Mutagenetix > Incidental Mutation

Incidental Mutation 'R9723:Sgk1'

730933

Institutional Source

Beutler Lab

Gene Symbol

Sgk1

Ensembl Gene

ENSMUSG00000019970

Gene Name

serum/glucocorticoid regulated kinase 1

Synonyms

Sgk

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21758083-21875802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21872239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 272 (I272F)

Ref Sequence

ENSEMBL: ENSMUSP00000114074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020145] [ENSMUST00000092673] [ENSMUST00000100036] [ENSMUST00000120509] [ENSMUST00000124350] [ENSMUST00000142174] [ENSMUST00000150089] [ENSMUST00000164659]

AlphaFold

Q9WVC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000020145
AA Change: I179F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020145
Gene: ENSMUSG00000019970
AA Change: I179F

Domain	Start	End	E-Value	Type
Blast:S_TKc	36	72	4e-10	BLAST
low complexity region	73	80	N/A	INTRINSIC
S_TKc	98	355	6.15e-106	SMART
S_TK_X	356	425	2.51e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000092673
AA Change: I193F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090343
Gene: ENSMUSG00000019970
AA Change: I193F

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
Blast:S_TKc	50	86	5e-10	BLAST
low complexity region	87	94	N/A	INTRINSIC
S_TKc	112	369	6.15e-106	SMART
S_TK_X	370	439	2.51e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100036
AA Change: I165F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097614
Gene: ENSMUSG00000019970
AA Change: I165F

Domain	Start	End	E-Value	Type
Blast:S_TKc	22	58	5e-10	BLAST
low complexity region	59	66	N/A	INTRINSIC
S_TKc	84	341	6.15e-106	SMART
S_TK_X	342	411	2.51e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120509
AA Change: I272F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114074
Gene: ENSMUSG00000019970
AA Change: I272F

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

probably damaging
Transcript: ENSMUST00000124350
AA Change: I152F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114691
Gene: ENSMUSG00000019970
AA Change: I152F

Domain	Start	End	E-Value	Type
Blast:S_TKc	9	45	2e-12	BLAST
low complexity region	46	53	N/A	INTRINSIC
Pfam:Pkinase	71	266	3.2e-62	PFAM
Pfam:Pkinase_Tyr	71	266	4.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142174

SMART Domains

Protein: ENSMUSP00000120882
Gene: ENSMUSG00000019970

Domain	Start	End	E-Value	Type
Blast:S_TKc	9	45	3e-14	BLAST
PDB:3HDN\|A	33	82	7e-18	PDB
SCOP:d1koba_	43	82	4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150089

SMART Domains

Protein: ENSMUSP00000115073
Gene: ENSMUSG00000019970

Domain	Start	End	E-Value	Type
Blast:S_TKc	22	58	4e-14	BLAST
PDB:3HDN\|A	46	89	3e-13	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000164659
AA Change: I152F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128873
Gene: ENSMUSG00000019970
AA Change: I152F

Domain	Start	End	E-Value	Type
Blast:S_TKc	9	45	5e-10	BLAST
low complexity region	46	53	N/A	INTRINSIC
S_TKc	71	328	6.15e-106	SMART
S_TK_X	329	398	2.51e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	G	A	1: 75,156,366 (GRCm39)	R133W	probably benign	Het
Abcc3	T	A	11: 94,250,725 (GRCm39)	T877S	probably benign	Het
Alb	A	T	5: 90,611,962 (GRCm39)	K130N	probably damaging	Het
Alkbh8	G	A	9: 3,385,283 (GRCm39)	S560N	probably benign	Het
Angel2	T	G	1: 190,671,342 (GRCm39)	L234R	probably damaging	Het
Catip	C	T	1: 74,403,745 (GRCm39)	T154I	probably benign	Het
Ccdc163	C	T	4: 116,569,595 (GRCm39)	Q102*	probably null	Het
Cep250	A	G	2: 155,823,337 (GRCm39)	E997G	probably benign	Het
Ces2f	T	C	8: 105,677,463 (GRCm39)	I183T	possibly damaging	Het
Commd8	A	G	5: 72,318,309 (GRCm39)	V158A	possibly damaging	Het
Cyp2b9	C	T	7: 25,909,596 (GRCm39)	Q455*	probably null	Het
D5Ertd579e	G	T	5: 36,772,284 (GRCm39)	H704N	probably damaging	Het
Dnah1	T	C	14: 30,987,946 (GRCm39)	T3491A	probably damaging	Het
Dnai1	T	G	4: 41,603,302 (GRCm39)	F195C	possibly damaging	Het
Dock7	A	G	4: 98,908,270 (GRCm39)	V620A		Het
Dock7	A	T	4: 98,960,660 (GRCm39)	D289E		Het
Dpys	T	A	15: 39,691,509 (GRCm39)	E271V	probably damaging	Het
Elovl3	T	C	19: 46,123,155 (GRCm39)	Y244H	probably damaging	Het
Enam	G	A	5: 88,652,241 (GRCm39)	G1250E	probably damaging	Het
Espl1	C	T	15: 102,229,170 (GRCm39)	T1774M	probably benign	Het
Fasl	T	C	1: 161,615,535 (GRCm39)	K107R	probably benign	Het
Fbn1	A	T	2: 125,202,119 (GRCm39)	C1251*	probably null	Het
Fn1	G	T	1: 71,663,369 (GRCm39)	Q1040K	possibly damaging	Het
Frem3	C	T	8: 81,341,352 (GRCm39)	S1215L	probably benign	Het
G3bp2	A	T	5: 92,214,388 (GRCm39)	D135E	possibly damaging	Het
Gabpb1	C	T	2: 126,488,648 (GRCm39)	V240I	probably benign	Het
Galnt12	C	G	4: 47,119,541 (GRCm39)	Y452*	probably null	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Gm12258	C	T	11: 58,750,448 (GRCm39)	P541L	unknown	Het
Gm12789	T	A	4: 101,846,083 (GRCm39)	W115R	possibly damaging	Het
Gm8126	T	C	14: 43,119,141 (GRCm39)		probably null	Het
Gpr179	A	T	11: 97,225,546 (GRCm39)	L2203H	possibly damaging	Het
H1f6	A	G	13: 23,879,906 (GRCm39)	K20E	probably damaging	Het
Hapln3	A	T	7: 78,771,736 (GRCm39)	V51E	possibly damaging	Het
Ifit1	A	G	19: 34,626,257 (GRCm39)	*464W	probably null	Het
Il1r1	A	C	1: 40,332,721 (GRCm39)	I137L	probably benign	Het
Il1rap	T	A	16: 26,442,907 (GRCm39)	M1K	probably null	Het
Lgi2	A	G	5: 52,695,843 (GRCm39)	L372P	probably damaging	Het
Lrrc46	A	G	11: 96,925,773 (GRCm39)	S230P	possibly damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mapk8ip3	C	A	17: 25,132,585 (GRCm39)	W339L	possibly damaging	Het
Msln	A	T	17: 25,969,008 (GRCm39)	M459K	possibly damaging	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Ndst2	G	T	14: 20,775,512 (GRCm39)	D659E	probably benign	Het
Npat	T	A	9: 53,473,746 (GRCm39)	S513T	probably benign	Het
Npat	T	G	9: 53,481,861 (GRCm39)	L1190V	probably damaging	Het
Npc1	A	G	18: 12,343,649 (GRCm39)	I448T	probably benign	Het
Omd	T	C	13: 49,743,838 (GRCm39)	F296S	probably damaging	Het
Oprm1	A	G	10: 6,788,514 (GRCm39)	N423S	possibly damaging	Het
Oxtr	G	A	6: 112,466,304 (GRCm39)	T152I	probably benign	Het
Pak2	A	T	16: 31,852,650 (GRCm39)	V297E	probably damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pet100	G	A	8: 3,672,374 (GRCm39)	M20I	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Plekhn1	A	G	4: 156,306,875 (GRCm39)	S505P	probably benign	Het
Plin5	G	A	17: 56,423,290 (GRCm39)	A90V	probably damaging	Het
Poc5	A	G	13: 96,551,026 (GRCm39)	T526A	probably benign	Het
Potefam1	T	C	2: 111,058,700 (GRCm39)	H84R	probably damaging	Het
Pramel7	C	T	2: 87,320,019 (GRCm39)	V425I	possibly damaging	Het
Rad51d	A	T	11: 82,781,162 (GRCm39)		probably null	Het
Rbp3	T	C	14: 33,677,474 (GRCm39)	M474T	possibly damaging	Het
Rcan3	A	G	4: 135,152,680 (GRCm39)	S14P	probably benign	Het
Rps6ka4	A	T	19: 6,816,663 (GRCm39)	V140E	probably damaging	Het
Rsbn1l	G	A	5: 21,101,464 (GRCm39)	S692L	possibly damaging	Het
Skor1	A	G	9: 63,053,714 (GRCm39)	V85A	probably damaging	Het
Slc12a1	A	T	2: 125,059,827 (GRCm39)	D909V	probably damaging	Het
Slc25a18	C	A	6: 120,770,489 (GRCm39)	A283E	probably benign	Het
Slc41a1	T	C	1: 131,772,103 (GRCm39)	L411P	possibly damaging	Het
Spata13	T	C	14: 60,928,498 (GRCm39)	S19P	probably damaging	Het
Stab1	T	A	14: 30,885,848 (GRCm39)	H42L	probably benign	Het
Stag3	T	A	5: 138,298,103 (GRCm39)	D698E	probably benign	Het
Syngap1	G	A	17: 27,189,510 (GRCm39)	R1305H	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Trappc9	A	G	15: 72,461,963 (GRCm39)	Y1101H	possibly damaging	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Uhrf1	A	G	17: 56,625,061 (GRCm39)	K535E	probably damaging	Het
Usp14	G	T	18: 10,009,993 (GRCm39)	Q185K	probably damaging	Het
Usp32	A	T	11: 84,935,536 (GRCm39)	Y413*	probably null	Het
Uvssa	G	A	5: 33,547,382 (GRCm39)		probably null	Het
Vmn1r177	A	T	7: 23,565,774 (GRCm39)	L34Q	probably damaging	Het
Wdr41	T	C	13: 95,151,671 (GRCm39)	L277P	probably damaging	Het
Zc2hc1b	T	A	10: 13,044,497 (GRCm39)	L55F	probably damaging	Het
Zfp345	A	C	2: 150,314,189 (GRCm39)	Y449*	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGGTGAAGAATTTCTACCCTG -3'
(R):5'- AAACTGAGGCTTAGTGGGGTC -3'

Sequencing Primer
(F):5'- AAGAATTTCTACCCTGTGGTTTGC -3'
(R):5'- TCGTTTAGTCAGGCCCGAAAG -3'

Posted On

2022-10-06