Mutagenetix > Incidental Mutation

Incidental Mutation 'R0650:Sgk1'

62223

Institutional Source

Beutler Lab

Gene Symbol

Sgk1

Ensembl Gene

ENSMUSG00000019970

Gene Name

serum/glucocorticoid regulated kinase 1

Synonyms

Sgk

MMRRC Submission

038835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

21758083-21875802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21758556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 7 (N7D)

Ref Sequence

ENSEMBL: ENSMUSP00000114074 (fasta)

Gene Model

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

AlphaFold

Q9WVC6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116957

Predicted Effect

probably damaging
Transcript: ENSMUST00000120509
AA Change: N7D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114074
Gene: ENSMUSG00000019970
AA Change: N7D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143094

Meta Mutation Damage Score

0.1005

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 68,989,391 (GRCm39)	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,956,830 (GRCm39)	D120G	probably damaging	Het
Actmap	A	T	7: 26,902,072 (GRCm39)	H233L	probably damaging	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,548,627 (GRCm39)	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,695,380 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,299,930 (GRCm39)	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,163 (GRCm39)	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,709,421 (GRCm39)	D403V	possibly damaging	Het
Bnc2	T	C	4: 84,211,433 (GRCm39)	D407G	probably benign	Het
Ccdc121	T	C	5: 31,643,312 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,556,526 (GRCm39)	V633A	probably benign	Het
Cfap46	T	C	7: 139,185,571 (GRCm39)	Y2482C	unknown	Het
Chd8	T	C	14: 52,439,761 (GRCm39)	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,460,443 (GRCm39)	N18D	probably damaging	Het
Fis1	T	A	5: 136,991,048 (GRCm39)	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424 (GRCm39)		probably null	Het
Gm2381	C	T	7: 42,469,504 (GRCm39)	G207R	probably damaging	Het
Gpr89	T	A	3: 96,804,640 (GRCm39)		probably benign	Het
Gtf2i	A	G	5: 134,290,691 (GRCm39)		probably benign	Het
Herc2	T	G	7: 55,762,958 (GRCm39)	S896A	probably damaging	Het
Huwe1	T	C	X: 150,659,309 (GRCm39)	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kcna4	T	A	2: 107,125,927 (GRCm39)	Y220*	probably null	Het
Krt18	A	G	15: 101,937,920 (GRCm39)	D139G	possibly damaging	Het
Krt87	T	C	15: 101,384,921 (GRCm39)	N392D	probably damaging	Het
L3mbtl4	G	A	17: 69,081,286 (GRCm39)	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,019,622 (GRCm39)	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lrrk1	G	A	7: 65,942,084 (GRCm39)	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,132,666 (GRCm39)	I51V	probably damaging	Het
Myt1	A	T	2: 181,424,408 (GRCm39)	R25*	probably null	Het
Npdc1	C	T	2: 25,298,021 (GRCm39)	T199I	probably benign	Het
Nup98	T	A	7: 101,801,660 (GRCm39)	Y755F	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,966,996 (GRCm39)	C100S	probably damaging	Het
Or5p76	G	T	7: 108,122,289 (GRCm39)	N289K	probably damaging	Het
Or8g22	T	A	9: 38,957,996 (GRCm39)	M240L	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pde10a	A	T	17: 9,161,797 (GRCm39)	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,212,780 (GRCm39)	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,020,726 (GRCm39)	L457*	probably null	Het
Pik3c2a	A	G	7: 115,945,482 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,595,283 (GRCm39)		probably benign	Het
Prr13	A	C	15: 102,370,650 (GRCm39)	*138C	probably null	Het
Prrc2b	T	C	2: 32,119,267 (GRCm39)		probably benign	Het
Psph	T	C	5: 129,868,633 (GRCm39)		probably benign	Het
Ripor1	A	G	8: 106,344,746 (GRCm39)		probably benign	Het
Scg3	A	G	9: 75,576,617 (GRCm39)	S253P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skor2	T	C	18: 76,964,255 (GRCm39)	F940L	probably benign	Het
Slbp	T	C	5: 33,802,833 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Susd5	A	T	9: 113,911,603 (GRCm39)	H171L	possibly damaging	Het
Sybu	T	C	15: 44,536,664 (GRCm39)	E354G	probably benign	Het
Synpo	T	C	18: 60,735,412 (GRCm39)	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,939,050 (GRCm39)	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,029,285 (GRCm39)	I111T	probably benign	Het
Tnc	T	C	4: 63,926,971 (GRCm39)	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 70,013,625 (GRCm39)	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 84,892,974 (GRCm39)	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,668,959 (GRCm39)	V22A	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,031,051 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,627 (GRCm39)	Q191L	probably benign	Het
Urod	T	C	4: 116,848,473 (GRCm39)	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,889,574 (GRCm39)	Q723*	probably null	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
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
R6943:Sgk1	UTSW	10	21,758,593 (GRCm39)	missense	probably damaging	0.99
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'- CTGGATAGATTTGCTGTATCCCGCC -3'
(R):5'- TGACACCAGAAGCTCTGCTTTCAC -3'

Sequencing Primer
(F):5'- ATTGCCAGTGGCCTCTGAAAG -3'
(R):5'- TTTCACGAAGGGCTCAGTAAC -3'

Posted On

2013-07-30