Incidental Mutation 'R8996:Stk3'
| ID |
684737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk3
|
| Ensembl Gene |
ENSMUSG00000022329 |
| Gene Name |
serine/threonine kinase 3 |
| Synonyms |
Ste20, 0610042I06Rik, Mst2, MST, mess1 |
| MMRRC Submission |
068827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
34875645-35155990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34945208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 427
(S427P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018476]
[ENSMUST00000067033]
[ENSMUST00000226555]
|
| AlphaFold |
Q9JI10 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018476
AA Change: S427P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: S427P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
S_TKc
|
27 |
278 |
4.16e-103 |
SMART |
|
low complexity region
|
301 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
381 |
N/A |
INTRINSIC |
|
Pfam:Mst1_SARAH
|
443 |
490 |
9.6e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067033
AA Change: S357P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329
AA Change: S357P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
5 |
205 |
2.1e-41 |
PFAM |
|
Pfam:Pkinase
|
5 |
208 |
1.2e-56 |
PFAM |
|
coiled coil region
|
217 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
311 |
N/A |
INTRINSIC |
|
Pfam:Mst1_SARAH
|
372 |
420 |
9.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226555
AA Change: S425P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| 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 activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous inactivation of this gene generally results in mice that are viable, fertile and developmentally normal. A small subset of mice homozygous for a knock-out allele develop mammary tumors in the absence of immunological defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,769,069 (GRCm39) |
I764V |
probably benign |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
C |
16: 52,126,114 (GRCm39) |
I68V |
probably benign |
Het |
| Atp8b2 |
A |
G |
3: 89,850,696 (GRCm39) |
L75P |
probably damaging |
Het |
| B3gnt6 |
T |
C |
7: 97,842,799 (GRCm39) |
N387S |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,662,831 (GRCm39) |
E373G |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,941,347 (GRCm39) |
H1831Y |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,255,945 (GRCm39) |
C564* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,823,543 (GRCm39) |
W1276R |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,971,105 (GRCm39) |
E3070G |
possibly damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,538 (GRCm39) |
I41T |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,323,242 (GRCm39) |
N583K |
probably damaging |
Het |
| Fignl1 |
G |
T |
11: 11,752,953 (GRCm39) |
P34Q |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,085 (GRCm39) |
D138G |
probably damaging |
Het |
| Gabra4 |
A |
T |
5: 71,729,046 (GRCm39) |
M578K |
possibly damaging |
Het |
| Gnb5 |
T |
C |
9: 75,251,805 (GRCm39) |
V351A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,531 (GRCm39) |
I245F |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igkv4-54 |
A |
T |
6: 69,608,774 (GRCm39) |
Y48* |
probably null |
Het |
| Kdm7a |
A |
C |
6: 39,129,786 (GRCm39) |
H463Q |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 68,769,997 (GRCm39) |
T256A |
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,212,484 (GRCm39) |
D17G |
probably damaging |
Het |
| Mis18bp1 |
C |
T |
12: 65,180,632 (GRCm39) |
V950I |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,598,884 (GRCm39) |
|
probably null |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,945 (GRCm39) |
T219A |
probably benign |
Het |
| Nptx1 |
G |
A |
11: 119,438,394 (GRCm39) |
R8C |
unknown |
Het |
| Plcxd1 |
A |
G |
5: 110,250,444 (GRCm39) |
T262A |
probably benign |
Het |
| Sf1 |
G |
A |
19: 6,426,441 (GRCm39) |
G221S |
|
Het |
| Shkbp1 |
A |
G |
7: 27,042,844 (GRCm39) |
V531A |
possibly damaging |
Het |
| Slc12a3 |
A |
T |
8: 95,056,063 (GRCm39) |
E66D |
probably benign |
Het |
| Slc14a1 |
A |
T |
18: 78,156,911 (GRCm39) |
I198K |
possibly damaging |
Het |
| Spag8 |
T |
C |
4: 43,651,998 (GRCm39) |
E362G |
probably damaging |
Het |
| Speer4c1 |
T |
A |
5: 15,915,886 (GRCm39) |
I161L |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,073,065 (GRCm39) |
K814E |
unknown |
Het |
| Synpo |
T |
A |
18: 60,737,230 (GRCm39) |
I239F |
possibly damaging |
Het |
| Tcf7l1 |
G |
T |
6: 72,765,563 (GRCm39) |
R97S |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,887,247 (GRCm39) |
Y56N |
probably benign |
Het |
| Ttc39c |
A |
G |
18: 12,820,136 (GRCm39) |
N112S |
probably benign |
Het |
| Usp14 |
T |
C |
18: 10,000,521 (GRCm39) |
K380E |
probably benign |
Het |
| Usp17lb |
C |
T |
7: 104,490,889 (GRCm39) |
A13T |
probably benign |
Het |
| Usp4 |
G |
A |
9: 108,268,909 (GRCm39) |
R921H |
probably damaging |
Het |
| Xndc1 |
A |
G |
7: 101,722,518 (GRCm39) |
D61G |
probably damaging |
Het |
| Zfp1006 |
G |
A |
8: 129,946,016 (GRCm39) |
P270S |
possibly damaging |
Het |
|
| Other mutations in Stk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Stk3
|
APN |
15 |
35,114,768 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02133:Stk3
|
APN |
15 |
35,099,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03121:Stk3
|
APN |
15 |
35,099,572 (GRCm39) |
splice site |
probably benign |
|
|
IGL03309:Stk3
|
APN |
15 |
35,099,697 (GRCm39) |
splice site |
probably benign |
|
|
R0276:Stk3
|
UTSW |
15 |
35,099,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Stk3
|
UTSW |
15 |
35,114,778 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1352:Stk3
|
UTSW |
15 |
35,008,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Stk3
|
UTSW |
15 |
34,959,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Stk3
|
UTSW |
15 |
35,008,454 (GRCm39) |
splice site |
probably null |
|
|
R1917:Stk3
|
UTSW |
15 |
35,073,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Stk3
|
UTSW |
15 |
35,073,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Stk3
|
UTSW |
15 |
35,072,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Stk3
|
UTSW |
15 |
34,959,195 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2073:Stk3
|
UTSW |
15 |
34,959,195 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2075:Stk3
|
UTSW |
15 |
34,959,195 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3158:Stk3
|
UTSW |
15 |
35,008,387 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3402:Stk3
|
UTSW |
15 |
34,945,144 (GRCm39) |
splice site |
probably benign |
|
|
R4633:Stk3
|
UTSW |
15 |
34,959,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4672:Stk3
|
UTSW |
15 |
35,099,603 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4687:Stk3
|
UTSW |
15 |
35,114,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4825:Stk3
|
UTSW |
15 |
35,000,054 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4903:Stk3
|
UTSW |
15 |
34,959,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5390:Stk3
|
UTSW |
15 |
35,114,706 (GRCm39) |
nonsense |
probably null |
|
|
R5834:Stk3
|
UTSW |
15 |
34,959,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Stk3
|
UTSW |
15 |
35,073,262 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7266:Stk3
|
UTSW |
15 |
34,959,182 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7862:Stk3
|
UTSW |
15 |
35,115,732 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8354:Stk3
|
UTSW |
15 |
34,876,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Stk3
|
UTSW |
15 |
34,876,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9160:Stk3
|
UTSW |
15 |
35,099,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9366:Stk3
|
UTSW |
15 |
35,072,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Stk3
|
UTSW |
15 |
35,114,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Stk3
|
UTSW |
15 |
35,072,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Stk3
|
UTSW |
15 |
35,114,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACACATTAATACGCAGTCTG -3'
(R):5'- TGCTTTGGCCAGGATACATC -3'
Sequencing Primer
(F):5'- ACATTAATACGCAGTCTGTAGTTTAC -3'
(R):5'- GGCCAGGATACATCTACTATATGGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation