Incidental Mutation 'R8288:Stk24'
| ID |
638543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk24
|
| Ensembl Gene |
ENSMUSG00000063410 |
| Gene Name |
serine/threonine kinase 24 |
| Synonyms |
1810013H02Rik, STE20 |
| MMRRC Submission |
067710-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R8288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
121523755-121617423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121530841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 372
(F372V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079817]
|
| AlphaFold |
Q99KH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079817
AA Change: F372V
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: F372V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
274 |
3.18e-99 |
SMART |
|
low complexity region
|
297 |
324 |
N/A |
INTRINSIC |
|
PDB:3W8H|B
|
356 |
422 |
1e-20 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: A hypomorphic mutation increases degranulation of, and exocytosis by, neutrophils. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
C |
T |
8: 23,283,153 (GRCm39) |
A200T |
probably benign |
Het |
| Arpp19 |
T |
C |
9: 74,944,914 (GRCm39) |
M1T |
probably null |
Het |
| Baiap2 |
T |
A |
11: 119,888,465 (GRCm39) |
V407E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,446,073 (GRCm39) |
T508A |
probably damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,551,074 (GRCm39) |
A28E |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,319,531 (GRCm39) |
C184* |
probably null |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,620,762 (GRCm39) |
V498A |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,845,332 (GRCm39) |
Y442H |
probably damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,177,345 (GRCm39) |
F811S |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,502,604 (GRCm39) |
M722K |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,337,509 (GRCm39) |
F603S |
probably damaging |
Het |
| Filip1l |
C |
T |
16: 57,390,917 (GRCm39) |
R502C |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,253,599 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,931,815 (GRCm39) |
Y98C |
|
Het |
| Gstz1 |
A |
G |
12: 87,194,604 (GRCm39) |
M1V |
probably null |
Het |
| Hsd17b13 |
T |
G |
5: 104,111,701 (GRCm39) |
I281L |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,233,661 (GRCm39) |
E1833G |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,682 (GRCm39) |
Q845* |
probably null |
Het |
| Kctd11 |
C |
T |
11: 69,770,883 (GRCm39) |
G52R |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,815,149 (GRCm39) |
S962P |
probably damaging |
Het |
| Lrrn1 |
C |
T |
6: 107,543,955 (GRCm39) |
|
probably benign |
Het |
| Mastl |
T |
C |
2: 23,023,371 (GRCm39) |
K451E |
probably damaging |
Het |
| Mptx2 |
A |
G |
1: 173,102,356 (GRCm39) |
V111A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,255,579 (GRCm39) |
C178F |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,374,047 (GRCm39) |
R71H |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,762,885 (GRCm39) |
T501K |
|
Het |
| Pla2g4e |
C |
T |
2: 120,018,990 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
G |
16: 36,848,272 (GRCm39) |
E293G |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,748,763 (GRCm39) |
E782K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,318 (GRCm39) |
R1524W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,203,237 (GRCm39) |
S46P |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,130,528 (GRCm39) |
I664N |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,246,973 (GRCm39) |
S881G |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,210 (GRCm39) |
D161G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,860,643 (GRCm39) |
H234R |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,603,434 (GRCm39) |
K366R |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,316 (GRCm39) |
L189P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,512,509 (GRCm39) |
S140G |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,711,885 (GRCm39) |
E36G |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,908 (GRCm39) |
H361L |
possibly damaging |
Het |
|
| Other mutations in Stk24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Stk24
|
APN |
14 |
121,540,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02886:Stk24
|
APN |
14 |
121,529,527 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03278:Stk24
|
APN |
14 |
121,540,182 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Megatron
|
UTSW |
14 |
121,545,419 (GRCm39) |
splice site |
probably benign |
|
|
R0018:Stk24
|
UTSW |
14 |
121,545,419 (GRCm39) |
splice site |
probably benign |
|
|
R1309:Stk24
|
UTSW |
14 |
121,540,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1446:Stk24
|
UTSW |
14 |
121,545,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Stk24
|
UTSW |
14 |
121,545,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1673:Stk24
|
UTSW |
14 |
121,574,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Stk24
|
UTSW |
14 |
121,539,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4302:Stk24
|
UTSW |
14 |
121,529,494 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4716:Stk24
|
UTSW |
14 |
121,532,130 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4865:Stk24
|
UTSW |
14 |
121,530,866 (GRCm39) |
nonsense |
probably null |
|
|
R5381:Stk24
|
UTSW |
14 |
121,531,645 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5540:Stk24
|
UTSW |
14 |
121,531,693 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6017:Stk24
|
UTSW |
14 |
121,539,657 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6913:Stk24
|
UTSW |
14 |
121,540,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Stk24
|
UTSW |
14 |
121,531,706 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7251:Stk24
|
UTSW |
14 |
121,545,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Stk24
|
UTSW |
14 |
121,539,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7587:Stk24
|
UTSW |
14 |
121,539,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7771:Stk24
|
UTSW |
14 |
121,575,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8528:Stk24
|
UTSW |
14 |
121,529,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF008:Stk24
|
UTSW |
14 |
121,532,172 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTCACCTGCCTGGCTTAC -3'
(R):5'- AGTTCACTCCTGGTGCCATG -3'
Sequencing Primer
(F):5'- ACCTGCCTGGCTTACGGAAG -3'
(R):5'- TTGTAGAGTCTTCCCTCAGAGATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation