Incidental Mutation 'IGL01931:Wnk4'
ID 180425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnk4
Ensembl Gene ENSMUSG00000035112
Gene Name WNK lysine deficient protein kinase 4
Synonyms 2010002J11Rik, Prkwnk4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # IGL01931
Quality Score
Status
Chromosome 11
Chromosomal Location 101151393-101168235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101159310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 139 (T139A)
Ref Sequence ENSEMBL: ENSMUSP00000132123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103108] [ENSMUST00000139487] [ENSMUST00000147741] [ENSMUST00000170056]
AlphaFold Q80UE6
Predicted Effect probably benign
Transcript: ENSMUST00000103108
AA Change: T576A

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099397
Gene: ENSMUSG00000035112
AA Change: T576A

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 noncoding transcript
Transcript: ENSMUST00000156205
Predicted Effect possibly damaging
Transcript: ENSMUST00000170056
AA Change: T139A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132123
Gene: ENSMUSG00000035112
AA Change: T139A

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik A G 7: 124,917,869 (GRCm39) E87G unknown Het
Ano2 A G 6: 125,959,708 (GRCm39) Y656C probably damaging Het
Cckbr T C 7: 105,075,310 (GRCm39) S27P probably benign Het
Celsr1 T A 15: 85,791,861 (GRCm39) N2580I probably damaging Het
Cfap221 A G 1: 119,860,625 (GRCm39) L667P probably damaging Het
Col16a1 T C 4: 129,966,634 (GRCm39) C555R possibly damaging Het
Dync2h1 A G 9: 7,114,973 (GRCm39) V162A probably damaging Het
Dync2h1 G A 9: 7,011,207 (GRCm39) S3669L probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm4922 A G 10: 18,660,042 (GRCm39) S227P probably benign Het
Grin2c A G 11: 115,144,736 (GRCm39) F597L probably damaging Het
Hook3 G A 8: 26,578,083 (GRCm39) probably benign Het
Ltv1 A G 10: 13,061,245 (GRCm39) I106T probably damaging Het
Mdc1 T C 17: 36,159,123 (GRCm39) V501A probably benign Het
Myo15a T A 11: 60,386,964 (GRCm39) C667S probably damaging Het
Myom3 T C 4: 135,516,950 (GRCm39) V840A probably benign Het
Naip1 G T 13: 100,545,540 (GRCm39) C1329* probably null Het
Oas1c A C 5: 120,943,560 (GRCm39) I193S probably benign Het
Osbp2 C T 11: 3,655,388 (GRCm39) probably null Het
Phf1 T C 17: 27,154,509 (GRCm39) probably benign Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppox T C 1: 171,105,456 (GRCm39) Q302R probably null Het
Sec24b G A 3: 129,803,448 (GRCm39) P305S probably benign Het
Spink5 A T 18: 44,148,705 (GRCm39) I923F probably benign Het
Thsd7a A T 6: 12,504,098 (GRCm39) V352E probably damaging Het
Tpi1 A G 6: 124,789,603 (GRCm39) V152A possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdfy4 C T 14: 32,877,710 (GRCm39) G85S probably damaging Het
Zfp345 T C 2: 150,315,270 (GRCm39) H89R 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
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
R9674:Wnk4 UTSW 11 101,166,874 (GRCm39) missense unknown
Posted On 2014-05-07