Incidental Mutation 'PIT4531001:Stk25'
| ID |
556434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk25
|
| Ensembl Gene |
ENSMUSG00000026277 |
| Gene Name |
serine/threonine kinase 25 (yeast) |
| Synonyms |
SOK-1, Ste20-like, 1500019J11Rik, Ysk1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4531001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93548473-93581937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93552346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 345
(P345S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027498]
[ENSMUST00000120301]
[ENSMUST00000133769]
[ENSMUST00000186287]
|
| AlphaFold |
Q9Z2W1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027498
AA Change: P345S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027498
Gene: ENSMUSG00000026277
AA Change: P345S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
270 |
2.92e-98 |
SMART |
|
low complexity region
|
292 |
314 |
N/A |
INTRINSIC |
|
PDB:3W8H|B
|
355 |
426 |
8e-43 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120301
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
40 |
234 |
1.48e-66 |
SMART |
|
FERM_C
|
238 |
328 |
3.29e-35 |
SMART |
|
FA
|
332 |
378 |
1.13e-15 |
SMART |
|
low complexity region
|
409 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
492 |
N/A |
INTRINSIC |
|
RhoGEF
|
542 |
728 |
1.57e-56 |
SMART |
|
PH
|
759 |
857 |
1.45e-19 |
SMART |
|
low complexity region
|
879 |
890 |
N/A |
INTRINSIC |
|
PH
|
931 |
1029 |
2.62e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133769
|
| SMART Domains |
Protein: ENSMUSP00000117765
Gene: ENSMUSG00000026277
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
233 |
1.7e-63 |
PFAM |
|
Pfam:Pkinase_Tyr
|
20 |
233 |
2.1e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186287
|
| SMART Domains |
Protein: ENSMUSP00000140396
Gene: ENSMUSG00000026277
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
20 |
107 |
1.9e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Germ line null mutants display normal cortical layers and neuronal migration. Acute loss of expression results in impaired neuronal migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
G |
9: 59,217,600 (GRCm39) |
D204E |
probably damaging |
Het |
| Aqr |
C |
A |
2: 113,961,215 (GRCm39) |
V682L |
possibly damaging |
Het |
| Bmper |
A |
T |
9: 23,136,113 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Calb1 |
T |
C |
4: 15,900,925 (GRCm39) |
L171P |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,892,415 (GRCm39) |
M217V |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,265,412 (GRCm39) |
|
probably null |
Het |
| Dpm1 |
T |
C |
2: 168,052,472 (GRCm39) |
T255A |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,752,803 (GRCm39) |
Y440H |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,737,170 (GRCm39) |
V40A |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,076,629 (GRCm39) |
N491Y |
possibly damaging |
Het |
| Frem1 |
T |
A |
4: 82,868,517 (GRCm39) |
H1488L |
probably benign |
Het |
| Frrs1l |
C |
A |
4: 56,990,144 (GRCm39) |
R43L |
unknown |
Het |
| Galnt3 |
G |
A |
2: 65,937,432 (GRCm39) |
R93C |
probably benign |
Het |
| Gm8225 |
A |
G |
17: 26,762,363 (GRCm39) |
T185A |
possibly damaging |
Het |
| H2-Q1 |
T |
C |
17: 35,539,892 (GRCm39) |
F54L |
probably benign |
Het |
| H2-Q1 |
A |
T |
17: 35,540,055 (GRCm39) |
Q108L |
probably damaging |
Het |
| Hoxc12 |
T |
G |
15: 102,846,855 (GRCm39) |
L249W |
probably damaging |
Het |
| Lrrc75b |
A |
T |
10: 75,393,099 (GRCm39) |
H83Q |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,576,391 (GRCm39) |
T1964S |
unknown |
Het |
| Nob1 |
T |
C |
8: 108,145,049 (GRCm39) |
D142G |
probably benign |
Het |
| Or2y1d |
T |
C |
11: 49,321,753 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,104 (GRCm39) |
H299Q |
probably benign |
Het |
| Or4p22 |
A |
T |
2: 88,317,601 (GRCm39) |
Y175F |
possibly damaging |
Het |
| Or5b24 |
G |
A |
19: 12,912,641 (GRCm39) |
D180N |
probably damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,571 (GRCm39) |
Y134H |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,329,327 (GRCm39) |
N527I |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,805,096 (GRCm39) |
I543V |
|
Het |
| Ppp1r2 |
A |
T |
16: 31,077,279 (GRCm39) |
N150K |
probably damaging |
Het |
| Prl7d1 |
A |
T |
13: 27,894,161 (GRCm39) |
L135Q |
probably damaging |
Het |
| Ralgds |
G |
T |
2: 28,435,226 (GRCm39) |
E461* |
probably null |
Het |
| Ramac |
C |
T |
7: 81,417,327 (GRCm39) |
P9L |
possibly damaging |
Het |
| Rasa3 |
T |
A |
8: 13,655,887 (GRCm39) |
H116L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,136,827 (GRCm39) |
P520L |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,518,283 (GRCm39) |
S376A |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,458,173 (GRCm39) |
T3290A |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,300,148 (GRCm39) |
E454G |
probably null |
Het |
| Tecpr1 |
T |
C |
5: 144,150,885 (GRCm39) |
K308E |
probably damaging |
Het |
| Thtpa |
C |
T |
14: 55,332,962 (GRCm39) |
P16S |
probably damaging |
Het |
| Trim65 |
T |
A |
11: 116,018,535 (GRCm39) |
I247F |
possibly damaging |
Het |
| Trpc6 |
T |
G |
9: 8,610,149 (GRCm39) |
Y206D |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,703,307 (GRCm39) |
T9357I |
unknown |
Het |
| Ugt2b1 |
C |
A |
5: 87,074,342 (GRCm39) |
A6S |
probably benign |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,603 (GRCm39) |
V8A |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,878,971 (GRCm39) |
I2990N |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,345,826 (GRCm39) |
R2689Q |
possibly damaging |
Het |
| Zfp831 |
T |
A |
2: 174,488,516 (GRCm39) |
Y1064N |
possibly damaging |
Het |
|
| Other mutations in Stk25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01291:Stk25
|
APN |
1 |
93,551,145 (GRCm39) |
splice site |
probably null |
|
|
IGL02952:Stk25
|
APN |
1 |
93,553,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03144:Stk25
|
APN |
1 |
93,556,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:Stk25
|
UTSW |
1 |
93,551,145 (GRCm39) |
splice site |
probably null |
|
|
IGL02980:Stk25
|
UTSW |
1 |
93,555,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Stk25
|
UTSW |
1 |
93,554,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Stk25
|
UTSW |
1 |
93,554,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Stk25
|
UTSW |
1 |
93,552,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1178:Stk25
|
UTSW |
1 |
93,551,111 (GRCm39) |
unclassified |
probably benign |
|
|
R1406:Stk25
|
UTSW |
1 |
93,552,875 (GRCm39) |
unclassified |
probably benign |
|
|
R1493:Stk25
|
UTSW |
1 |
93,553,322 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2875:Stk25
|
UTSW |
1 |
93,556,973 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4657:Stk25
|
UTSW |
1 |
93,553,378 (GRCm39) |
unclassified |
probably benign |
|
|
R4668:Stk25
|
UTSW |
1 |
93,553,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Stk25
|
UTSW |
1 |
93,551,142 (GRCm39) |
splice site |
probably null |
|
|
R5089:Stk25
|
UTSW |
1 |
93,552,330 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5493:Stk25
|
UTSW |
1 |
93,563,031 (GRCm39) |
missense |
probably benign |
|
|
R6013:Stk25
|
UTSW |
1 |
93,553,181 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8723:Stk25
|
UTSW |
1 |
93,553,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Stk25
|
UTSW |
1 |
93,556,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Stk25
|
UTSW |
1 |
93,552,806 (GRCm39) |
missense |
probably benign |
|
|
R9274:Stk25
|
UTSW |
1 |
93,552,806 (GRCm39) |
missense |
probably benign |
|
|
X0063:Stk25
|
UTSW |
1 |
93,553,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGTGCATAACTAGCTGC -3'
(R):5'- GGTGCTTAGGTACAGACAGG -3'
Sequencing Primer
(F):5'- TAGATAACGTCCAGGCTCACGG -3'
(R):5'- GCCTGATAAGAACTGATGGCTTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation