Incidental Mutation 'R0034:Sgk3'
| ID |
64570 |
| 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: 0.327)
|
| Stock # |
R0034 (G1)
|
| Quality Score |
162 |
|
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: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
C |
T |
7: 136,989,321 (GRCm39) |
R60Q |
probably benign |
Het |
| Angpt4 |
C |
T |
2: 151,771,311 (GRCm39) |
T209I |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,616,393 (GRCm39) |
|
probably benign |
Het |
| Aplp1 |
A |
C |
7: 30,143,867 (GRCm39) |
V56G |
probably damaging |
Het |
| Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,846 (GRCm38) |
H844L |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,859,288 (GRCm39) |
Y56H |
probably benign |
Het |
| Cd300lb |
C |
T |
11: 114,819,225 (GRCm39) |
V135I |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
| Cfap74 |
C |
T |
4: 155,545,344 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,175,708 (GRCm39) |
I47L |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,774,808 (GRCm39) |
T200A |
probably benign |
Het |
| Exoc1l |
A |
G |
5: 76,664,377 (GRCm39) |
I155M |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,262,973 (GRCm39) |
M795K |
probably benign |
Het |
| Gabpb1 |
C |
T |
2: 126,500,454 (GRCm39) |
R15Q |
possibly damaging |
Het |
| Gata4 |
C |
A |
14: 63,438,933 (GRCm39) |
M381I |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,058,282 (GRCm39) |
S446P |
possibly damaging |
Het |
| Gnb1 |
T |
A |
4: 155,636,146 (GRCm39) |
N155K |
probably benign |
Het |
| Haspin |
G |
A |
11: 73,029,044 (GRCm39) |
T15M |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,971,955 (GRCm39) |
L745P |
probably damaging |
Het |
| Kcng3 |
T |
A |
17: 83,895,812 (GRCm39) |
|
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,828,350 (GRCm39) |
N887I |
possibly damaging |
Het |
| Kif26a |
T |
C |
12: 112,135,397 (GRCm39) |
|
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
| Kifc2 |
G |
T |
15: 76,551,300 (GRCm39) |
C613F |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,381,520 (GRCm39) |
I3826N |
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,093,913 (GRCm39) |
S2006P |
probably damaging |
Het |
| Or51m1 |
T |
C |
7: 103,578,708 (GRCm39) |
V226A |
probably benign |
Het |
| Pax4 |
T |
C |
6: 28,442,448 (GRCm39) |
T285A |
probably benign |
Het |
| Pcdhb5 |
A |
G |
18: 37,455,137 (GRCm39) |
N506D |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,367,405 (GRCm39) |
G768S |
probably benign |
Het |
| Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
| Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
| Poteg |
A |
G |
8: 27,952,105 (GRCm39) |
|
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 |
| Rhobtb2 |
T |
C |
14: 70,026,137 (GRCm39) |
T602A |
probably benign |
Het |
| Samd3 |
G |
A |
10: 26,147,398 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
C |
10: 79,894,174 (GRCm39) |
|
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,759 (GRCm39) |
V96A |
probably benign |
Het |
| Senp7 |
A |
C |
16: 55,973,933 (GRCm39) |
S385R |
possibly damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,938,392 (GRCm39) |
M467K |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,779,618 (GRCm39) |
I66T |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,058,752 (GRCm39) |
|
probably null |
Het |
| Tfrc |
T |
A |
16: 32,434,214 (GRCm39) |
|
probably null |
Het |
| Tmem30b |
T |
C |
12: 73,592,779 (GRCm39) |
Y112C |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,631,814 (GRCm39) |
S43P |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
| Uroc1 |
T |
C |
6: 90,322,292 (GRCm39) |
V272A |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,738 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,435 (GRCm39) |
W364R |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,221,556 (GRCm39) |
T377K |
possibly damaging |
Het |
| Zfta |
C |
A |
19: 7,397,724 (GRCm39) |
H90Q |
probably damaging |
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCCAAggatataactcggtaggta -3'
(R):5'- GCCCGTACAGCATCTCATACAGAACA -3'
Sequencing Primer
(F):5'- tcacctcacttaaaaaacaaacaaac -3'
(R):5'- TTGAGGCTGTCACAACCAGTG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation