Incidental Mutation 'R1309:Stk24'
| ID |
157888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk24
|
| Ensembl Gene |
ENSMUSG00000063410 |
| Gene Name |
serine/threonine kinase 24 |
| Synonyms |
1810013H02Rik, STE20 |
| MMRRC Submission |
039375-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R1309 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
121523755-121617423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121540198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 134
(Y134H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079817]
|
| AlphaFold |
Q99KH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079817
AA Change: Y134H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: Y134H
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Angptl2 |
G |
A |
2: 33,136,140 (GRCm39) |
A442T |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,713,163 (GRCm39) |
I709V |
possibly damaging |
Het |
| Asb2 |
A |
G |
12: 103,291,667 (GRCm39) |
V372A |
probably benign |
Het |
| Ccm2l |
A |
T |
2: 152,912,844 (GRCm39) |
I129F |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,541,566 (GRCm39) |
I433F |
possibly damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,510,831 (GRCm39) |
|
probably null |
Het |
| Dhx37 |
C |
T |
5: 125,494,502 (GRCm39) |
W944* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,115,610 (GRCm39) |
L939P |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,288 (GRCm39) |
T216A |
possibly damaging |
Het |
| Lmnb1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
18: 56,872,976 (GRCm39) |
|
probably null |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Prep |
A |
G |
10: 45,002,122 (GRCm39) |
T426A |
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,570,599 (GRCm39) |
|
probably null |
Het |
| Spag6 |
A |
G |
2: 18,739,027 (GRCm39) |
Y319C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,937,512 (GRCm39) |
I1179V |
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,125,400 (GRCm39) |
E274G |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,769,100 (GRCm39) |
F87Y |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGGACCCCTAAGAGCAAGCTG -3'
(R):5'- CATCCGTTTATCCATCCACACCAGG -3'
Sequencing Primer
(F):5'- gtggcacacggctttaac -3'
(R):5'- AGTTAGAGCCTGGCCCTTTA -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation