Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Sgk1'

288134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sgk1

Ensembl Gene

ENSMUSG00000019970

Gene Name

serum/glucocorticoid regulated kinase 1

Synonyms

Sgk, Sgk1

Accession Numbers

Ncbi RefSeq: NM_001161845.2, NM_001161847.2, NM_001161848.2, NM_001161849.2, NM_001161850.2, NM_011361.3; MGI:1340062

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

21882184-21999903 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21995541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 60 (S60P)

Ref Sequence

ENSEMBL: ENSMUSP00000115073 (fasta)

Gene Model

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

AlphaFold

Q9WVC6

Predicted Effect

probably benign
Transcript: ENSMUST00000020145
AA Change: S74P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020145
Gene: ENSMUSG00000019970
AA Change: S74P

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: S88P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090343
Gene: ENSMUSG00000019970
AA Change: S88P

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 benign
Transcript: ENSMUST00000100036
AA Change: S60P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000097614
Gene: ENSMUSG00000019970
AA Change: S60P

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 benign
Transcript: ENSMUST00000120509
AA Change: S167P

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114074
Gene: ENSMUSG00000019970
AA Change: S167P

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 benign
Transcript: ENSMUST00000124350
AA Change: S47P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114691
Gene: ENSMUSG00000019970
AA Change: S47P

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

noncoding transcript
Transcript: ENSMUST00000126560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141218

Predicted Effect

probably damaging
Transcript: ENSMUST00000142174
AA Change: S47P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120882
Gene: ENSMUSG00000019970
AA Change: S47P

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 damaging
Transcript: ENSMUST00000150089
AA Change: S60P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115073
Gene: ENSMUSG00000019970
AA Change: S60P

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 benign
Transcript: ENSMUST00000164659
AA Change: S47P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000128873
Gene: ENSMUSG00000019970
AA Change: S47P

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

Validation Efficiency

MGI Phenotype

Strain: 3846797; 2445418
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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,563,576	F116S	probably damaging	Het
2410089E03Rik	A	G	15: 8,175,025	K96E	probably damaging	Het
4930467E23Rik	T	C	8: 19,747,799		probably null	Het
Abhd18	G	A	3: 40,930,227		probably null	Het
Akr1c6	G	T	13: 4,438,497	C34F	probably benign	Het
Ankef1	T	A	2: 136,544,775	I180N	possibly damaging	Het
Ap1b1	G	A	11: 5,019,294	V217I	probably benign	Het
Arhgap27	T	C	11: 103,333,163	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,259,331	T1136A	probably benign	Het
Ascc3	T	A	10: 50,728,154	Y1323*	probably null	Het
Bsx	A	C	9: 40,874,221	Q15P	probably benign	Het
Cdh20	A	G	1: 104,954,039	I410V	probably null	Het
Col20a1	A	G	2: 181,007,159	D945G	probably damaging	Het
Cox20	A	G	1: 178,322,478		probably null	Het
Cpne9	A	G	6: 113,293,738	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,555,243	T33A	probably benign	Het
Dvl3	A	G	16: 20,523,743	R149G	possibly damaging	Het
Dysf	A	G	6: 84,186,464	I1624V	possibly damaging	Het
Echs1	A	T	7: 140,111,710	L167Q	probably damaging	Het
Ect2	A	T	3: 27,138,719	N358K	probably benign	Het
Eml4	A	G	17: 83,441,366	I230V	probably benign	Het
Fut10	A	G	8: 31,236,258	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,162,975	N401K	probably damaging	Het
Gm4788	T	A	1: 139,781,097	E24D	probably benign	Het
Gm4795	C	T	10: 45,006,639		noncoding transcript	Het
Gm5592	C	A	7: 41,286,788	T238N	probably benign	Het
Gm9892	T	C	8: 52,196,225		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388	M134I	possibly damaging	Het
Grk3	A	G	5: 112,937,803	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,214,650	I215T	probably damaging	Het
Ilkap	A	G	1: 91,385,238		probably null	Het
Inpp4a	T	C	1: 37,368,303	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Lmo7	C	T	14: 101,900,066		probably benign	Het
Luc7l3	C	T	11: 94,292,993	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,158,741	I219S	probably benign	Het
Myo9b	G	A	8: 71,354,124	E1581K	probably damaging	Het
Nfs1	T	A	2: 156,124,271	Q458L	probably damaging	Het
Numb	A	T	12: 83,831,918		probably null	Het
Nxf1	G	A	19: 8,764,150		probably null	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr67	A	G	7: 103,788,268	V3A	probably benign	Het
Pde2a	A	T	7: 101,503,343	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 109,939,873	L1011F	probably benign	Het
Prss27	G	T	17: 24,045,597	V245L	probably benign	Het
Rbm7	T	C	9: 48,494,111	N56S	probably damaging	Het
Rftn1	T	C	17: 50,036,970	I97V	possibly damaging	Het
Ric3	T	C	7: 109,048,080	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323		probably benign	Het
Sall2	T	C	14: 52,315,565	T56A	probably damaging	Het
Smarcad1	G	A	6: 65,073,239	A281T	probably damaging	Het
Spta1	A	G	1: 174,174,463	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,763,584	D468G	probably damaging	Het
Tmem108	A	T	9: 103,499,782	V156E	probably benign	Het
Tmem206	A	G	1: 191,348,408	E275G	possibly damaging	Het
Tnfaip3	T	G	10: 19,004,467	R617S	probably benign	Het
Traf3	A	G	12: 111,237,597	M7V	probably benign	Het
Ubr3	T	A	2: 69,979,397	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,741,836	V716A	probably benign	Het

Other mutations in Sgk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02670:Sgk1	APN	10	21928546	missense	probably benign
IGL03220:Sgk1	APN	10	21997391	missense	probably null	1.00
R0010:Sgk1	UTSW	10	21997438	critical splice donor site	probably null
R0010:Sgk1	UTSW	10	21997438	critical splice donor site	probably null
R0467:Sgk1	UTSW	10	21996358	splice site	probably benign
R0479:Sgk1	UTSW	10	21996310	missense	probably benign	0.00
R0650:Sgk1	UTSW	10	21882657	missense	probably damaging	0.98
R0652:Sgk1	UTSW	10	21882657	missense	probably damaging	0.98
R0688:Sgk1	UTSW	10	21998160	missense	probably benign
R0990:Sgk1	UTSW	10	21997086	missense	probably damaging	1.00
R1769:Sgk1	UTSW	10	21997108	splice site	probably benign
R2009:Sgk1	UTSW	10	21996601	missense	probably damaging	1.00
R2218:Sgk1	UTSW	10	21996601	missense	probably damaging	1.00
R2314:Sgk1	UTSW	10	21996601	missense	probably damaging	1.00
R2909:Sgk1	UTSW	10	21994816	missense	probably benign
R2915:Sgk1	UTSW	10	21996601	missense	probably damaging	1.00
R3176:Sgk1	UTSW	10	21996601	missense	probably damaging	1.00
R3177:Sgk1	UTSW	10	21996601	missense	probably damaging	1.00
R3276:Sgk1	UTSW	10	21996601	missense	probably damaging	1.00
R3277:Sgk1	UTSW	10	21996601	missense	probably damaging	1.00
R3802:Sgk1	UTSW	10	21997412	missense	probably damaging	1.00
R5974:Sgk1	UTSW	10	21996249	missense	probably damaging	1.00
R6943:Sgk1	UTSW	10	21882694	missense	probably damaging	0.99
R7360:Sgk1	UTSW	10	21994073	missense	probably benign	0.01
R7425:Sgk1	UTSW	10	21994110	missense	probably damaging	0.97
R7665:Sgk1	UTSW	10	21996662	missense	probably damaging	1.00
R7973:Sgk1	UTSW	10	21994155	missense	probably benign	0.01
R8252:Sgk1	UTSW	10	21997399	missense	probably damaging	1.00
R8855:Sgk1	UTSW	10	21995827	missense	probably benign	0.12
R9199:Sgk1	UTSW	10	21882659	missense	probably damaging	0.99
R9492:Sgk1	UTSW	10	21998197	missense	probably damaging	0.97
R9670:Sgk1	UTSW	10	21992391	frame shift	probably null
R9683:Sgk1	UTSW	10	21992391	frame shift	probably null
R9723:Sgk1	UTSW	10	21996340	missense	probably damaging	1.00

Posted On

2015-04-16