Incidental Mutation 'R7132:Wnk4'
ID 552764
Institutional Source Beutler Lab
Gene Symbol Wnk4
Ensembl Gene ENSMUSG00000035112
Gene Name WNK lysine deficient protein kinase 4
Synonyms 2010002J11Rik, Prkwnk4
MMRRC Submission 045217-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R7132 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101151393-101168235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101152026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 177 (I177V)
Ref Sequence ENSEMBL: ENSMUSP00000099397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007533] [ENSMUST00000042477] [ENSMUST00000100414] [ENSMUST00000103108] [ENSMUST00000107280] [ENSMUST00000121331] [ENSMUST00000128260] [ENSMUST00000139487] [ENSMUST00000144306] [ENSMUST00000147741] [ENSMUST00000170056]
AlphaFold Q80UE6
Predicted Effect probably benign
Transcript: ENSMUST00000007533
SMART Domains Protein: ENSMUSP00000007533
Gene: ENSMUSG00000078656

DomainStartEndE-ValueType
Pfam:ESCRT-II 10 147 1e-55 PFAM
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 benign
Transcript: ENSMUST00000103108
AA Change: I177V

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: I177V

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: ENSMUST00000107280
SMART Domains Protein: ENSMUSP00000102901
Gene: ENSMUSG00000078656

DomainStartEndE-ValueType
Pfam:ESCRT-II 10 153 7.2e-56 PFAM
low complexity region 155 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121331
SMART Domains Protein: ENSMUSP00000114100
Gene: ENSMUSG00000078656

DomainStartEndE-ValueType
Pfam:ESCRT-II 1 99 1.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128260
SMART Domains Protein: ENSMUSP00000127718
Gene: ENSMUSG00000001240

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000139487
AA Change: I177V

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129666
Gene: ENSMUSG00000035112
AA Change: I177V

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: ENSMUST00000144306
SMART Domains Protein: ENSMUSP00000131026
Gene: ENSMUSG00000078656

DomainStartEndE-ValueType
Pfam:ESCRT-II 9 91 2.5e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147741
AA Change: I177V

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131298
Gene: ENSMUSG00000035112
AA Change: I177V

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: 99.7%
  • 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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 C T 10: 69,825,744 (GRCm39) A1471V Het
Ankrd12 C A 17: 66,290,242 (GRCm39) M1730I probably benign Het
Ap2a2 T C 7: 141,199,478 (GRCm39) Y462H probably benign Het
Ap5b1 T A 19: 5,619,412 (GRCm39) Y277* probably null Het
App T C 16: 84,853,370 (GRCm39) D236G unknown Het
Arid2 A T 15: 96,247,894 (GRCm39) K102I possibly damaging Het
Asl A G 5: 130,043,543 (GRCm39) V211A possibly damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cbx2 A G 11: 118,913,947 (GRCm39) S5G probably benign Het
Ccdc183 A G 2: 25,506,542 (GRCm39) probably null Het
Cd72 T C 4: 43,452,444 (GRCm39) Q183R possibly damaging Het
Cdh26 T A 2: 178,128,555 (GRCm39) D702E possibly damaging Het
Cfap61 A T 2: 145,951,870 (GRCm39) N784I probably damaging Het
Cgrrf1 G A 14: 47,091,321 (GRCm39) V282M probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cobll1 T G 2: 64,964,112 (GRCm39) K170Q probably damaging Het
Copg2 A T 6: 30,792,931 (GRCm39) V468D probably benign Het
Cracr2b C T 7: 141,043,651 (GRCm39) A84V probably benign Het
Cyp2f2 A T 7: 26,831,993 (GRCm39) D416V probably benign Het
Dcaf10 T C 4: 45,342,391 (GRCm39) F75S probably benign Het
Eml3 G T 19: 8,918,392 (GRCm39) A829S probably benign Het
Entpd3 A G 9: 120,390,086 (GRCm39) T402A probably benign Het
Fer1l4 A T 2: 155,887,546 (GRCm39) V550E probably damaging Het
Fgb G A 3: 82,954,053 (GRCm39) R62* probably null Het
Fubp1 T A 3: 151,937,661 (GRCm39) probably null Het
Gdf3 A C 6: 122,583,283 (GRCm39) D361E probably damaging Het
Gm6685 A T 11: 28,289,330 (GRCm39) I162N probably damaging Het
Hmx2 A G 7: 131,157,645 (GRCm39) Y253C probably damaging Het
Ints2 G T 11: 86,108,580 (GRCm39) N922K probably benign Het
Ipo7 C T 7: 109,653,254 (GRCm39) L984F probably benign Het
Itgae A T 11: 73,002,184 (GRCm39) Y96F possibly damaging Het
Kalrn A G 16: 34,076,597 (GRCm39) V697A unknown Het
Kctd18 G A 1: 58,006,737 (GRCm39) R38* probably null Het
Kdm5b A G 1: 134,526,844 (GRCm39) D322G probably damaging Het
Ldb3 A G 14: 34,298,992 (GRCm39) Y211H probably benign Het
Limch1 T C 5: 67,111,028 (GRCm39) F85S probably damaging Het
Lrrn4 A T 2: 132,721,613 (GRCm39) L68* probably null Het
Lrwd1 A G 5: 136,152,129 (GRCm39) V616A possibly damaging Het
Nars1 A G 18: 64,640,841 (GRCm39) probably null Het
Nradd T C 9: 110,451,329 (GRCm39) D13G probably benign Het
Oacyl A T 18: 65,831,480 (GRCm39) N39I probably damaging Het
Onecut2 A T 18: 64,473,983 (GRCm39) H178L possibly damaging Het
Or9i14 T A 19: 13,792,786 (GRCm39) Q56L probably benign Het
Pcdhga4 A C 18: 37,820,430 (GRCm39) T660P probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,942,102 (GRCm39) I902F possibly damaging Het
Plod3 T C 5: 137,023,971 (GRCm39) L180S Het
Prrc2c A T 1: 162,508,850 (GRCm39) H2354Q possibly damaging Het
Pth2r A G 1: 65,361,225 (GRCm39) E58G probably benign Het
Rev1 G T 1: 38,110,530 (GRCm39) D573E possibly damaging Het
Sec24a A T 11: 51,605,963 (GRCm39) L696* probably null Het
Serpinb3c A G 1: 107,204,681 (GRCm39) S22P probably damaging Het
St18 A T 1: 6,929,351 (GRCm39) H81L Het
Stard9 A T 2: 120,509,859 (GRCm39) K266* probably null Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Tcp10a C T 17: 7,612,351 (GRCm39) T381I probably benign Het
Tecpr2 T A 12: 110,881,806 (GRCm39) V125D probably damaging Het
Tmc2 T C 2: 130,074,329 (GRCm39) S341P possibly damaging Het
Tmem190 G A 7: 4,787,224 (GRCm39) V143I probably benign Het
Trap1 A G 16: 3,873,693 (GRCm39) Y288H probably benign Het
Trim39 T C 17: 36,571,547 (GRCm39) T404A probably benign Het
Ttn T A 2: 76,576,043 (GRCm39) K24950I probably damaging Het
Ttn G T 2: 76,774,696 (GRCm39) N2161K unknown Het
Unc13b T C 4: 43,215,757 (GRCm39) S19P probably benign Het
Uqcrc1 T A 9: 108,778,536 (GRCm39) I471N probably damaging Het
Wbp11 T C 6: 136,798,540 (GRCm39) T170A probably benign Het
Zfp455 C A 13: 67,347,230 (GRCm39) P51T probably damaging Het
Zfp946 T C 17: 22,673,644 (GRCm39) Y133H probably benign Het
Zfp955a A T 17: 33,460,589 (GRCm39) Y514* probably null Het
Zzef1 T C 11: 72,808,697 (GRCm39) probably null 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
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
R9674:Wnk4 UTSW 11 101,166,874 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGTCCTGAGCTTACGGGATC -3'
(R):5'- TCAGTACAATCATGCCGGCAAG -3'

Sequencing Primer
(F):5'- CCTGAGCTTACGGGATCTTCAG -3'
(R):5'- TCATGCCGGCAAGGAAAGC -3'
Posted On 2019-05-15