Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Wnk1'

357908

Institutional Source

Beutler Lab

Gene Symbol

Wnk1

Ensembl Gene

ENSMUSG00000045962

Gene Name

WNK lysine deficient protein kinase 1

Synonyms

Prkwnk1, 6430573H23Rik, EG406236, Hsn2

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119900930-120015633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119940431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 769 (A769S)

Ref Sequence

ENSEMBL: ENSMUSP00000086017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060043] [ENSMUST00000088644] [ENSMUST00000088646] [ENSMUST00000160686] [ENSMUST00000161512] [ENSMUST00000177761] [ENSMUST00000203030]

AlphaFold

P83741

Predicted Effect

probably benign
Transcript: ENSMUST00000060043

SMART Domains

Protein: ENSMUSP00000063001
Gene: ENSMUSG00000045962

Domain	Start	End	E-Value	Type
low complexity region	101	115	N/A	INTRINSIC
low complexity region	127	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
Pfam:Pkinase_Tyr	221	477	1.5e-44	PFAM
Pfam:Pkinase	221	479	4.4e-58	PFAM
Pfam:OSR1_C	500	537	2e-22	PFAM
coiled coil region	563	597	N/A	INTRINSIC
low complexity region	734	746	N/A	INTRINSIC
low complexity region	865	876	N/A	INTRINSIC
low complexity region	1018	1028	N/A	INTRINSIC
low complexity region	1042	1058	N/A	INTRINSIC
internal_repeat_1	1136	1178	2.15e-5	PROSPERO
low complexity region	1289	1305	N/A	INTRINSIC
low complexity region	1345	1357	N/A	INTRINSIC
low complexity region	1379	1396	N/A	INTRINSIC
low complexity region	1398	1428	N/A	INTRINSIC
low complexity region	1429	1454	N/A	INTRINSIC
low complexity region	1496	1515	N/A	INTRINSIC
low complexity region	1542	1556	N/A	INTRINSIC
low complexity region	1586	1609	N/A	INTRINSIC
low complexity region	1670	1691	N/A	INTRINSIC
low complexity region	1698	1712	N/A	INTRINSIC
low complexity region	1738	1764	N/A	INTRINSIC
low complexity region	1882	1900	N/A	INTRINSIC
coiled coil region	2065	2092	N/A	INTRINSIC
low complexity region	2103	2114	N/A	INTRINSIC
low complexity region	2116	2140	N/A	INTRINSIC
low complexity region	2208	2232	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000088644
AA Change: A769S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086017
Gene: ENSMUSG00000045962
AA Change: A769S

Domain	Start	End	E-Value	Type
low complexity region	101	115	N/A	INTRINSIC
low complexity region	127	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
Pfam:Pkinase_Tyr	221	477	5.5e-44	PFAM
Pfam:Pkinase	221	479	4.3e-56	PFAM
Pfam:OSR1_C	500	537	1.9e-22	PFAM
coiled coil region	563	597	N/A	INTRINSIC
low complexity region	742	753	N/A	INTRINSIC
low complexity region	919	935	N/A	INTRINSIC
low complexity region	1050	1063	N/A	INTRINSIC
low complexity region	1067	1076	N/A	INTRINSIC
low complexity region	1146	1158	N/A	INTRINSIC
low complexity region	1276	1286	N/A	INTRINSIC
low complexity region	1300	1316	N/A	INTRINSIC
internal_repeat_1	1394	1436	2.19e-5	PROSPERO
low complexity region	1547	1563	N/A	INTRINSIC
low complexity region	1603	1615	N/A	INTRINSIC
low complexity region	1637	1654	N/A	INTRINSIC
low complexity region	1656	1686	N/A	INTRINSIC
low complexity region	1687	1712	N/A	INTRINSIC
low complexity region	1754	1773	N/A	INTRINSIC
low complexity region	1800	1814	N/A	INTRINSIC
low complexity region	1844	1867	N/A	INTRINSIC
low complexity region	1928	1949	N/A	INTRINSIC
low complexity region	1956	1970	N/A	INTRINSIC
low complexity region	1996	2022	N/A	INTRINSIC
low complexity region	2140	2158	N/A	INTRINSIC
coiled coil region	2323	2350	N/A	INTRINSIC
low complexity region	2361	2372	N/A	INTRINSIC
low complexity region	2374	2398	N/A	INTRINSIC
low complexity region	2466	2490	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088646

SMART Domains

Protein: ENSMUSP00000086019
Gene: ENSMUSG00000045962

Domain	Start	End	E-Value	Type
low complexity region	101	115	N/A	INTRINSIC
low complexity region	127	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
Pfam:Pkinase_Tyr	221	477	1.3e-44	PFAM
Pfam:Pkinase	221	479	4e-58	PFAM
Pfam:OSR1_C	500	537	1.8e-22	PFAM
coiled coil region	563	597	N/A	INTRINSIC
low complexity region	734	746	N/A	INTRINSIC
low complexity region	864	874	N/A	INTRINSIC
low complexity region	888	904	N/A	INTRINSIC
internal_repeat_1	982	1024	7.56e-6	PROSPERO
low complexity region	1135	1151	N/A	INTRINSIC
low complexity region	1191	1203	N/A	INTRINSIC
low complexity region	1225	1242	N/A	INTRINSIC
low complexity region	1244	1274	N/A	INTRINSIC
low complexity region	1275	1300	N/A	INTRINSIC
low complexity region	1342	1361	N/A	INTRINSIC
low complexity region	1388	1402	N/A	INTRINSIC
low complexity region	1432	1455	N/A	INTRINSIC
low complexity region	1516	1537	N/A	INTRINSIC
low complexity region	1544	1558	N/A	INTRINSIC
low complexity region	1584	1610	N/A	INTRINSIC
low complexity region	1700	1718	N/A	INTRINSIC
coiled coil region	1883	1910	N/A	INTRINSIC
low complexity region	1921	1932	N/A	INTRINSIC
low complexity region	1934	1958	N/A	INTRINSIC
low complexity region	2026	2050	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159397

Predicted Effect

probably benign
Transcript: ENSMUST00000160686

SMART Domains

Protein: ENSMUSP00000137334
Gene: ENSMUSG00000045962

Domain	Start	End	E-Value	Type
low complexity region	102	115	N/A	INTRINSIC
low complexity region	119	128	N/A	INTRINSIC
low complexity region	198	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160769

Predicted Effect

probably benign
Transcript: ENSMUST00000161048

SMART Domains

Protein: ENSMUSP00000125345
Gene: ENSMUSG00000045962

Domain	Start	End	E-Value	Type
Blast:S_TKc	2	68	3e-34	BLAST
SCOP:d1phk__	3	70	2e-7	SMART
Pfam:OSR1_C	89	126	9.5e-21	PFAM
coiled coil region	151	185	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161512
AA Change: A67S

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136086
Gene: ENSMUSG00000045962
AA Change: A67S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	40	51	N/A	INTRINSIC
low complexity region	217	233	N/A	INTRINSIC
low complexity region	348	361	N/A	INTRINSIC
low complexity region	365	374	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000177761
AA Change: A855S

SMART Domains

Protein: ENSMUSP00000136777
Gene: ENSMUSG00000045962
AA Change: A855S

Domain	Start	End	E-Value	Type
low complexity region	101	115	N/A	INTRINSIC
low complexity region	127	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
Pfam:Pkinase_Tyr	221	477	1.7e-44	PFAM
Pfam:Pkinase	221	479	5.1e-58	PFAM
Pfam:OSR1_C	500	537	2.2e-22	PFAM
coiled coil region	563	597	N/A	INTRINSIC
low complexity region	710	722	N/A	INTRINSIC
low complexity region	828	839	N/A	INTRINSIC
low complexity region	1005	1021	N/A	INTRINSIC
low complexity region	1136	1149	N/A	INTRINSIC
low complexity region	1153	1162	N/A	INTRINSIC
low complexity region	1232	1244	N/A	INTRINSIC
low complexity region	1291	1307	N/A	INTRINSIC
internal_repeat_1	1385	1427	1.91e-5	PROSPERO
low complexity region	1538	1554	N/A	INTRINSIC
low complexity region	1594	1606	N/A	INTRINSIC
low complexity region	1628	1645	N/A	INTRINSIC
low complexity region	1647	1677	N/A	INTRINSIC
low complexity region	1678	1703	N/A	INTRINSIC
low complexity region	1745	1764	N/A	INTRINSIC
low complexity region	1791	1805	N/A	INTRINSIC
low complexity region	1835	1858	N/A	INTRINSIC
low complexity region	1919	1940	N/A	INTRINSIC
low complexity region	1947	1961	N/A	INTRINSIC
low complexity region	1987	2013	N/A	INTRINSIC
low complexity region	2131	2149	N/A	INTRINSIC
coiled coil region	2314	2341	N/A	INTRINSIC
low complexity region	2352	2363	N/A	INTRINSIC
low complexity region	2365	2389	N/A	INTRINSIC
low complexity region	2457	2481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203030

SMART Domains

Protein: ENSMUSP00000145304
Gene: ENSMUSG00000045962

Domain	Start	End	E-Value	Type
low complexity region	101	115	N/A	INTRINSIC
low complexity region	127	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
Pfam:Pkinase_Tyr	221	477	4.1e-44	PFAM
Pfam:Pkinase	221	479	3.2e-56	PFAM
Pfam:OSR1_C	500	537	1.5e-22	PFAM
coiled coil region	563	597	N/A	INTRINSIC
low complexity region	734	746	N/A	INTRINSIC
low complexity region	793	809	N/A	INTRINSIC
internal_repeat_1	887	929	5.8e-6	PROSPERO
low complexity region	1040	1056	N/A	INTRINSIC
low complexity region	1096	1108	N/A	INTRINSIC
low complexity region	1130	1147	N/A	INTRINSIC
low complexity region	1149	1179	N/A	INTRINSIC
low complexity region	1180	1205	N/A	INTRINSIC
low complexity region	1247	1266	N/A	INTRINSIC
low complexity region	1293	1307	N/A	INTRINSIC
low complexity region	1337	1360	N/A	INTRINSIC
low complexity region	1421	1442	N/A	INTRINSIC
low complexity region	1449	1463	N/A	INTRINSIC
low complexity region	1489	1515	N/A	INTRINSIC
low complexity region	1633	1651	N/A	INTRINSIC
coiled coil region	1816	1843	N/A	INTRINSIC
low complexity region	1854	1865	N/A	INTRINSIC
low complexity region	1867	1891	N/A	INTRINSIC
low complexity region	1959	1983	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162368

SMART Domains

Protein: ENSMUSP00000125383
Gene: ENSMUSG00000045962

Domain	Start	End	E-Value	Type
low complexity region	83	95	N/A	INTRINSIC
low complexity region	142	158	N/A	INTRINSIC

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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 subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,733,280 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	T	3: 59,843,735 (GRCm39)	A143V	probably benign	Het
Accs	T	C	2: 93,671,682 (GRCm39)	E236G	probably damaging	Het
Agrn	C	T	4: 156,257,979 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Akap5	C	A	12: 76,374,581 (GRCm39)	C4*	probably null	Het
Amotl2	A	T	9: 102,597,679 (GRCm39)	H146L	probably damaging	Het
Ank1	A	G	8: 23,594,990 (GRCm39)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,403,509 (GRCm39)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,161,614 (GRCm39)	M582K	probably benign	Het
Brca2	T	A	5: 150,483,452 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdk5rap2	A	G	4: 70,156,662 (GRCm39)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,367,379 (GRCm39)	M37L	probably benign	Het
Cenpk	A	T	13: 104,386,020 (GRCm39)	H305L	probably benign	Het
Ces5a	C	A	8: 94,262,305 (GRCm39)	A11S	probably benign	Het
Cfap65	T	C	1: 74,967,520 (GRCm39)	E186G	probably damaging	Het
Cfh	T	A	1: 140,016,546 (GRCm39)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,327,726 (GRCm39)	V961I	probably benign	Het
Cog5	T	A	12: 31,919,405 (GRCm39)		probably null	Het
Col4a4	T	C	1: 82,518,895 (GRCm39)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,652,316 (GRCm39)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,824,809 (GRCm39)	N655S	probably benign	Het
Dnai1	C	G	4: 41,610,269 (GRCm39)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,407,996 (GRCm39)	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,194,016 (GRCm39)	D960V	probably damaging	Het
Fam167b	C	T	4: 129,472,135 (GRCm39)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,515,066 (GRCm39)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,512,060 (GRCm39)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,655,794 (GRCm39)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,716,374 (GRCm39)	D71G	probably damaging	Het
Folr2	T	C	7: 101,493,006 (GRCm39)	T6A	possibly damaging	Het
Fry	A	C	5: 150,321,719 (GRCm39)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,320,193 (GRCm39)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,441,676 (GRCm39)	Y85C	probably damaging	Het
Gpld1	A	T	13: 25,163,671 (GRCm39)	Y43F	probably benign	Het
Gpld1	T	A	13: 25,163,675 (GRCm39)	Y44*	probably null	Het
Grid2	A	G	6: 63,885,972 (GRCm39)	T123A	probably benign	Het
Grina	T	C	15: 76,133,442 (GRCm39)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,002,102 (GRCm39)	A659V	probably benign	Het
H2-T10	T	A	17: 36,429,837 (GRCm39)	K319*	probably null	Het
Hey2	A	T	10: 30,710,300 (GRCm39)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,587,178 (GRCm39)	T13I	probably benign	Het
Il1rap	C	A	16: 26,541,532 (GRCm39)	A591E	probably benign	Het
Ildr1	T	C	16: 36,542,383 (GRCm39)	L261P	probably benign	Het
Jak1	A	G	4: 101,031,354 (GRCm39)	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,159,285 (GRCm39)	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,361,028 (GRCm39)	T592S	probably benign	Het
Lrrc36	A	G	8: 106,178,776 (GRCm39)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,434,806 (GRCm39)	S29F	probably damaging	Het
Mapk7	A	C	11: 61,381,669 (GRCm39)	C32W	probably damaging	Het
Marchf10	C	T	11: 105,255,302 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,031 (GRCm39)	M119K	probably damaging	Het
Mpv17	A	T	5: 31,303,326 (GRCm39)	C59*	probably null	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Myo18b	G	A	5: 113,022,340 (GRCm39)	Q351*	probably null	Het
Myo1a	A	G	10: 127,551,557 (GRCm39)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,360,650 (GRCm39)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,691,938 (GRCm39)	A513E	probably benign	Het
Neb	T	C	2: 52,110,221 (GRCm39)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,652,457 (GRCm39)	Q52L	unknown	Het
Nptx2	G	A	5: 144,483,250 (GRCm39)	S126N	probably benign	Het
Or2a7	G	A	6: 43,150,977 (GRCm39)	S19N	probably benign	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or7g17	A	T	9: 18,768,476 (GRCm39)	H185L	probably benign	Het
Or8b52	A	G	9: 38,577,128 (GRCm39)	V4A	probably benign	Het
Pclo	A	T	5: 14,764,362 (GRCm39)	R4278S	unknown	Het
Pcnx1	T	G	12: 81,997,068 (GRCm39)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,363,970 (GRCm39)	N75K	probably benign	Het
Prpf19	T	G	19: 10,875,154 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,759,533 (GRCm39)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,597,118 (GRCm39)	T226A	probably benign	Het
Rimklb	G	A	6: 122,433,365 (GRCm39)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,574,930 (GRCm39)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,267,519 (GRCm39)	D1035V	probably benign	Het
Rps23rg1	A	T	8: 3,633,922 (GRCm39)	S8C	probably damaging	Het
Scd2	T	A	19: 44,289,791 (GRCm39)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,024,956 (GRCm39)	M84L	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,419,160 (GRCm39)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,359,794 (GRCm39)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,297,492 (GRCm39)		probably benign	Het
Slc4a10	T	A	2: 62,127,332 (GRCm39)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,022,398 (GRCm39)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,302,008 (GRCm39)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,631,883 (GRCm39)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,421,548 (GRCm39)	N594K	probably benign	Het
Spata22	A	T	11: 73,236,582 (GRCm39)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,363,058 (GRCm39)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,583,081 (GRCm39)		probably benign	Het
Strn3	T	A	12: 51,656,999 (GRCm39)	I760L	possibly damaging	Het
Syk	A	T	13: 52,796,022 (GRCm39)	Y539F	probably benign	Het
Tdpoz9-ps1	T	C	3: 93,846,093 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 130,138,001 (GRCm39)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,504,494 (GRCm39)	E42*	probably null	Het
Tom1l1	T	C	11: 90,575,942 (GRCm39)	E30G	probably damaging	Het
Trav10	G	A	14: 53,743,518 (GRCm39)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,878,237 (GRCm39)		probably benign	Het
Tril	T	A	6: 53,795,449 (GRCm39)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,059,087 (GRCm39)	R179*	probably null	Het
Tspoap1	A	T	11: 87,662,489 (GRCm39)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,682,768 (GRCm39)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,065,608 (GRCm39)	I509T	probably benign	Het
Vax2	T	G	6: 83,688,379 (GRCm39)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,150,025 (GRCm39)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,949,566 (GRCm39)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,851 (GRCm39)	I232T	possibly damaging	Het
Xpo4	A	C	14: 57,855,638 (GRCm39)	S264A	probably benign	Het
Zfp330	A	T	8: 83,496,015 (GRCm39)	C75*	probably null	Het
Zfp526	T	A	7: 24,925,064 (GRCm39)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,402,930 (GRCm39)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,240,217 (GRCm39)	F602I	probably damaging	Het

Other mutations in Wnk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Wnk1	APN	6	119,937,669 (GRCm39)	missense	probably damaging	1.00
IGL01364:Wnk1	APN	6	119,914,372 (GRCm39)	missense	probably damaging	1.00
IGL01715:Wnk1	APN	6	119,925,358 (GRCm39)	missense	probably damaging	1.00
IGL01951:Wnk1	APN	6	119,940,446 (GRCm39)	missense	probably damaging	0.99
IGL02043:Wnk1	APN	6	119,926,039 (GRCm39)	unclassified	probably benign
IGL02268:Wnk1	APN	6	119,914,334 (GRCm39)	nonsense	probably null
IGL02348:Wnk1	APN	6	119,940,289 (GRCm39)	missense	probably damaging	0.98
IGL02425:Wnk1	APN	6	119,940,415 (GRCm39)	missense	probably damaging	1.00
IGL02850:Wnk1	APN	6	119,914,823 (GRCm39)	missense	probably benign	0.26
IGL03160:Wnk1	APN	6	119,903,594 (GRCm39)	missense	probably damaging	1.00
IGL03387:Wnk1	APN	6	119,931,148 (GRCm39)	missense	possibly damaging	0.76
IGL03405:Wnk1	APN	6	119,930,856 (GRCm39)	missense	probably benign	0.41
Actor	UTSW	6	119,947,939 (GRCm39)	missense	probably damaging	1.00
Bad	UTSW	6	119,942,639 (GRCm39)	intron	probably benign
Blink	UTSW	6	119,979,234 (GRCm39)	nonsense	probably null
Knock	UTSW	6	119,920,839 (GRCm39)	splice site	probably null
Narrow	UTSW	6	119,969,369 (GRCm39)	missense	probably damaging	1.00
nictitate	UTSW	6	119,979,241 (GRCm39)	missense	possibly damaging	0.88
opportunity	UTSW	6	119,928,029 (GRCm39)	missense	probably damaging	1.00
path	UTSW	6	120,014,110 (GRCm39)	missense	probably damaging	0.99
Stormy	UTSW	6	119,969,408 (GRCm39)	missense	probably damaging	1.00
tear	UTSW	6	119,940,431 (GRCm39)	missense	probably damaging	0.98
Tic	UTSW	6	119,927,044 (GRCm39)	missense	probably damaging	1.00
Unforgiving	UTSW	6	119,925,243 (GRCm39)	missense	probably damaging	1.00
Window	UTSW	6	119,969,414 (GRCm39)	missense	probably damaging	1.00
Woke	UTSW	6	119,939,916 (GRCm39)	missense	probably benign	0.12
IGL03052:Wnk1	UTSW	6	119,921,760 (GRCm39)	splice site	probably benign
PIT4480001:Wnk1	UTSW	6	119,940,328 (GRCm39)	nonsense	probably null
R0044:Wnk1	UTSW	6	120,014,110 (GRCm39)	missense	probably damaging	0.99
R0207:Wnk1	UTSW	6	119,929,694 (GRCm39)	missense	probably damaging	1.00
R0333:Wnk1	UTSW	6	119,905,124 (GRCm39)	intron	probably benign
R0453:Wnk1	UTSW	6	119,940,112 (GRCm39)	missense	probably damaging	0.99
R0457:Wnk1	UTSW	6	119,946,293 (GRCm39)	missense	probably damaging	1.00
R0501:Wnk1	UTSW	6	119,939,764 (GRCm39)	missense	probably damaging	1.00
R0525:Wnk1	UTSW	6	119,903,525 (GRCm39)	missense	probably damaging	1.00
R0526:Wnk1	UTSW	6	119,928,953 (GRCm39)	missense	probably damaging	0.99
R0606:Wnk1	UTSW	6	119,903,644 (GRCm39)	missense	probably damaging	1.00
R0658:Wnk1	UTSW	6	119,925,466 (GRCm39)	missense	probably damaging	0.98
R1148:Wnk1	UTSW	6	119,928,967 (GRCm39)	splice site	probably benign
R1188:Wnk1	UTSW	6	119,925,670 (GRCm39)	nonsense	probably null
R1245:Wnk1	UTSW	6	119,925,418 (GRCm39)	missense	probably benign	0.26
R1449:Wnk1	UTSW	6	119,929,779 (GRCm39)	missense	probably damaging	1.00
R1469:Wnk1	UTSW	6	119,927,645 (GRCm39)	splice site	probably benign
R1869:Wnk1	UTSW	6	119,928,050 (GRCm39)	missense	probably damaging	1.00
R1871:Wnk1	UTSW	6	119,928,050 (GRCm39)	missense	probably damaging	1.00
R1928:Wnk1	UTSW	6	119,929,884 (GRCm39)	missense	probably damaging	1.00
R1959:Wnk1	UTSW	6	119,946,208 (GRCm39)	missense	probably damaging	0.98
R1961:Wnk1	UTSW	6	119,946,208 (GRCm39)	missense	probably damaging	0.98
R1964:Wnk1	UTSW	6	119,911,343 (GRCm39)	missense	possibly damaging	0.86
R1983:Wnk1	UTSW	6	119,914,539 (GRCm39)	missense	probably damaging	1.00
R2062:Wnk1	UTSW	6	119,905,118 (GRCm39)	splice site	probably null
R2144:Wnk1	UTSW	6	119,925,949 (GRCm39)	unclassified	probably benign
R2186:Wnk1	UTSW	6	119,925,528 (GRCm39)	missense	probably benign	0.26
R2281:Wnk1	UTSW	6	119,940,601 (GRCm39)	splice site	probably null
R2338:Wnk1	UTSW	6	119,946,495 (GRCm39)	missense	probably benign	0.42
R2420:Wnk1	UTSW	6	119,913,328 (GRCm39)	critical splice donor site	probably null
R3727:Wnk1	UTSW	6	119,969,414 (GRCm39)	missense	probably damaging	1.00
R3773:Wnk1	UTSW	6	119,979,241 (GRCm39)	missense	possibly damaging	0.88
R3836:Wnk1	UTSW	6	119,927,004 (GRCm39)	missense	probably damaging	1.00
R3837:Wnk1	UTSW	6	119,927,004 (GRCm39)	missense	probably damaging	1.00
R3847:Wnk1	UTSW	6	119,946,315 (GRCm39)	missense	possibly damaging	0.70
R3903:Wnk1	UTSW	6	119,926,012 (GRCm39)	missense	probably damaging	1.00
R4031:Wnk1	UTSW	6	119,928,029 (GRCm39)	missense	probably damaging	1.00
R4095:Wnk1	UTSW	6	119,925,087 (GRCm39)	missense	probably damaging	1.00
R4232:Wnk1	UTSW	6	119,926,222 (GRCm39)	missense	possibly damaging	0.90
R4422:Wnk1	UTSW	6	119,930,856 (GRCm39)	missense	probably benign	0.41
R4423:Wnk1	UTSW	6	119,903,387 (GRCm39)	missense	probably damaging	1.00
R4572:Wnk1	UTSW	6	119,928,872 (GRCm39)	missense	possibly damaging	0.49
R4704:Wnk1	UTSW	6	119,942,705 (GRCm39)	missense	possibly damaging	0.83
R4812:Wnk1	UTSW	6	119,929,732 (GRCm39)	missense	probably benign	0.16
R4822:Wnk1	UTSW	6	119,939,399 (GRCm39)	missense	probably benign	0.02
R4879:Wnk1	UTSW	6	119,926,338 (GRCm39)	missense	probably damaging	1.00
R4970:Wnk1	UTSW	6	119,942,696 (GRCm39)	intron	probably benign
R5002:Wnk1	UTSW	6	119,914,924 (GRCm39)	missense	probably benign	0.13
R5037:Wnk1	UTSW	6	119,942,696 (GRCm39)	intron	probably benign
R5152:Wnk1	UTSW	6	119,979,241 (GRCm39)	missense	possibly damaging	0.88
R5257:Wnk1	UTSW	6	120,014,149 (GRCm39)	missense	probably benign	0.00
R5354:Wnk1	UTSW	6	119,945,484 (GRCm39)	missense	probably benign	0.01
R5421:Wnk1	UTSW	6	119,929,779 (GRCm39)	missense	probably damaging	1.00
R5564:Wnk1	UTSW	6	119,925,852 (GRCm39)	unclassified	probably benign
R5600:Wnk1	UTSW	6	119,926,319 (GRCm39)	missense	probably damaging	1.00
R5847:Wnk1	UTSW	6	119,969,369 (GRCm39)	missense	probably damaging	1.00
R6083:Wnk1	UTSW	6	120,014,562 (GRCm39)	missense	probably damaging	0.99
R6110:Wnk1	UTSW	6	119,949,958 (GRCm39)	intron	probably benign
R6128:Wnk1	UTSW	6	119,940,747 (GRCm39)	splice site	probably null
R6237:Wnk1	UTSW	6	119,929,728 (GRCm39)	missense	probably damaging	1.00
R6341:Wnk1	UTSW	6	119,925,546 (GRCm39)	missense	probably damaging	1.00
R6467:Wnk1	UTSW	6	119,939,916 (GRCm39)	missense	probably benign	0.12
R6696:Wnk1	UTSW	6	119,925,243 (GRCm39)	missense	probably damaging	1.00
R6888:Wnk1	UTSW	6	119,925,742 (GRCm39)	missense	probably benign	0.26
R6923:Wnk1	UTSW	6	119,942,639 (GRCm39)	intron	probably benign
R7024:Wnk1	UTSW	6	119,942,687 (GRCm39)	intron	probably benign
R7072:Wnk1	UTSW	6	119,914,822 (GRCm39)	missense	unknown
R7087:Wnk1	UTSW	6	120,014,491 (GRCm39)	missense	possibly damaging	0.94
R7102:Wnk1	UTSW	6	119,925,268 (GRCm39)	missense	unknown
R7134:Wnk1	UTSW	6	119,903,389 (GRCm39)	missense	unknown
R7137:Wnk1	UTSW	6	120,015,173 (GRCm39)	unclassified	probably benign
R7142:Wnk1	UTSW	6	119,926,240 (GRCm39)	missense	probably benign	0.09
R7174:Wnk1	UTSW	6	119,947,939 (GRCm39)	missense	probably damaging	1.00
R7205:Wnk1	UTSW	6	119,920,839 (GRCm39)	splice site	probably null
R7218:Wnk1	UTSW	6	119,979,234 (GRCm39)	nonsense	probably null
R7498:Wnk1	UTSW	6	119,904,157 (GRCm39)	missense	unknown
R7599:Wnk1	UTSW	6	119,906,789 (GRCm39)	missense	possibly damaging	0.83
R7615:Wnk1	UTSW	6	119,909,699 (GRCm39)	missense	probably benign	0.27
R7799:Wnk1	UTSW	6	119,926,137 (GRCm39)	missense	probably benign	0.04
R7979:Wnk1	UTSW	6	120,014,409 (GRCm39)	missense	probably damaging	1.00
R8075:Wnk1	UTSW	6	119,909,675 (GRCm39)	missense	probably damaging	0.99
R8331:Wnk1	UTSW	6	119,930,794 (GRCm39)	missense	probably benign	0.09
R8343:Wnk1	UTSW	6	119,940,454 (GRCm39)	missense	probably damaging	0.99
R8348:Wnk1	UTSW	6	119,906,960 (GRCm39)	splice site	probably null
R8359:Wnk1	UTSW	6	119,969,408 (GRCm39)	missense	probably damaging	1.00
R8424:Wnk1	UTSW	6	119,911,388 (GRCm39)	missense	unknown
R8519:Wnk1	UTSW	6	119,927,044 (GRCm39)	missense	probably damaging	1.00
R8930:Wnk1	UTSW	6	119,940,226 (GRCm39)	missense	probably damaging	0.99
R8932:Wnk1	UTSW	6	119,940,226 (GRCm39)	missense	probably damaging	0.99
R8933:Wnk1	UTSW	6	120,013,959 (GRCm39)	missense	probably damaging	1.00
R9005:Wnk1	UTSW	6	119,939,393 (GRCm39)	missense	probably damaging	1.00
R9147:Wnk1	UTSW	6	119,925,631 (GRCm39)	missense	unknown
R9148:Wnk1	UTSW	6	119,925,631 (GRCm39)	missense	unknown
R9354:Wnk1	UTSW	6	119,942,660 (GRCm39)	missense	unknown
R9379:Wnk1	UTSW	6	119,928,678 (GRCm39)	missense	probably damaging	1.00
X0064:Wnk1	UTSW	6	120,013,993 (GRCm39)	missense	possibly damaging	0.93
Z1177:Wnk1	UTSW	6	119,925,166 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTGAGCTTCTTCTGCCAGTAC -3'
(R):5'- CATGTTGATACAGCCTCAGTCC -3'

Sequencing Primer
(F):5'- GCCAGTACTAGTCCAGGTCTATAG -3'
(R):5'- TGATACAGCCTCAGTCCATGGC -3'

Posted On

2015-11-11