Incidental Mutation 'R4954:Stk4'
| ID |
381456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk4
|
| Ensembl Gene |
ENSMUSG00000018209 |
| Gene Name |
serine/threonine kinase 4 |
| Synonyms |
sterile 20-like kinase 1, Kas-2, Ysk3, Mst1 |
| MMRRC Submission |
042551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4954 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163916033-163997444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 163993602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 78
(W78R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018353]
[ENSMUST00000088291]
|
| AlphaFold |
Q9JI11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018353
AA Change: W439R
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018353
Gene: ENSMUSG00000018209
AA Change: W439R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
30 |
281 |
1.97e-104 |
SMART |
|
low complexity region
|
311 |
326 |
N/A |
INTRINSIC |
|
Pfam:Mst1_SARAH
|
433 |
480 |
2.4e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088291
AA Change: W78R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085629
Gene: ENSMUSG00000018209
AA Change: W78R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Pfam:Mst1_SARAH
|
71 |
119 |
3e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.3527 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele have low numbers of na�ve T cells that are hyper-responsive to stimulation. Mice homozygous for knock-out alleles exhibit decreased peripheral T cell numbers due to impaired emigration and homing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Alk |
C |
T |
17: 72,209,687 (GRCm39) |
W919* |
probably null |
Het |
| Aoc3 |
G |
A |
11: 101,222,925 (GRCm39) |
G387D |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,376,694 (GRCm39) |
C441S |
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,176,008 (GRCm39) |
E100* |
probably null |
Het |
| Ate1 |
C |
T |
7: 130,110,748 (GRCm39) |
G186D |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,919,026 (GRCm39) |
L1948H |
probably damaging |
Het |
| Bmp2k |
C |
T |
5: 97,234,623 (GRCm39) |
|
probably benign |
Het |
| Ccin |
A |
T |
4: 43,985,077 (GRCm39) |
I495F |
probably benign |
Het |
| Cir1 |
T |
A |
2: 73,140,848 (GRCm39) |
E40D |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,765 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
A |
G |
1: 138,981,124 (GRCm39) |
T113A |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,430,322 (GRCm39) |
P79S |
possibly damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,219,645 (GRCm39) |
D99G |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,077,829 (GRCm39) |
I596N |
probably damaging |
Het |
| Eps15 |
G |
A |
4: 109,227,875 (GRCm39) |
|
probably null |
Het |
| Ext1 |
T |
C |
15: 53,207,888 (GRCm39) |
D291G |
probably damaging |
Het |
| Gm12883 |
T |
C |
4: 121,252,198 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9921 |
A |
G |
12: 45,484,383 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
C |
A |
17: 36,352,851 (GRCm39) |
W85C |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,422,397 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
T |
A |
3: 40,739,832 (GRCm39) |
|
probably null |
Het |
| Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
| Kpna1 |
T |
C |
16: 35,853,696 (GRCm39) |
V442A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Musk |
C |
T |
4: 58,344,222 (GRCm39) |
T285I |
probably damaging |
Het |
| Myorg |
G |
A |
4: 41,498,241 (GRCm39) |
A463V |
possibly damaging |
Het |
| Nbea |
T |
G |
3: 55,943,379 (GRCm39) |
Q632P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,907,706 (GRCm39) |
V1105A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,067,530 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,061,318 (GRCm39) |
K970* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,917,302 (GRCm39) |
|
probably benign |
Het |
| Or13g1 |
T |
C |
7: 85,955,809 (GRCm39) |
I171V |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,213,318 (GRCm39) |
M259V |
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,414 (GRCm39) |
I94V |
probably damaging |
Het |
| Otos |
T |
C |
1: 92,572,167 (GRCm39) |
Y53C |
probably damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,252 (GRCm39) |
C376* |
probably null |
Het |
| Pate12 |
A |
T |
9: 36,344,156 (GRCm39) |
K46N |
probably benign |
Het |
| Phf14 |
C |
A |
6: 11,987,619 (GRCm39) |
Q633K |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,700,602 (GRCm39) |
N1778I |
probably damaging |
Het |
| Psmc3 |
C |
T |
2: 90,885,974 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,544,274 (GRCm39) |
I177F |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,539,003 (GRCm39) |
D307G |
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,566,685 (GRCm39) |
V648I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,587,725 (GRCm39) |
V1340M |
possibly damaging |
Het |
| Sema7a |
T |
C |
9: 57,863,663 (GRCm39) |
W279R |
probably damaging |
Het |
| Slc2a10 |
A |
T |
2: 165,356,675 (GRCm39) |
I112F |
probably damaging |
Het |
| Syf2 |
T |
A |
4: 134,662,283 (GRCm39) |
L99* |
probably null |
Het |
| Tas2r104 |
A |
T |
6: 131,661,968 (GRCm39) |
I247K |
probably damaging |
Het |
| Usp15 |
G |
T |
10: 122,967,303 (GRCm39) |
R368S |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,047,905 (GRCm39) |
L20F |
probably benign |
Het |
| Zcchc4 |
A |
T |
5: 52,976,559 (GRCm39) |
H451L |
probably damaging |
Het |
|
| Other mutations in Stk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Stk4
|
APN |
2 |
163,959,999 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01583:Stk4
|
APN |
2 |
163,916,134 (GRCm39) |
start codon destroyed |
probably null |
0.21 |
|
IGL01933:Stk4
|
APN |
2 |
163,940,505 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02084:Stk4
|
APN |
2 |
163,928,527 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02423:Stk4
|
APN |
2 |
163,928,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02601:Stk4
|
APN |
2 |
163,928,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02712:Stk4
|
APN |
2 |
163,938,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hallon
|
UTSW |
2 |
163,941,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
iwo_jima
|
UTSW |
2 |
163,930,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
ribeye
|
UTSW |
2 |
163,921,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sergeant
|
UTSW |
2 |
163,941,632 (GRCm39) |
missense |
probably benign |
|
|
stryker
|
UTSW |
2 |
163,925,608 (GRCm39) |
nonsense |
probably null |
|
|
R0377:Stk4
|
UTSW |
2 |
163,938,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Stk4
|
UTSW |
2 |
163,940,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1403:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1404:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1404:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1405:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1405:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1406:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1406:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1972:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1973:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1976:Stk4
|
UTSW |
2 |
163,942,448 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2025:Stk4
|
UTSW |
2 |
163,938,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3155:Stk4
|
UTSW |
2 |
163,993,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3732:Stk4
|
UTSW |
2 |
163,930,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3732:Stk4
|
UTSW |
2 |
163,930,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3733:Stk4
|
UTSW |
2 |
163,930,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3734:Stk4
|
UTSW |
2 |
163,930,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4288:Stk4
|
UTSW |
2 |
163,941,632 (GRCm39) |
missense |
probably benign |
|
|
R4296:Stk4
|
UTSW |
2 |
163,959,904 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4360:Stk4
|
UTSW |
2 |
163,930,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4829:Stk4
|
UTSW |
2 |
163,941,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4954:Stk4
|
UTSW |
2 |
163,993,601 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5088:Stk4
|
UTSW |
2 |
163,925,608 (GRCm39) |
nonsense |
probably null |
|
|
R5188:Stk4
|
UTSW |
2 |
163,930,828 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5283:Stk4
|
UTSW |
2 |
163,952,199 (GRCm39) |
nonsense |
probably null |
|
|
R5554:Stk4
|
UTSW |
2 |
163,941,645 (GRCm39) |
missense |
probably benign |
|
|
R5605:Stk4
|
UTSW |
2 |
163,921,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Stk4
|
UTSW |
2 |
163,942,484 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5711:Stk4
|
UTSW |
2 |
163,941,674 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7453:Stk4
|
UTSW |
2 |
163,928,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7698:Stk4
|
UTSW |
2 |
163,925,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Stk4
|
UTSW |
2 |
163,952,146 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8177:Stk4
|
UTSW |
2 |
163,930,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9076:Stk4
|
UTSW |
2 |
163,959,985 (GRCm39) |
missense |
probably benign |
|
|
R9378:Stk4
|
UTSW |
2 |
163,952,136 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAGCTCTGTGGTTGTGG -3'
(R):5'- GAGTTCACAAAGGTGCTGTG -3'
Sequencing Primer
(F):5'- GGTCATTGGAATTAGCTCTTGC -3'
(R):5'- TGAGTCTAGCAACCCAGAAGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation