Incidental Mutation 'IGL03278:Stk24'
| ID |
415473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stk24
|
| Ensembl Gene |
ENSMUSG00000063410 |
| Gene Name |
serine/threonine kinase 24 |
| Synonyms |
1810013H02Rik, STE20 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
IGL03278
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
121523755-121617423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121540182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 139
(K139R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079817]
|
| AlphaFold |
Q99KH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079817
AA Change: K139R
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: K139R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227273
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
| Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
C |
T |
15: 82,015,682 (GRCm39) |
A54V |
possibly damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,212,622 (GRCm39) |
S79T |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
| Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
| F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
| Gabrb1 |
T |
G |
5: 72,026,939 (GRCm39) |
D113E |
probably damaging |
Het |
| Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
| Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
| H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
| Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
| Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
| Pld4 |
A |
G |
12: 112,733,165 (GRCm39) |
N247S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
| Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
| Rabl6 |
T |
C |
2: 25,473,834 (GRCm39) |
|
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,122,059 (GRCm39) |
V154E |
probably benign |
Het |
| Slc38a9 |
T |
G |
13: 112,826,052 (GRCm39) |
|
probably benign |
Het |
| Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
| Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
| Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,692,557 (GRCm39) |
Y120F |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8288:Stk24
|
UTSW |
14 |
121,530,841 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation