Incidental Mutation 'R0587:Strada'
| ID |
55816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strada
|
| Ensembl Gene |
ENSMUSG00000069631 |
| Gene Name |
STE20-related kinase adaptor alpha |
| Synonyms |
6030402H20Rik, 2610019A05Rik |
| MMRRC Submission |
038777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.521)
|
| Stock # |
R0587 (G1)
|
| Quality Score |
165 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106053739-106084460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 106061790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 154
(Y154D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007444]
[ENSMUST00000103072]
[ENSMUST00000152008]
|
| AlphaFold |
Q3UUJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007444
AA Change: Y191D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007444
Gene: ENSMUSG00000069631
AA Change: Y191D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
69 |
379 |
2.4e-37 |
PFAM |
|
Pfam:Pkinase_Tyr
|
70 |
302 |
2.1e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103072
AA Change: Y154D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099361
Gene: ENSMUSG00000069631
AA Change: Y154D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
32 |
342 |
2.2e-35 |
PFAM |
|
Pfam:Pkinase_Tyr
|
33 |
266 |
2.5e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122989
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152008
AA Change: Y154D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115555
Gene: ENSMUSG00000069631
AA Change: Y154D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
32 |
159 |
7.4e-16 |
PFAM |
|
Pfam:Pkinase_Tyr
|
33 |
159 |
1.5e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.6831 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
94% (34/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
T |
C |
17: 36,203,855 (GRCm39) |
*212W |
probably null |
Het |
| Abca1 |
A |
G |
4: 53,107,035 (GRCm39) |
Y231H |
probably benign |
Het |
| Abca5 |
T |
G |
11: 110,202,203 (GRCm39) |
I401L |
probably benign |
Het |
| Ak2 |
A |
G |
4: 128,896,171 (GRCm39) |
D112G |
probably damaging |
Het |
| Ankrd60 |
T |
A |
2: 173,410,644 (GRCm39) |
D292V |
possibly damaging |
Het |
| Bank1 |
A |
G |
3: 135,919,798 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,978,980 (GRCm39) |
S778L |
probably benign |
Het |
| Cep76 |
C |
A |
18: 67,756,245 (GRCm39) |
E529* |
probably null |
Het |
| Col24a1 |
T |
C |
3: 144,998,906 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ctsc |
T |
A |
7: 87,946,437 (GRCm39) |
H154Q |
probably benign |
Het |
| Ctsf |
A |
G |
19: 4,905,766 (GRCm39) |
E87G |
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,068,374 (GRCm39) |
T2716S |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,212,382 (GRCm39) |
|
probably benign |
Het |
| Fcsk |
T |
A |
8: 111,609,957 (GRCm39) |
Q1019L |
probably damaging |
Het |
| Hnrnpul1 |
T |
A |
7: 25,444,657 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,758,831 (GRCm39) |
M1039K |
probably damaging |
Het |
| Large1 |
T |
C |
8: 73,585,961 (GRCm39) |
N382D |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,977,230 (GRCm39) |
V1402A |
probably damaging |
Het |
| Mlh3 |
C |
T |
12: 85,313,193 (GRCm39) |
V998M |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,548,616 (GRCm39) |
Y71C |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,861,634 (GRCm39) |
D139N |
unknown |
Het |
| Nes |
C |
A |
3: 87,885,876 (GRCm39) |
H1378Q |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,736 (GRCm39) |
H241R |
probably damaging |
Het |
| Otud6b |
T |
C |
4: 14,815,661 (GRCm39) |
E243G |
probably benign |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,739,088 (GRCm39) |
R912L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,155,497 (GRCm39) |
I2449T |
possibly damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,818,453 (GRCm39) |
M217I |
probably damaging |
Het |
| Sorl1 |
C |
A |
9: 41,895,802 (GRCm39) |
W1784C |
probably damaging |
Het |
| Spatc1l |
A |
G |
10: 76,400,011 (GRCm39) |
R178G |
possibly damaging |
Het |
| Syt6 |
A |
G |
3: 103,532,887 (GRCm39) |
T424A |
probably damaging |
Het |
| Tbx1 |
C |
T |
16: 18,402,243 (GRCm39) |
A245T |
possibly damaging |
Het |
| Tmem143 |
T |
C |
7: 45,556,478 (GRCm39) |
L161P |
probably damaging |
Het |
|
| Other mutations in Strada |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Strada
|
APN |
11 |
106,061,976 (GRCm39) |
splice site |
probably benign |
|
|
IGL00870:Strada
|
APN |
11 |
106,062,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01564:Strada
|
APN |
11 |
106,064,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Strada
|
APN |
11 |
106,059,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02816:Strada
|
APN |
11 |
106,055,251 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03008:Strada
|
APN |
11 |
106,061,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Strada
|
APN |
11 |
106,054,863 (GRCm39) |
unclassified |
probably benign |
|
|
R1614:Strada
|
UTSW |
11 |
106,059,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Strada
|
UTSW |
11 |
106,055,010 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1852:Strada
|
UTSW |
11 |
106,062,047 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3772:Strada
|
UTSW |
11 |
106,055,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4329:Strada
|
UTSW |
11 |
106,077,999 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4538:Strada
|
UTSW |
11 |
106,058,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5532:Strada
|
UTSW |
11 |
106,061,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Strada
|
UTSW |
11 |
106,059,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6135:Strada
|
UTSW |
11 |
106,064,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6337:Strada
|
UTSW |
11 |
106,064,143 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6773:Strada
|
UTSW |
11 |
106,055,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7155:Strada
|
UTSW |
11 |
106,061,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Strada
|
UTSW |
11 |
106,077,920 (GRCm39) |
missense |
unknown |
|
|
R7552:Strada
|
UTSW |
11 |
106,077,830 (GRCm39) |
missense |
unknown |
|
|
R8510:Strada
|
UTSW |
11 |
106,061,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Strada
|
UTSW |
11 |
106,075,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Strada
|
UTSW |
11 |
106,077,781 (GRCm39) |
missense |
unknown |
|
|
RF015:Strada
|
UTSW |
11 |
106,061,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGAAGCACACAGGAGTAAGGC -3'
(R):5'- GCTGGACACTTTCTTGACTGCGAC -3'
Sequencing Primer
(F):5'- CACAGGAGTAAGGCAGGGTC -3'
(R):5'- CCTTCATCGCAGATAATGAGCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation