Incidental Mutation 'R8949:Sgk3'
| ID |
736054 |
| 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 |
068787-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.327)
|
| Stock # |
R8949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9868332-9971070 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 9938699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095437
Gene: ENSMUSG00000025915
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130078
Gene: ENSMUSG00000025915
| 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
|
| SMART Domains |
Protein: ENSMUSP00000126861
Gene: ENSMUSG00000025915
| 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
|
| SMART Domains |
Protein: ENSMUSP00000127462
Gene: ENSMUSG00000025915
| 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 |
unknown
Transcript: ENSMUST00000188298
AA Change: D63G
|
| SMART Domains |
Protein: ENSMUSP00000139942
Gene: ENSMUSG00000025915
AA Change: D63G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
11 |
66 |
4.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188738
|
| SMART Domains |
Protein: ENSMUSP00000140496
Gene: ENSMUSG00000025915
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140318
Gene: ENSMUSG00000025915
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
13 |
120 |
2.4e-21 |
SMART |
|
S_TKc
|
162 |
343 |
4.3e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
A |
5: 90,679,374 (GRCm39) |
C289* |
probably null |
Het |
| Agpat3 |
A |
G |
10: 78,118,989 (GRCm39) |
Y202H |
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,715,479 (GRCm39) |
*394R |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,091,377 (GRCm39) |
H1037Q |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,941,238 (GRCm39) |
Y1504C |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,152 (GRCm39) |
N195S |
probably benign |
Het |
| Bmpr1b |
T |
G |
3: 141,586,203 (GRCm39) |
S20R |
possibly damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,906,860 (GRCm39) |
P651L |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,026,705 (GRCm39) |
D549E |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,130 (GRCm39) |
L210P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,581,970 (GRCm39) |
R1427L |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Dhx32 |
A |
T |
7: 133,344,470 (GRCm39) |
Y46* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,059,226 (GRCm39) |
L23P |
possibly damaging |
Het |
| Eef2 |
T |
A |
10: 81,014,518 (GRCm39) |
V135E |
probably damaging |
Het |
| Eef2k |
A |
T |
7: 120,491,211 (GRCm39) |
I2F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,396,926 (GRCm39) |
|
probably null |
Het |
| Hr |
T |
C |
14: 70,795,328 (GRCm39) |
I320T |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,100,017 (GRCm39) |
I288V |
probably benign |
Het |
| Ighv1-31 |
T |
C |
12: 114,793,036 (GRCm39) |
I67V |
probably benign |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,703 (GRCm39) |
Y88C |
unknown |
Het |
| Ksr2 |
T |
C |
5: 117,823,560 (GRCm39) |
C446R |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,221,929 (GRCm39) |
W1537R |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,425,405 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,723,882 (GRCm39) |
H288R |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,668,714 (GRCm39) |
V136A |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,432,221 (GRCm39) |
|
probably null |
Het |
| Ndufv3 |
A |
G |
17: 31,746,742 (GRCm39) |
K211E |
possibly damaging |
Het |
| Nkiras2 |
A |
T |
11: 100,510,158 (GRCm39) |
|
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,251,971 (GRCm39) |
E396G |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,379 (GRCm39) |
F276L |
probably damaging |
Het |
| Or52a33 |
A |
T |
7: 103,288,702 (GRCm39) |
I215K |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,072,490 (GRCm39) |
M1K |
probably null |
Het |
| Phaf1 |
T |
A |
8: 105,976,075 (GRCm39) |
I344K |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,894,612 (GRCm39) |
Y544C |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,161,964 (GRCm39) |
E307G |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,931,296 (GRCm39) |
Q498H |
probably benign |
Het |
| Smpdl3b |
T |
C |
4: 132,473,814 (GRCm39) |
K84E |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,123,753 (GRCm39) |
F3086L |
probably benign |
Het |
| Spcs2 |
A |
G |
7: 99,493,923 (GRCm39) |
S186P |
probably benign |
Het |
| Speer4e2 |
C |
T |
5: 15,026,212 (GRCm39) |
|
probably null |
Het |
| Steap1 |
A |
T |
5: 5,789,940 (GRCm39) |
D24E |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,054,604 (GRCm39) |
E3328G |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,054 (GRCm39) |
|
probably null |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,399 (GRCm39) |
V358A |
probably benign |
Het |
| Tecrl |
C |
T |
5: 83,461,154 (GRCm39) |
R101Q |
probably benign |
Het |
| Tmem184a |
C |
A |
5: 139,791,311 (GRCm39) |
A426S |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,927,087 (GRCm39) |
D813G |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,547,182 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,975 (GRCm39) |
I547T |
probably damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,920 (GRCm39) |
D24G |
possibly damaging |
Het |
| Wfs1 |
C |
T |
5: 37,124,287 (GRCm39) |
R792H |
probably damaging |
Het |
| Zfp607a |
A |
G |
7: 27,577,944 (GRCm39) |
D338G |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,450,771 (GRCm39) |
R114C |
possibly 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 |
|
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 |
|
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'- ACAGTTACCAGCTTTTGTGTATGG -3'
(R):5'- TTGTGTCTAATGTCACCTGCACTG -3'
Sequencing Primer
(F):5'- ACCAGCTTTTGTGTATGGTTTCTTTG -3'
(R):5'- GTCACCTGCACTGAAATATCCTTGAG -3'
|
| Posted On |
2023-03-15 |
Incidental Mutation