Incidental Mutation 'R4302:Stk24'
| ID |
322467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk24
|
| Ensembl Gene |
ENSMUSG00000063410 |
| Gene Name |
serine/threonine kinase 24 |
| Synonyms |
1810013H02Rik, STE20 |
| MMRRC Submission |
041089-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R4302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
121523755-121617423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121529494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 386
(L386S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079817]
|
| AlphaFold |
Q99KH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079817
AA Change: L386S
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: L386S
| 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: ENSMUST00000227273
|
| Meta Mutation Damage Score |
0.1268 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,929,645 (GRCm39) |
Q217* |
probably null |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,823,664 (GRCm39) |
I183V |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,077,880 (GRCm39) |
S2941T |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Hcfc1 |
A |
G |
X: 72,992,972 (GRCm39) |
S1398P |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,226,171 (GRCm39) |
I2501V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Mgam |
A |
G |
6: 40,740,019 (GRCm39) |
D1664G |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,456 (GRCm39) |
T179S |
probably damaging |
Het |
| Ncf4 |
T |
C |
15: 78,144,962 (GRCm39) |
|
probably benign |
Het |
| Nol12 |
T |
C |
15: 78,824,341 (GRCm39) |
S154P |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,484,875 (GRCm39) |
S50P |
probably benign |
Het |
| Or11j4 |
T |
C |
14: 50,630,903 (GRCm39) |
I230T |
probably benign |
Het |
| Or12d16-ps1 |
T |
A |
17: 37,706,377 (GRCm39) |
N315K |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,295 (GRCm39) |
T29A |
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rhpn2 |
A |
G |
7: 35,090,270 (GRCm39) |
T631A |
probably benign |
Het |
| Rps11 |
T |
C |
7: 44,772,368 (GRCm39) |
M80V |
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,097,031 (GRCm39) |
Y104H |
probably benign |
Het |
| Sgsm3 |
T |
A |
15: 80,894,502 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,365,154 (GRCm39) |
L162F |
probably benign |
Het |
| Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
| Tfcp2 |
G |
T |
15: 100,412,730 (GRCm39) |
N307K |
possibly damaging |
Het |
| Trbv21 |
T |
A |
6: 41,179,702 (GRCm39) |
V6D |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r38 |
A |
G |
7: 9,100,562 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
A |
16: 21,314,664 (GRCm39) |
L158Q |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTAAGAAGCCGTGCCAG -3'
(R):5'- CTGGTCTGGAAGAGTCACTG -3'
Sequencing Primer
(F):5'- GTGCCAGCACCACCAGG -3'
(R):5'- GAAGAGTCACTGTGTATGTAACTGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation