170,885 (GRCm39) F282L probably benign Het
Ret T C 6: 118,130,830 (GRCm39) D1111G probably damaging Het
Rnf224 A T 2: 25,126,330 (GRCm39) Y8N probably benign Het
Rtl1 G T 12: 109,559,024 (GRCm39) H938Q possibly damaging Het
Sec23ip T G 7: 128,380,187 (GRCm39) D867E probably damaging Het
Sema3f A T 9: 107,566,947 (GRCm39) L194Q possibly damaging Het
Sfmbt1 C T 14: 30,495,851 (GRCm39) R45C probably damaging Het
Slc7a4 T C 16: 17,392,208 (GRCm39) I409V probably benign Het
Slco6c1 T A 1: 97,047,565 (GRCm39) D246V probably damaging Het
Smap2 C T 4: 120,826,745 (GRCm39) M426I probably benign Het
Spata31h1 C T 10: 82,120,030 (GRCm39) V4327I possibly damaging Het
Tmem184b T A 15: 79,249,524 (GRCm39) T315S probably benign Het
Trpm4 A T 7: 44,982,811 (GRCm39) D30E possibly damaging Het
Ttc7b T A 12: 100,432,553 (GRCm39) K154N probably benign Het
Vps13b T A 15: 35,607,380 (GRCm39) H1104Q probably damaging Het
Xpo6 T A 7: 125,723,700 (GRCm39) H537L probably benign Het
Xrn1 A T 9: 95,855,645 (GRCm39) Y314F probably damaging Het
Xrn1 A T 9: 95,855,647 (GRCm39) I315F possibly damaging Het
Zap70 T C 1: 36,810,150 (GRCm39) Y87H probably benign Het
Zbtb4 T C 11: 69,669,973 (GRCm39) Y899H probably damaging Het
Zcchc7 T A 4: 44,931,418 (GRCm39) H202Q possibly damaging Het
Zeb2 A G 2: 44,891,725 (GRCm39) Y276H probably damaging Het
Zfp867 T G 11: 59,355,850 (GRCm39) Q68P probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGCCCCAGTGCCTTACATTC -3'
(R):5'- TTTCATCATCGACCGCAACC -3'

Sequencing Primer
(F):5'- AGTGCCTTACATTCTGCTAGATC -3'
(R):5'- AACCCCCAGGCCTTCGG -3'
Posted On 2022-10-06