Incidental Mutation 'IGL01683:Sgk3'
| ID |
103869 |
| 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 # |
IGL01683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
9868332-9971070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9952091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 239
(V239D)
|
| 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 damaging
Transcript: ENSMUST00000097826
AA Change: V239D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095437
Gene: ENSMUSG00000025915
AA Change: V239D
| 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 damaging
Transcript: ENSMUST00000166384
AA Change: V239D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130078
Gene: ENSMUSG00000025915
AA Change: V239D
| 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 damaging
Transcript: ENSMUST00000168907
AA Change: V239D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126861
Gene: ENSMUSG00000025915
AA Change: V239D
| 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 damaging
Transcript: ENSMUST00000171265
AA Change: V239D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127462
Gene: ENSMUSG00000025915
AA Change: V239D
| 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 damaging
Transcript: ENSMUST00000188738
AA Change: V239D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140496
Gene: ENSMUSG00000025915
AA Change: V239D
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
13 |
120 |
2.4e-21 |
SMART |
|
S_TKc
|
162 |
333 |
2.1e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188782
AA Change: V239D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140318
Gene: ENSMUSG00000025915
AA Change: V239D
| 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: ENSMUST00000191338
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,214,288 (GRCm39) |
L188Q |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,801,091 (GRCm39) |
I446F |
possibly damaging |
Het |
| Ankrd34c |
T |
C |
9: 89,611,850 (GRCm39) |
T164A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,992,095 (GRCm39) |
R1219L |
possibly damaging |
Het |
| Cdk2ap1 |
C |
T |
5: 124,488,242 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,679,733 (GRCm39) |
F409L |
probably benign |
Het |
| Clcc1 |
G |
A |
3: 108,584,112 (GRCm39) |
A499T |
probably benign |
Het |
| Foxm1 |
T |
G |
6: 128,350,451 (GRCm39) |
I584S |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,415,963 (GRCm39) |
I199T |
probably damaging |
Het |
| Gjb6 |
C |
A |
14: 57,361,815 (GRCm39) |
A149S |
probably benign |
Het |
| H2-M2 |
A |
T |
17: 37,792,406 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,501,069 (GRCm39) |
|
probably benign |
Het |
| Os9 |
A |
G |
10: 126,935,972 (GRCm39) |
Y258H |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,318,862 (GRCm39) |
F337S |
possibly damaging |
Het |
| Pla2g4a |
T |
G |
1: 149,733,405 (GRCm39) |
Y448S |
probably benign |
Het |
| Tek |
T |
C |
4: 94,747,148 (GRCm39) |
Y903H |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,534,611 (GRCm39) |
H1752Q |
possibly damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,428 (GRCm39) |
R750Q |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,260,530 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,355,036 (GRCm39) |
N1245S |
probably benign |
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 |
|
IGL00906:Sgk3
|
APN |
1 |
9,947,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-01-21 |
Incidental Mutation