Incidental Mutation 'IGL00906:Sgk3'
ID |
26611 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sgk3
|
Ensembl Gene |
ENSMUSG00000025915 |
Gene Name |
serum/glucocorticoid regulated kinase 3 |
Synonyms |
cytokine-independent survival kinase, fy, A330005P07Rik, 2510015P22Rik, Cisk |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.327)
|
Stock # |
IGL00906
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
9868332-9971070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9947470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097826]
[ENSMUST00000166384]
[ENSMUST00000168907]
[ENSMUST00000171265]
[ENSMUST00000188298]
[ENSMUST00000188738]
[ENSMUST00000188782]
|
AlphaFold |
Q9ERE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097826
AA Change: T137A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095437 Gene: ENSMUSG00000025915 AA Change: T137A
Domain | Start | End | E-Value | Type |
PX
|
13 |
120 |
3.9e-19 |
SMART |
S_TKc
|
162 |
419 |
1.07e-105 |
SMART |
S_TK_X
|
420 |
489 |
1.96e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166384
AA Change: T137A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130078 Gene: ENSMUSG00000025915 AA Change: T137A
Domain | Start | End | E-Value | Type |
PX
|
13 |
120 |
3.9e-19 |
SMART |
S_TKc
|
162 |
419 |
1.07e-105 |
SMART |
S_TK_X
|
420 |
489 |
1.96e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168907
AA Change: T137A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126861 Gene: ENSMUSG00000025915 AA Change: T137A
Domain | Start | End | E-Value | Type |
PX
|
13 |
120 |
3.9e-19 |
SMART |
S_TKc
|
162 |
419 |
1.07e-105 |
SMART |
S_TK_X
|
420 |
489 |
1.96e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171265
AA Change: T137A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127462 Gene: ENSMUSG00000025915 AA Change: T137A
Domain | Start | End | E-Value | Type |
PX
|
13 |
120 |
3.9e-19 |
SMART |
S_TKc
|
162 |
419 |
1.07e-105 |
SMART |
S_TK_X
|
420 |
489 |
1.96e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188298
|
SMART Domains |
Protein: ENSMUSP00000139942 Gene: ENSMUSG00000025915
Domain | Start | End | E-Value | Type |
Pfam:PX
|
11 |
66 |
4.5e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188738
AA Change: T137A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140496 Gene: ENSMUSG00000025915 AA Change: T137A
Domain | Start | End | E-Value | Type |
PX
|
13 |
120 |
2.4e-21 |
SMART |
S_TKc
|
162 |
333 |
2.1e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188782
AA Change: T137A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000140318 Gene: ENSMUSG00000025915 AA Change: T137A
Domain | Start | End | E-Value | Type |
PX
|
13 |
120 |
2.4e-21 |
SMART |
S_TKc
|
162 |
343 |
4.3e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189050
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutations in this gene result in wavy vibrissae and coat/ hair abnormalities, including sparse and waved hair, due to impaired hair follicle development and/or hair cycle defects. [provided by MGI curators]
|
Allele List at MGI |
All alleles(16) : Targeted, knock-out(2) Gene trapped(7) Spontaneous(7) |
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,580,338 (GRCm39) |
E221G |
probably benign |
Het |
Alb |
A |
G |
5: 90,619,932 (GRCm39) |
N453S |
probably benign |
Het |
Bckdha |
C |
T |
7: 25,332,767 (GRCm39) |
V183M |
probably benign |
Het |
Brpf3 |
A |
G |
17: 29,055,674 (GRCm39) |
|
probably benign |
Het |
Ccdc163 |
T |
C |
4: 116,567,487 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,268,225 (GRCm39) |
C87* |
probably null |
Het |
Cfhr4 |
A |
T |
1: 139,659,312 (GRCm39) |
V739E |
probably damaging |
Het |
Clca4a |
A |
G |
3: 144,660,700 (GRCm39) |
V708A |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,091,512 (GRCm39) |
V1136A |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 117,874,937 (GRCm39) |
L3976R |
probably damaging |
Het |
Erich1 |
A |
G |
8: 14,083,770 (GRCm39) |
|
probably benign |
Het |
Fam228a |
A |
T |
12: 4,782,773 (GRCm39) |
Y107N |
possibly damaging |
Het |
Iars2 |
A |
T |
1: 185,028,600 (GRCm39) |
|
probably benign |
Het |
Ifi204 |
A |
G |
1: 173,587,197 (GRCm39) |
|
probably benign |
Het |
Ifih1 |
A |
T |
2: 62,476,168 (GRCm39) |
I36N |
probably benign |
Het |
Jak1 |
C |
T |
4: 101,011,826 (GRCm39) |
G1092D |
probably damaging |
Het |
Kir3dl2 |
G |
A |
X: 135,357,097 (GRCm39) |
P122S |
probably damaging |
Het |
Nacc2 |
T |
C |
2: 25,951,678 (GRCm39) |
T386A |
probably damaging |
Het |
Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
Or4k15 |
A |
G |
14: 50,364,214 (GRCm39) |
Y60C |
probably damaging |
Het |
Or51i2 |
G |
A |
7: 103,689,051 (GRCm39) |
G16D |
probably damaging |
Het |
Pcca |
A |
C |
14: 122,927,545 (GRCm39) |
D436A |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,555,174 (GRCm39) |
Q168L |
possibly damaging |
Het |
Pdgfra |
A |
G |
5: 75,340,834 (GRCm39) |
I598V |
probably benign |
Het |
Pla2g6 |
C |
T |
15: 79,171,947 (GRCm39) |
V637I |
probably damaging |
Het |
Plac1 |
A |
C |
X: 52,159,593 (GRCm39) |
V39G |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,416,822 (GRCm39) |
E5G |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,157,023 (GRCm39) |
D967G |
possibly damaging |
Het |
Rel |
T |
C |
11: 23,694,266 (GRCm39) |
T322A |
probably benign |
Het |
Sgpp2 |
A |
G |
1: 78,367,184 (GRCm39) |
R106G |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,724,984 (GRCm39) |
M459L |
probably benign |
Het |
Snx21 |
T |
C |
2: 164,628,140 (GRCm39) |
L52P |
probably damaging |
Het |
Srarp |
G |
A |
4: 141,160,584 (GRCm39) |
T83M |
probably benign |
Het |
Sstr2 |
A |
G |
11: 113,515,821 (GRCm39) |
R247G |
probably benign |
Het |
Tnpo3 |
G |
A |
6: 29,589,047 (GRCm39) |
S101L |
probably damaging |
Het |
Zan |
A |
G |
5: 137,387,622 (GRCm39) |
I4863T |
unknown |
Het |
|
Other mutations in Sgk3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Sgk3
|
APN |
1 |
9,938,609 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01683:Sgk3
|
APN |
1 |
9,952,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02803:Sgk3
|
APN |
1 |
9,949,273 (GRCm39) |
missense |
possibly damaging |
0.76 |
woolly
|
UTSW |
1 |
9,956,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Sgk3
|
UTSW |
1 |
9,955,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Sgk3
|
UTSW |
1 |
9,955,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0374:Sgk3
|
UTSW |
1 |
9,949,306 (GRCm39) |
splice site |
probably null |
|
R0526:Sgk3
|
UTSW |
1 |
9,951,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R1483:Sgk3
|
UTSW |
1 |
9,942,518 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1992:Sgk3
|
UTSW |
1 |
9,950,567 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2073:Sgk3
|
UTSW |
1 |
9,961,649 (GRCm39) |
missense |
probably benign |
0.01 |
R4590:Sgk3
|
UTSW |
1 |
9,969,020 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5436:Sgk3
|
UTSW |
1 |
9,952,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R5511:Sgk3
|
UTSW |
1 |
9,968,911 (GRCm39) |
intron |
probably benign |
|
R5623:Sgk3
|
UTSW |
1 |
9,872,520 (GRCm39) |
intron |
probably benign |
|
R5936:Sgk3
|
UTSW |
1 |
9,956,045 (GRCm39) |
intron |
probably benign |
|
R6778:Sgk3
|
UTSW |
1 |
9,956,369 (GRCm39) |
critical splice donor site |
probably null |
|
R6842:Sgk3
|
UTSW |
1 |
9,968,979 (GRCm39) |
missense |
probably benign |
|
R7055:Sgk3
|
UTSW |
1 |
9,956,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R7186:Sgk3
|
UTSW |
1 |
9,956,227 (GRCm39) |
missense |
probably benign |
0.00 |
R7336:Sgk3
|
UTSW |
1 |
9,954,701 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7429:Sgk3
|
UTSW |
1 |
9,942,483 (GRCm39) |
missense |
probably benign |
0.00 |
R7430:Sgk3
|
UTSW |
1 |
9,942,483 (GRCm39) |
missense |
probably benign |
0.00 |
R7787:Sgk3
|
UTSW |
1 |
9,952,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R8949:Sgk3
|
UTSW |
1 |
9,938,699 (GRCm39) |
splice site |
probably benign |
|
R9269:Sgk3
|
UTSW |
1 |
9,942,534 (GRCm39) |
missense |
probably benign |
0.41 |
R9487:Sgk3
|
UTSW |
1 |
9,950,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-04-17 |