Mutagenetix > Incidental Mutation

Incidental Mutation 'R3436:Wnk3'

475672

Institutional Source

Beutler Lab

Gene Symbol

Wnk3

Ensembl Gene

ENSMUSG00000041245

Gene Name

WNK lysine deficient protein kinase 3

Synonyms

Wnk3-ps, Prkwnk3, Wnk3

MMRRC Submission

040654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R3436 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

149981074-150103148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150069300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 886 (F886I)

Ref Sequence

ENSEMBL: ENSMUSP00000138822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096285] [ENSMUST00000149140] [ENSMUST00000184392] [ENSMUST00000184730]

AlphaFold

Q80XP9

Predicted Effect

probably benign
Transcript: ENSMUST00000096285
AA Change: F918I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000138839
Gene: ENSMUSG00000041245
AA Change: F918I

Domain	Start	End	E-Value	Type
low complexity region	121	136	N/A	INTRINSIC
S_TKc	146	404	4.88e-68	SMART
Pfam:OSR1_C	425	462	7.9e-23	PFAM
low complexity region	518	531	N/A	INTRINSIC
internal_repeat_1	765	806	2.88e-5	PROSPERO
low complexity region	1511	1532	N/A	INTRINSIC
coiled coil region	1535	1579	N/A	INTRINSIC
low complexity region	1580	1600	N/A	INTRINSIC
low complexity region	1656	1670	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149140

SMART Domains

Protein: ENSMUSP00000139255
Gene: ENSMUSG00000041245

Domain	Start	End	E-Value	Type
low complexity region	121	136	N/A	INTRINSIC
S_TKc	146	404	4.88e-68	SMART
Pfam:OSR1_C	425	462	2.3e-23	PFAM
low complexity region	518	531	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184392
AA Change: F886I

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139037
Gene: ENSMUSG00000041245
AA Change: F886I

Domain	Start	End	E-Value	Type
low complexity region	121	136	N/A	INTRINSIC
S_TKc	146	404	4.88e-68	SMART
Pfam:OSR1_C	425	462	7.8e-23	PFAM
low complexity region	518	531	N/A	INTRINSIC
internal_repeat_1	733	774	2.87e-5	PROSPERO
low complexity region	1479	1500	N/A	INTRINSIC
coiled coil region	1503	1547	N/A	INTRINSIC
low complexity region	1548	1568	N/A	INTRINSIC
low complexity region	1624	1638	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184730
AA Change: F886I

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138822
Gene: ENSMUSG00000041245
AA Change: F886I

Domain	Start	End	E-Value	Type
low complexity region	121	136	N/A	INTRINSIC
S_TKc	146	404	4.88e-68	SMART
Pfam:OSR1_C	425	462	7.5e-23	PFAM
low complexity region	518	531	N/A	INTRINSIC
internal_repeat_1	733	774	2.72e-5	PROSPERO
low complexity region	1432	1453	N/A	INTRINSIC
coiled coil region	1456	1500	N/A	INTRINSIC
low complexity region	1501	1521	N/A	INTRINSIC
low complexity region	1577	1591	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lower blood pressure when fed a low-salt diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambp	T	C	4: 63,067,721 (GRCm39)	E163G	probably benign	Het
Angptl3	A	T	4: 98,921,540 (GRCm39)	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,468,255 (GRCm39)	N86S	probably benign	Het
Cadps	A	T	14: 12,616,158 (GRCm38)		probably null	Het
Ccdc146	A	G	5: 21,502,003 (GRCm39)	S804P	possibly damaging	Het
Cdc20b	T	C	13: 113,215,233 (GRCm39)	I267T	probably damaging	Het
Cdh8	A	G	8: 100,127,350 (GRCm39)		probably benign	Het
Dse	G	T	10: 34,028,470 (GRCm39)	N873K	probably benign	Het
Ehd1	G	T	19: 6,327,044 (GRCm39)	E14*	probably null	Het
F8	A	G	X: 74,311,030 (GRCm39)		probably benign	Het
Flnb	T	C	14: 7,942,057 (GRCm38)	V2345A	probably damaging	Het
Fndc1	T	C	17: 7,969,189 (GRCm39)	K1559E	probably damaging	Het
Ighg1	T	C	12: 113,293,180 (GRCm39)	E170G	probably damaging	Het
Kmt2b	G	T	7: 30,276,117 (GRCm39)	P1794Q	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Med25	C	A	7: 44,535,314 (GRCm39)	R37L	possibly damaging	Het
Optc	T	C	1: 133,825,617 (GRCm39)	D303G	probably damaging	Het
Or2n1d	A	G	17: 38,646,323 (GRCm39)	I92V	probably damaging	Het
Or2n1e	G	A	17: 38,586,421 (GRCm39)	G253D	probably damaging	Het
Or4c102	T	A	2: 88,422,448 (GRCm39)	F100Y	probably damaging	Het
Pkd1l2	T	C	8: 117,767,478 (GRCm39)	N1271D	probably benign	Het
Plpp2	A	T	10: 79,363,647 (GRCm39)		probably null	Het
Polq	A	T	16: 36,882,699 (GRCm39)	N1342I	probably damaging	Het
Prr16	A	G	18: 51,436,195 (GRCm39)	N225D	probably benign	Het
Pwwp2a	C	T	11: 43,597,015 (GRCm39)	Q452*	probably null	Het
Slfn2	A	T	11: 82,960,390 (GRCm39)	H123L	probably benign	Het
Sort1	T	A	3: 108,245,123 (GRCm39)	I325N	probably damaging	Het
Tmem132e	A	G	11: 82,335,156 (GRCm39)	Y654C	probably damaging	Het
Tmprss11b	A	T	5: 86,815,443 (GRCm39)	Y48*	probably null	Het
Tpp2	T	C	1: 43,979,304 (GRCm39)	I67T	probably damaging	Het
Trdn	G	A	10: 33,344,191 (GRCm39)		probably null	Het
Trim14	C	T	4: 46,523,739 (GRCm39)	V100I	possibly damaging	Het
Trim17	T	C	11: 58,856,059 (GRCm39)	C39R	probably damaging	Het
Trim52	C	T	14: 106,344,741 (GRCm39)	P133L	possibly damaging	Het
Unc13b	T	C	4: 43,097,028 (GRCm39)		probably benign	Het
Vmn2r94	G	A	17: 18,478,650 (GRCm39)		probably benign	Het
Vsig4	A	G	X: 95,334,422 (GRCm39)	V29A	probably benign	Het
Washc4	T	A	10: 83,405,866 (GRCm39)	I454N	probably benign	Het
Ylpm1	T	C	12: 85,096,644 (GRCm39)		probably null	Het
Zfp507	A	T	7: 35,487,195 (GRCm39)	Y234N	probably damaging	Het

Other mutations in Wnk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Wnk3	APN	X	150,016,025 (GRCm39)	missense	probably damaging	1.00
IGL03033:Wnk3	APN	X	150,059,924 (GRCm39)	missense	probably damaging	1.00
R4407:Wnk3	UTSW	X	150,016,209 (GRCm39)	missense	probably benign	0.04
R4789:Wnk3	UTSW	X	149,993,933 (GRCm39)	nonsense	probably null
U24488:Wnk3	UTSW	X	149,992,456 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11