Incidental Mutation 'R2188:Srpk1'
| ID |
237949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srpk1
|
| Ensembl Gene |
ENSMUSG00000004865 |
| Gene Name |
serine/arginine-rich protein specific kinase 1 |
| Synonyms |
SR protein-specific kinase 1 |
| MMRRC Submission |
040190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.780)
|
| Stock # |
R2188 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28806622-28841683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28813163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 527
(I527N)
|
| 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 |
probably damaging
Transcript: ENSMUST00000130643
AA Change: I527N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: I527N
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,838,367 (GRCm39) |
L547P |
probably damaging |
Het |
| Arhgap29 |
A |
C |
3: 121,784,658 (GRCm39) |
D195A |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,976 (GRCm39) |
I274N |
probably damaging |
Het |
| Ccdc12 |
G |
T |
9: 110,485,699 (GRCm39) |
K23N |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,920,388 (GRCm39) |
T668A |
probably benign |
Het |
| Cdc34b |
T |
C |
11: 94,632,998 (GRCm39) |
I66T |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,001,121 (GRCm39) |
I2408T |
probably damaging |
Het |
| Fam91a1 |
A |
C |
15: 58,302,512 (GRCm39) |
N284T |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,314,040 (GRCm39) |
E440V |
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,309,947 (GRCm39) |
A3238T |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,384,584 (GRCm39) |
E118G |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,475,267 (GRCm39) |
S409P |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,383,601 (GRCm39) |
F781I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,181 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,298,971 (GRCm39) |
T857A |
probably benign |
Het |
| Mucl2 |
T |
A |
15: 103,927,840 (GRCm39) |
N39I |
probably damaging |
Het |
| Myl6 |
A |
G |
10: 128,328,566 (GRCm39) |
I27T |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,141,765 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,264,354 (GRCm39) |
E758G |
probably damaging |
Het |
| Or52h7 |
G |
A |
7: 104,213,883 (GRCm39) |
A152T |
probably benign |
Het |
| Or8u8 |
A |
T |
2: 86,011,780 (GRCm39) |
I225N |
probably damaging |
Het |
| Parp3 |
G |
A |
9: 106,353,051 (GRCm39) |
R42W |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,600 (GRCm39) |
I495V |
probably damaging |
Het |
| Qrfprl |
C |
A |
6: 65,418,260 (GRCm39) |
H143N |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,596,485 (GRCm39) |
G310S |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,614,411 (GRCm39) |
L531P |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,540,736 (GRCm39) |
S197F |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,017,001 (GRCm39) |
I213N |
probably damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,643 (GRCm39) |
Y412* |
probably null |
Het |
| Tbk1 |
A |
C |
10: 121,399,836 (GRCm39) |
Y329* |
probably null |
Het |
| Tekt5 |
T |
C |
16: 10,176,189 (GRCm39) |
E452G |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,254,178 (GRCm39) |
C672F |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,367,987 (GRCm39) |
L201S |
probably damaging |
Het |
| Vil1 |
A |
C |
1: 74,466,724 (GRCm39) |
D638A |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
C |
T |
7: 6,320,610 (GRCm39) |
R134H |
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 |
|
|
IGL03153:Srpk1
|
APN |
17 |
28,811,240 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAAGGCTATAAGCTCAAGG -3'
(R):5'- GCAGACAGCTTGCTTTAGTTTC -3'
Sequencing Primer
(F):5'- CCAATACAGGAAAAAGAATGCCTTTG -3'
(R):5'- AGACAGCTTGCTTTAGTTTCCATCG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation