Incidental Mutation 'R8252:Sgk1'
| ID |
640189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgk1
|
| Ensembl Gene |
ENSMUSG00000019970 |
| Gene Name |
serum/glucocorticoid regulated kinase 1 |
| Synonyms |
Sgk |
| MMRRC Submission |
067678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
21758083-21875802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21873298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 375
(C375S)
|
| 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: C282S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020145
Gene: ENSMUSG00000019970
AA Change: C282S
| 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: C296S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090343
Gene: ENSMUSG00000019970
AA Change: C296S
| 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: C268S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097614
Gene: ENSMUSG00000019970
AA Change: C268S
| 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: C375S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114074
Gene: ENSMUSG00000019970
AA Change: C375S
| 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: C255S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114691
Gene: ENSMUSG00000019970
AA Change: C255S
| 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: C255S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128873
Gene: ENSMUSG00000019970
AA Change: C255S
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,861,284 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,816,881 (GRCm39) |
I644T |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,730,932 (GRCm39) |
D203E |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,518,706 (GRCm39) |
M337K |
probably benign |
Het |
| Atg13 |
G |
C |
2: 91,510,699 (GRCm39) |
P343A |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,634,335 (GRCm39) |
V1058I |
|
Het |
| Cd180 |
A |
G |
13: 102,842,504 (GRCm39) |
T517A |
probably benign |
Het |
| Cd1d2 |
A |
C |
3: 86,894,375 (GRCm39) |
I48L |
probably benign |
Het |
| Cdh19 |
C |
T |
1: 110,817,615 (GRCm39) |
C709Y |
probably benign |
Het |
| Chst10 |
T |
C |
1: 38,923,433 (GRCm39) |
D51G |
probably benign |
Het |
| Clec2g |
G |
A |
6: 128,958,335 (GRCm39) |
E184K |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,319,048 (GRCm39) |
H1014L |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,404,872 (GRCm39) |
H58L |
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,708,586 (GRCm39) |
I363V |
probably benign |
Het |
| Hecw1 |
C |
A |
13: 14,515,425 (GRCm39) |
G236W |
probably damaging |
Het |
| Htra3 |
A |
G |
5: 35,810,305 (GRCm39) |
M459T |
probably benign |
Het |
| Iglc2 |
A |
T |
16: 19,017,520 (GRCm39) |
C27* |
probably null |
Het |
| Il36b |
A |
T |
2: 24,048,825 (GRCm39) |
T77S |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,358,262 (GRCm39) |
N135K |
probably damaging |
Het |
| Krt5 |
A |
T |
15: 101,620,794 (GRCm39) |
I151N |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,936,142 (GRCm39) |
M606L |
probably benign |
Het |
| Lgr6 |
T |
A |
1: 134,931,215 (GRCm39) |
S280C |
probably null |
Het |
| Msh3 |
T |
A |
13: 92,357,569 (GRCm39) |
T967S |
probably damaging |
Het |
| Ndufb4 |
T |
C |
16: 37,474,637 (GRCm39) |
T29A |
probably benign |
Het |
| Nfe2l1 |
T |
C |
11: 96,710,058 (GRCm39) |
M724V |
probably benign |
Het |
| Nudt12 |
T |
C |
17: 59,318,089 (GRCm39) |
Y52C |
probably damaging |
Het |
| Nutm1 |
G |
T |
2: 112,082,174 (GRCm39) |
Q301K |
probably damaging |
Het |
| Or2t46 |
T |
A |
11: 58,471,958 (GRCm39) |
I96N |
probably damaging |
Het |
| Or4c102 |
A |
G |
2: 88,423,011 (GRCm39) |
R288G |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,704 (GRCm39) |
Y216F |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,126,086 (GRCm39) |
Y28C |
probably damaging |
Het |
| Pcdha11 |
G |
C |
18: 37,140,590 (GRCm39) |
V740L |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,472 (GRCm39) |
T1273A |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,727,058 (GRCm39) |
D574G |
probably damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,392 (GRCm39) |
Q1719L |
possibly damaging |
Het |
| Psap |
A |
G |
10: 60,113,511 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,077,694 (GRCm39) |
I656V |
probably benign |
Het |
| Rab11fip2 |
C |
T |
19: 59,925,422 (GRCm39) |
S265N |
probably benign |
Het |
| Rnf10 |
A |
T |
5: 115,398,373 (GRCm39) |
D53E |
probably benign |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,764 (GRCm39) |
E112G |
probably benign |
Het |
| Scml4 |
T |
C |
10: 42,800,100 (GRCm39) |
Y85H |
noncoding transcript |
Het |
| Setd5 |
T |
A |
6: 113,127,916 (GRCm39) |
Y1290N |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,828,415 (GRCm39) |
V209A |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,410 (GRCm39) |
V776D |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,796 (GRCm39) |
M1K |
probably null |
Het |
| Slc26a7 |
T |
C |
4: 14,621,415 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
G |
T |
2: 121,918,820 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
A |
Y: 2,663,298 (GRCm39) |
A121S |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,462,386 (GRCm39) |
T3719I |
probably damaging |
Het |
| Tcap |
T |
C |
11: 98,275,171 (GRCm39) |
S102P |
probably benign |
Het |
| Thap7 |
T |
C |
16: 17,346,486 (GRCm39) |
R166G |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
| Trim8 |
A |
G |
19: 46,504,059 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,200,528 (GRCm39) |
M4692K |
unknown |
Het |
| Uvssa |
A |
G |
5: 33,549,523 (GRCm39) |
S395G |
probably benign |
Het |
| Vgll4 |
G |
T |
6: 114,867,695 (GRCm39) |
T52K |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,600,527 (GRCm39) |
L548P |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,134 (GRCm39) |
S158T |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,337 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,105,344 (GRCm39) |
C463S |
probably 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 |
|
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 |
|
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'- AGCACAGAGGTTTTAACTAAGAAGC -3'
(R):5'- ACCTGCCCTGAGATTCGAAC -3'
Sequencing Primer
(F):5'- CAGAGGTTTTAACTAAGAAGCAATCC -3'
(R):5'- GCCCTGAGATTCGAACAAGACTATTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation