Incidental Mutation 'IGL03153:Srpk1'
ID |
411167 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Srpk1
|
Ensembl Gene |
ENSMUSG00000004865 |
Gene Name |
serine/arginine-rich protein specific kinase 1 |
Synonyms |
SR protein-specific kinase 1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.780)
|
Stock # |
IGL03153
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
28806622-28841683 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 28811240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 541
(D541Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004987]
[ENSMUST00000130643]
|
AlphaFold |
O70551 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004987
|
SMART Domains |
Protein: ENSMUSP00000004987 Gene: ENSMUSG00000004865
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
8 |
158 |
1.8e-12 |
PFAM |
Pfam:Pkinase
|
8 |
160 |
1.5e-25 |
PFAM |
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126683
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130643
AA Change: D541Y
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116259 Gene: ENSMUSG00000004865 AA Change: D541Y
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
80 |
229 |
6.8e-11 |
PFAM |
Pfam:Pkinase
|
80 |
231 |
5.6e-23 |
PFAM |
low complexity region
|
241 |
255 |
N/A |
INTRINSIC |
coiled coil region
|
264 |
297 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
468 |
646 |
3e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136504
|
Coding Region Coverage |
|
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/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
A |
G |
4: 62,465,563 (GRCm39) |
E419G |
possibly damaging |
Het |
Abcg3 |
A |
G |
5: 105,122,631 (GRCm39) |
|
probably benign |
Het |
Adam17 |
T |
C |
12: 21,395,698 (GRCm39) |
D256G |
probably damaging |
Het |
Adgrb3 |
G |
A |
1: 25,570,978 (GRCm39) |
R500* |
probably null |
Het |
Aldh3a2 |
A |
G |
11: 61,149,665 (GRCm39) |
Y234H |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,143 (GRCm39) |
T987A |
probably benign |
Het |
Amtn |
A |
G |
5: 88,532,828 (GRCm39) |
K148E |
possibly damaging |
Het |
Asap1 |
G |
A |
15: 64,032,123 (GRCm39) |
T237M |
probably damaging |
Het |
Ccdc124 |
A |
T |
8: 71,321,573 (GRCm39) |
|
probably null |
Het |
Cdon |
T |
C |
9: 35,389,255 (GRCm39) |
Y787H |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,269,516 (GRCm39) |
D188G |
probably damaging |
Het |
Coro7 |
A |
G |
16: 4,453,246 (GRCm39) |
|
probably null |
Het |
Dram2 |
T |
A |
3: 106,462,490 (GRCm39) |
|
probably benign |
Het |
Drd5 |
T |
C |
5: 38,477,124 (GRCm39) |
V39A |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,300,924 (GRCm39) |
L490P |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,483,160 (GRCm39) |
T3083A |
possibly damaging |
Het |
Irgm1 |
A |
G |
11: 48,757,094 (GRCm39) |
I239T |
probably damaging |
Het |
Klhl10 |
A |
T |
11: 100,347,758 (GRCm39) |
T605S |
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lgi4 |
G |
T |
7: 30,759,983 (GRCm39) |
V60F |
probably damaging |
Het |
Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
Lmf1 |
A |
G |
17: 25,804,624 (GRCm39) |
S97G |
possibly damaging |
Het |
Oasl2 |
A |
G |
5: 115,039,393 (GRCm39) |
T194A |
probably benign |
Het |
Or5ac17 |
A |
G |
16: 59,036,566 (GRCm39) |
S137P |
probably benign |
Het |
Pnpo |
A |
T |
11: 96,834,661 (GRCm39) |
F12I |
probably damaging |
Het |
Prdm4 |
T |
C |
10: 85,743,860 (GRCm39) |
T132A |
probably benign |
Het |
Ptbp2 |
T |
C |
3: 119,545,593 (GRCm39) |
T118A |
probably benign |
Het |
Ptf1a |
T |
A |
2: 19,451,456 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,682,874 (GRCm39) |
F331I |
probably damaging |
Het |
Rfx6 |
C |
A |
10: 51,599,217 (GRCm39) |
S524* |
probably null |
Het |
Scube3 |
A |
G |
17: 28,386,032 (GRCm39) |
S758G |
possibly damaging |
Het |
Slc44a2 |
T |
C |
9: 21,254,496 (GRCm39) |
I257T |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,629,579 (GRCm39) |
I408F |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,522,969 (GRCm39) |
I1467F |
probably damaging |
Het |
Uggt1 |
A |
C |
1: 36,241,899 (GRCm39) |
V345G |
possibly damaging |
Het |
Vmn1r23 |
A |
T |
6: 57,902,917 (GRCm39) |
I287K |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,239,280 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
A |
G |
18: 5,770,511 (GRCm39) |
D888G |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,564,744 (GRCm39) |
N253S |
possibly damaging |
Het |
Zfp446 |
C |
A |
7: 12,711,834 (GRCm39) |
A19E |
probably benign |
Het |
|
Other mutations in Srpk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01583:Srpk1
|
APN |
17 |
28,825,291 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01792:Srpk1
|
APN |
17 |
28,818,441 (GRCm39) |
splice site |
probably benign |
|
H8562:Srpk1
|
UTSW |
17 |
28,821,707 (GRCm39) |
missense |
probably benign |
0.32 |
R0481:Srpk1
|
UTSW |
17 |
28,809,218 (GRCm39) |
splice site |
probably benign |
|
R1160:Srpk1
|
UTSW |
17 |
28,818,748 (GRCm39) |
missense |
probably benign |
0.05 |
R2188:Srpk1
|
UTSW |
17 |
28,813,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R4640:Srpk1
|
UTSW |
17 |
28,827,698 (GRCm39) |
missense |
probably benign |
|
R4716:Srpk1
|
UTSW |
17 |
28,840,982 (GRCm39) |
missense |
probably benign |
0.16 |
R4880:Srpk1
|
UTSW |
17 |
28,810,199 (GRCm39) |
missense |
probably damaging |
0.98 |
R5458:Srpk1
|
UTSW |
17 |
28,818,446 (GRCm39) |
splice site |
probably null |
|
R5533:Srpk1
|
UTSW |
17 |
28,821,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:Srpk1
|
UTSW |
17 |
28,809,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R6766:Srpk1
|
UTSW |
17 |
28,821,727 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7483:Srpk1
|
UTSW |
17 |
28,813,192 (GRCm39) |
missense |
probably benign |
0.11 |
R8074:Srpk1
|
UTSW |
17 |
28,840,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R8344:Srpk1
|
UTSW |
17 |
28,839,398 (GRCm39) |
missense |
unknown |
|
R8416:Srpk1
|
UTSW |
17 |
28,813,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R8970:Srpk1
|
UTSW |
17 |
28,818,493 (GRCm39) |
missense |
probably benign |
|
R9630:Srpk1
|
UTSW |
17 |
28,819,404 (GRCm39) |
missense |
probably benign |
0.00 |
R9731:Srpk1
|
UTSW |
17 |
28,825,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9741:Srpk1
|
UTSW |
17 |
28,818,652 (GRCm39) |
missense |
probably benign |
|
X0058:Srpk1
|
UTSW |
17 |
28,821,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |