Incidental Mutation 'IGL03048:Sgk2'
| ID |
391802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgk2
|
| Ensembl Gene |
ENSMUSG00000017868 |
| Gene Name |
serum/glucocorticoid regulated kinase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03048 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
162829250-162856047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162837680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 101
(Y101C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018012]
[ENSMUST00000117123]
|
| AlphaFold |
Q9QZS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018012
AA Change: Y101C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018012
Gene: ENSMUSG00000017868
AA Change: Y101C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
S_TKc
|
35 |
292 |
4.09e-102 |
SMART |
|
S_TK_X
|
293 |
359 |
8.21e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117123
AA Change: Y101C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112468
Gene: ENSMUSG00000017868
AA Change: Y101C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
S_TKc
|
35 |
263 |
2.24e-76 |
SMART |
|
S_TK_X
|
264 |
330 |
8.21e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139053
|
| Meta Mutation Damage Score |
0.6497 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,868,711 (GRCm39) |
|
probably null |
Het |
| Anapc4 |
C |
T |
5: 52,997,075 (GRCm39) |
T116I |
probably benign |
Het |
| Arhgap45 |
C |
T |
10: 79,852,851 (GRCm39) |
R14C |
probably damaging |
Het |
| Bysl |
T |
C |
17: 47,913,560 (GRCm39) |
|
probably null |
Het |
| Ccdc166 |
T |
A |
15: 75,854,050 (GRCm39) |
N10I |
possibly damaging |
Het |
| Chd1l |
T |
C |
3: 97,505,079 (GRCm39) |
S163G |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,737,970 (GRCm39) |
V576A |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,339 (GRCm39) |
T162A |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,180,722 (GRCm39) |
I200F |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,720,866 (GRCm39) |
E1713G |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,198 (GRCm39) |
T220S |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,292,739 (GRCm39) |
L130P |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,484,545 (GRCm39) |
T228A |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,094 (GRCm39) |
A608V |
probably benign |
Het |
| Foxp4 |
A |
T |
17: 48,191,765 (GRCm39) |
M124K |
unknown |
Het |
| Gabrr3 |
A |
G |
16: 59,250,493 (GRCm39) |
H164R |
probably benign |
Het |
| Gapdhrt |
T |
A |
14: 11,281,873 (GRCm38) |
I21F |
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,783,332 (GRCm39) |
C134Y |
probably damaging |
Het |
| Hddc2 |
G |
A |
10: 31,192,332 (GRCm39) |
V79I |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,666,109 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,459,084 (GRCm39) |
R229K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,630,847 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,317,922 (GRCm39) |
R1137G |
probably damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,092,881 (GRCm39) |
|
noncoding transcript |
Het |
| Oasl1 |
T |
A |
5: 115,075,400 (GRCm39) |
S487T |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,064 (GRCm39) |
I91T |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,630,245 (GRCm39) |
V11L |
possibly damaging |
Het |
| Or1e26 |
G |
C |
11: 73,479,831 (GRCm39) |
H244Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,065 (GRCm39) |
F101L |
probably benign |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,181 (GRCm39) |
D147E |
probably benign |
Het |
| Per1 |
A |
G |
11: 68,995,552 (GRCm39) |
K711E |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,214 (GRCm39) |
N734S |
probably damaging |
Het |
| Rapgefl1 |
T |
C |
11: 98,727,990 (GRCm39) |
L4P |
possibly damaging |
Het |
| Tmem129 |
A |
G |
5: 33,812,811 (GRCm39) |
V179A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,587,521 (GRCm39) |
M174K |
probably benign |
Het |
| Vmn2r13 |
G |
A |
5: 109,304,151 (GRCm39) |
A760V |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,460 (GRCm39) |
I820F |
probably damaging |
Het |
| Zswim4 |
T |
C |
8: 84,938,604 (GRCm39) |
M1093V |
possibly damaging |
Het |
|
| Other mutations in Sgk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0319:Sgk2
|
UTSW |
2 |
162,837,592 (GRCm39) |
splice site |
probably benign |
|
|
R0563:Sgk2
|
UTSW |
2 |
162,846,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0947:Sgk2
|
UTSW |
2 |
162,848,758 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1624:Sgk2
|
UTSW |
2 |
162,839,779 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1975:Sgk2
|
UTSW |
2 |
162,846,080 (GRCm39) |
missense |
probably benign |
|
|
R1977:Sgk2
|
UTSW |
2 |
162,846,080 (GRCm39) |
missense |
probably benign |
|
|
R2085:Sgk2
|
UTSW |
2 |
162,854,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Sgk2
|
UTSW |
2 |
162,841,099 (GRCm39) |
splice site |
probably null |
|
|
R2873:Sgk2
|
UTSW |
2 |
162,836,449 (GRCm39) |
splice site |
probably benign |
|
|
R2874:Sgk2
|
UTSW |
2 |
162,836,449 (GRCm39) |
splice site |
probably benign |
|
|
R2919:Sgk2
|
UTSW |
2 |
162,841,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Sgk2
|
UTSW |
2 |
162,841,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Sgk2
|
UTSW |
2 |
162,836,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4660:Sgk2
|
UTSW |
2 |
162,839,763 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5517:Sgk2
|
UTSW |
2 |
162,839,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Sgk2
|
UTSW |
2 |
162,836,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6143:Sgk2
|
UTSW |
2 |
162,841,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Sgk2
|
UTSW |
2 |
162,854,987 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7825:Sgk2
|
UTSW |
2 |
162,848,801 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7837:Sgk2
|
UTSW |
2 |
162,845,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Sgk2
|
UTSW |
2 |
162,848,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8843:Sgk2
|
UTSW |
2 |
162,854,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9279:Sgk2
|
UTSW |
2 |
162,854,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGGGCATCTGAACCAAG -3'
(R):5'- AGAGGACCCACTTGCTATAGACTG -3'
Sequencing Primer
(F):5'- GCATCTGAACCAAGGCAAGG -3'
(R):5'- ATCTTGGGAAGCGACTTACTC -3'
|
| Posted On |
2016-06-07 |
Incidental Mutation