Incidental Mutation 'R6778:Sgk3'
| ID |
531355 |
| 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 |
044894-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R6778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
9868332-9971070 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 9956369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097826]
[ENSMUST00000166384]
[ENSMUST00000168907]
[ENSMUST00000171265]
[ENSMUST00000188298]
[ENSMUST00000188738]
[ENSMUST00000188782]
|
| AlphaFold |
Q9ERE3 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 |
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
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
A |
10: 61,061,231 (GRCm39) |
N403Y |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,072,599 (GRCm39) |
E989G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,187 (GRCm39) |
N90S |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,288,533 (GRCm39) |
Y278C |
probably benign |
Het |
| Casq2 |
T |
A |
3: 102,035,247 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,547,601 (GRCm39) |
T1284S |
possibly damaging |
Het |
| Dlat |
A |
G |
9: 50,562,157 (GRCm39) |
L289P |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,854,640 (GRCm39) |
P101S |
probably benign |
Het |
| Dzip3 |
C |
A |
16: 48,802,446 (GRCm39) |
A28S |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,102,112 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fubp3 |
A |
T |
2: 31,488,685 (GRCm39) |
K180N |
possibly damaging |
Het |
| Gm7489 |
T |
A |
15: 53,749,348 (GRCm39) |
|
probably benign |
Het |
| Ifitm6 |
A |
T |
7: 140,596,056 (GRCm39) |
M59K |
possibly damaging |
Het |
| Igkv4-80 |
A |
T |
6: 68,993,545 (GRCm39) |
Y115* |
probably null |
Het |
| Igsf21 |
G |
T |
4: 139,761,959 (GRCm39) |
R240S |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,649,742 (GRCm39) |
N942K |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,021,630 (GRCm39) |
T35K |
possibly damaging |
Het |
| Mvk |
T |
A |
5: 114,590,441 (GRCm39) |
D193E |
probably benign |
Het |
| Npas2 |
T |
A |
1: 39,364,381 (GRCm39) |
M241K |
possibly damaging |
Het |
| Npsr1 |
T |
A |
9: 24,165,914 (GRCm39) |
I100N |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,472,639 (GRCm39) |
D50G |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,043 (GRCm39) |
V7E |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,965,645 (GRCm39) |
D604G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,012,392 (GRCm39) |
P254L |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,408 (GRCm39) |
F56S |
probably damaging |
Het |
| Rin1 |
T |
C |
19: 5,104,914 (GRCm39) |
L647P |
probably damaging |
Het |
| Sgpp1 |
A |
G |
12: 75,763,068 (GRCm39) |
I371T |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,313,343 (GRCm39) |
Y872C |
possibly damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,522 (GRCm39) |
K367R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,052,406 (GRCm39) |
F7487L |
probably damaging |
Het |
| Tars1 |
T |
C |
15: 11,389,785 (GRCm39) |
N375S |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,801,425 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,946 (GRCm39) |
F73L |
probably benign |
Het |
| Tmem145 |
G |
A |
7: 25,010,801 (GRCm39) |
V378I |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,457,209 (GRCm39) |
H150R |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,913,835 (GRCm39) |
I1326L |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,500 (GRCm39) |
Y502C |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,916,512 (GRCm39) |
I811V |
probably benign |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,143 (GRCm39) |
A182T |
probably benign |
Het |
| Wdr47 |
T |
A |
3: 108,540,412 (GRCm39) |
N602K |
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 |
|
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 |
|
|
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'- GGTTGTGACAGCCTCAAGAC -3'
(R):5'- GGAACACCGAAATTACATATTGGTG -3'
Sequencing Primer
(F):5'- CTTCTTTAGTGTGAGTAACAGTACC -3'
(R):5'- TGGTGTTTGAAAGTAATGAAGCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation