Mutagenetix > Incidental Mutation

Incidental Mutation 'R6943:Sgk1'

540667

Institutional Source

Beutler Lab

Gene Symbol

Sgk1

Ensembl Gene

ENSMUSG00000019970

Gene Name

serum/glucocorticoid regulated kinase 1

Synonyms

Sgk

MMRRC Submission

045057-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6943 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21758083-21875802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21758593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 19 (F19S)

Ref Sequence

ENSEMBL: ENSMUSP00000114074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120509]

AlphaFold

Q9WVC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000120509
AA Change: F19S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114074
Gene: ENSMUSG00000019970
AA Change: F19S

Domain	Start	End	E-Value	Type
Blast:S_TKc	129	165	1e-9	BLAST
low complexity region	166	173	N/A	INTRINSIC
S_TKc	191	448	6.15e-106	SMART
S_TK_X	449	518	2.51e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. This enzyme is activated by protein phosphorylation and degraded via the ubiquitination and proteasome pathway. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene was identified on chromosome 12. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption in this gene display an essentially normal phenotype. Sodium retention is compromised on a low salt diet. [provided by MGI curators]

Allele List at MGI

All alleles(143) : Targeted(6) Gene trapped(137)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,583,362 (GRCm39)		probably null	Het
Arhgef1	A	G	7: 24,623,156 (GRCm39)	I423V	probably benign	Het
Aspm	T	C	1: 139,408,280 (GRCm39)	L2389P	probably damaging	Het
B4galt1	T	C	4: 40,812,860 (GRCm39)	M222V	probably benign	Het
Bsn	C	A	9: 107,985,016 (GRCm39)	G3013C	unknown	Het
Camsap2	T	C	1: 136,232,187 (GRCm39)	H136R	probably damaging	Het
Ccar1	A	G	10: 62,582,715 (GRCm39)	V1047A	unknown	Het
Ccdc80	A	G	16: 44,915,445 (GRCm39)	E67G	probably benign	Het
Ces3b	G	T	8: 105,819,710 (GRCm39)	G511V	probably damaging	Het
Cops6	T	A	5: 138,161,790 (GRCm39)	H224Q	probably benign	Het
Dnah5	A	T	15: 28,235,866 (GRCm39)	D331V	probably damaging	Het
Dusp29	T	C	14: 21,727,135 (GRCm39)	D171G	probably damaging	Het
Echs1	G	A	7: 139,688,007 (GRCm39)	T266I	probably damaging	Het
Ehmt2	G	A	17: 35,130,406 (GRCm39)	C1017Y	probably damaging	Het
Epb41l5	C	T	1: 119,536,859 (GRCm39)	R344Q	probably damaging	Het
Fcgbp	G	A	7: 27,791,477 (GRCm39)	V913I	probably benign	Het
Foxd4	A	G	19: 24,877,240 (GRCm39)	F320S	probably damaging	Het
Frmpd4	C	T	X: 166,387,579 (GRCm39)	R133K	probably damaging	Het
Glmp	A	G	3: 88,233,917 (GRCm39)	Y258C	probably damaging	Het
Gphn	C	G	12: 78,538,955 (GRCm39)	S200R	possibly damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Q7	T	G	17: 35,658,560 (GRCm39)	M66R	probably benign	Het
Hivep2	T	A	10: 14,004,058 (GRCm39)	C219S	probably damaging	Het
Hlcs	A	T	16: 93,942,261 (GRCm39)	M90K	possibly damaging	Het
Itga8	C	A	2: 12,160,182 (GRCm39)		probably null	Het
Klrk1	T	A	6: 129,598,203 (GRCm39)	M1L	possibly damaging	Het
Kmo	T	A	1: 175,485,941 (GRCm39)	F385I	probably benign	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc3c	A	G	11: 98,490,075 (GRCm39)	D144G	probably damaging	Het
Lyzl4	C	T	9: 121,412,047 (GRCm39)	W123*	probably null	Het
Map3k1	A	G	13: 111,909,246 (GRCm39)	S77P	probably benign	Het
Mark1	T	C	1: 184,630,984 (GRCm39)	T709A	probably damaging	Het
Nbr1	A	T	11: 101,468,777 (GRCm39)	I878F	probably damaging	Het
Nedd1	A	T	10: 92,547,168 (GRCm39)	H118Q	probably damaging	Het
Nfatc1	C	T	18: 80,678,770 (GRCm39)	G873S	probably damaging	Het
Ngly1	T	G	14: 16,283,467 (GRCm38)	N415K	probably damaging	Het
Nol6	C	A	4: 41,118,962 (GRCm39)	R677L	probably damaging	Het
Nop9	T	C	14: 55,990,270 (GRCm39)	V471A	probably benign	Het
Notch4	A	G	17: 34,802,577 (GRCm39)	N1333D	probably benign	Het
Nsun2	G	A	13: 69,778,152 (GRCm39)	G478R	probably damaging	Het
Or10x4	T	A	1: 174,219,407 (GRCm39)	Y257*	probably null	Het
Or1ad8	T	A	11: 50,898,153 (GRCm39)	M118K	probably damaging	Het
Or5m9b	T	C	2: 85,905,264 (GRCm39)	F60S	probably damaging	Het
Or8g34	A	T	9: 39,373,159 (GRCm39)	Y144F	probably benign	Het
Pcp4l1	T	C	1: 171,002,022 (GRCm39)	E46G	possibly damaging	Het
Plek2	T	C	12: 78,936,083 (GRCm39)		probably null	Het
Rbl1	T	G	2: 157,030,206 (GRCm39)	I434L	probably benign	Het
Ryr2	A	G	13: 11,581,834 (GRCm39)	V4777A	possibly damaging	Het
Stard9	C	T	2: 120,532,677 (GRCm39)	A2978V	probably benign	Het
Syne1	T	C	10: 5,033,940 (GRCm39)	T7711A	probably benign	Het
Taf10	G	A	7: 105,393,383 (GRCm39)	T48I	probably benign	Het
Tgfbi	T	G	13: 56,784,989 (GRCm39)	S649A	possibly damaging	Het
Thbs3	T	C	3: 89,132,171 (GRCm39)	V749A	probably benign	Het
Tmem241	G	T	18: 12,180,641 (GRCm39)	H218N	possibly damaging	Het
Tmem266	C	T	9: 55,284,851 (GRCm39)		probably benign	Het
Tnc	T	C	4: 63,900,982 (GRCm39)	I1586M	probably damaging	Het
Ubr4	T	A	4: 139,164,442 (GRCm39)	C2676*	probably null	Het
Unc13a	A	T	8: 72,105,021 (GRCm39)	I747N	probably damaging	Het
Vangl1	A	T	3: 102,073,097 (GRCm39)		probably benign	Het
Vmn1r184	C	T	7: 25,966,563 (GRCm39)	T103I	possibly damaging	Het
Vmn1r204	T	C	13: 22,740,474 (GRCm39)	V35A	probably benign	Het
Vps13b	A	G	15: 35,448,835 (GRCm39)	H603R	possibly damaging	Het
Zfp105	A	G	9: 122,754,303 (GRCm39)	D44G	probably benign	Het
Zfp11	T	C	5: 129,735,152 (GRCm39)	H103R	probably damaging	Het
Zfp335	A	G	2: 164,736,795 (GRCm39)	F947L	possibly damaging	Het

Other mutations in Sgk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Sgk1	APN	10	21,871,440 (GRCm39)	missense	probably damaging	1.00
IGL02670:Sgk1	APN	10	21,804,445 (GRCm39)	missense	probably benign
IGL03220:Sgk1	APN	10	21,873,290 (GRCm39)	missense	probably null	1.00
R0010:Sgk1	UTSW	10	21,873,337 (GRCm39)	critical splice donor site	probably null
R0010:Sgk1	UTSW	10	21,873,337 (GRCm39)	critical splice donor site	probably null
R0467:Sgk1	UTSW	10	21,872,257 (GRCm39)	splice site	probably benign
R0479:Sgk1	UTSW	10	21,872,209 (GRCm39)	missense	probably benign	0.00
R0650:Sgk1	UTSW	10	21,758,556 (GRCm39)	missense	probably damaging	0.98
R0652:Sgk1	UTSW	10	21,758,556 (GRCm39)	missense	probably damaging	0.98
R0688:Sgk1	UTSW	10	21,874,059 (GRCm39)	missense	probably benign
R0990:Sgk1	UTSW	10	21,872,985 (GRCm39)	missense	probably damaging	1.00
R1769:Sgk1	UTSW	10	21,873,007 (GRCm39)	splice site	probably benign
R2009:Sgk1	UTSW	10	21,872,500 (GRCm39)	missense	probably damaging	1.00
R2218:Sgk1	UTSW	10	21,872,500 (GRCm39)	missense	probably damaging	1.00
R2314:Sgk1	UTSW	10	21,872,500 (GRCm39)	missense	probably damaging	1.00
R2909:Sgk1	UTSW	10	21,870,715 (GRCm39)	missense	probably benign
R2915:Sgk1	UTSW	10	21,872,500 (GRCm39)	missense	probably damaging	1.00
R3176:Sgk1	UTSW	10	21,872,500 (GRCm39)	missense	probably damaging	1.00
R3177:Sgk1	UTSW	10	21,872,500 (GRCm39)	missense	probably damaging	1.00
R3276:Sgk1	UTSW	10	21,872,500 (GRCm39)	missense	probably damaging	1.00
R3277:Sgk1	UTSW	10	21,872,500 (GRCm39)	missense	probably damaging	1.00
R3802:Sgk1	UTSW	10	21,873,311 (GRCm39)	missense	probably damaging	1.00
R5974:Sgk1	UTSW	10	21,872,148 (GRCm39)	missense	probably damaging	1.00
R7360:Sgk1	UTSW	10	21,869,972 (GRCm39)	missense	probably benign	0.01
R7425:Sgk1	UTSW	10	21,870,009 (GRCm39)	missense	probably damaging	0.97
R7665:Sgk1	UTSW	10	21,872,561 (GRCm39)	missense	probably damaging	1.00
R7973:Sgk1	UTSW	10	21,870,054 (GRCm39)	missense	probably benign	0.01
R8252:Sgk1	UTSW	10	21,873,298 (GRCm39)	missense	probably damaging	1.00
R8855:Sgk1	UTSW	10	21,871,726 (GRCm39)	missense	probably benign	0.12
R9199:Sgk1	UTSW	10	21,758,558 (GRCm39)	missense	probably damaging	0.99
R9492:Sgk1	UTSW	10	21,874,096 (GRCm39)	missense	probably damaging	0.97
R9670:Sgk1	UTSW	10	21,868,290 (GRCm39)	frame shift	probably null
R9683:Sgk1	UTSW	10	21,868,290 (GRCm39)	frame shift	probably null
R9723:Sgk1	UTSW	10	21,872,239 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTGGGGCGAGTTACTGC -3'
(R):5'- ATGAATCTCAGCAGGGCCAG -3'

Sequencing Primer
(F):5'- GTGAAAAACTGAGCCCCGTTAGC -3'
(R):5'- AGCGCTCACCTTGACCACTG -3'

Posted On

2018-11-06