Incidental Mutation 'R0034:Sgk3'
| ID |
15417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgk3
|
| Ensembl Gene |
ENSMUSG00000025915 |
| Gene Name |
serum/glucocorticoid regulated kinase 3 |
| Synonyms |
cytokine-independent survival kinase, fy, A330005P07Rik, 2510015P22Rik, Cisk |
| MMRRC Submission |
038328-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R0034 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9868332-9971070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9955902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 301
(V301A)
|
| 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: V301A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095437
Gene: ENSMUSG00000025915
AA Change: V301A
| 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: V301A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130078
Gene: ENSMUSG00000025915
AA Change: V301A
| 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: V301A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126861
Gene: ENSMUSG00000025915
AA Change: V301A
| 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: V301A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127462
Gene: ENSMUSG00000025915
AA Change: V301A
| 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: V301A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140496
Gene: ENSMUSG00000025915
AA Change: V301A
| 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: V301A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140318
Gene: ENSMUSG00000025915
AA Change: V301A
| 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
|
| Meta Mutation Damage Score |
0.1146 |
| Coding Region Coverage |
- 1x: 76.6%
- 3x: 64.3%
- 10x: 35.1%
- 20x: 16.8%
|
| Validation Efficiency |
87% (59/68) |
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
| Chrna7 |
T |
G |
7: 62,798,354 (GRCm39) |
K109N |
possibly damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
| Farp1 |
A |
G |
14: 121,492,841 (GRCm39) |
H481R |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
T |
A |
17: 75,354,563 (GRCm39) |
|
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
C |
A |
6: 85,794,868 (GRCm39) |
A31S |
probably benign |
Het |
| Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
| Plcz1 |
A |
T |
6: 139,966,174 (GRCm39) |
|
probably benign |
Het |
| Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,084,883 (GRCm39) |
I115V |
probably benign |
Het |
| Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
| Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,523,627 (GRCm39) |
L137P |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
| Usp50 |
T |
C |
2: 126,619,895 (GRCm39) |
E139G |
possibly damaging |
Het |
| Zfp949 |
A |
T |
9: 88,449,693 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
probably damaging |
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 |
|
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 |
|
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 |
2012-12-17 |
Incidental Mutation