Incidental Mutation 'R5440:Prpf4b'
ID |
428601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf4b
|
Ensembl Gene |
ENSMUSG00000021413 |
Gene Name |
pre-mRNA processing factor 4B |
Synonyms |
Prpk, Prp4k, Prp4 |
MMRRC Submission |
043005-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5440 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
35059285-35090047 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 35068076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077853]
[ENSMUST00000222509]
|
AlphaFold |
Q61136 |
Predicted Effect |
unknown
Transcript: ENSMUST00000077853
AA Change: S302P
|
SMART Domains |
Protein: ENSMUSP00000077019 Gene: ENSMUSG00000021413 AA Change: S302P
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
62 |
N/A |
INTRINSIC |
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
coiled coil region
|
102 |
123 |
N/A |
INTRINSIC |
low complexity region
|
142 |
150 |
N/A |
INTRINSIC |
low complexity region
|
156 |
170 |
N/A |
INTRINSIC |
low complexity region
|
178 |
197 |
N/A |
INTRINSIC |
low complexity region
|
210 |
233 |
N/A |
INTRINSIC |
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
low complexity region
|
284 |
294 |
N/A |
INTRINSIC |
low complexity region
|
299 |
324 |
N/A |
INTRINSIC |
low complexity region
|
340 |
360 |
N/A |
INTRINSIC |
low complexity region
|
390 |
417 |
N/A |
INTRINSIC |
low complexity region
|
435 |
497 |
N/A |
INTRINSIC |
low complexity region
|
521 |
535 |
N/A |
INTRINSIC |
low complexity region
|
562 |
581 |
N/A |
INTRINSIC |
S_TKc
|
687 |
1003 |
4.99e-74 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220965
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221639
|
Predicted Effect |
unknown
Transcript: ENSMUST00000222509
AA Change: S302P
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc |
G |
T |
18: 34,354,213 (GRCm39) |
|
probably benign |
Het |
Apol11b |
T |
A |
15: 77,519,793 (GRCm39) |
K96* |
probably null |
Het |
Arhgap35 |
C |
T |
7: 16,296,849 (GRCm39) |
G739S |
probably damaging |
Het |
Atp6v0a4 |
A |
C |
6: 38,069,752 (GRCm39) |
F47V |
probably damaging |
Het |
Bcl9 |
G |
A |
3: 97,117,881 (GRCm39) |
P271L |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,587,446 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
A |
9: 79,521,645 (GRCm39) |
I2771F |
probably benign |
Het |
Col6a1 |
A |
G |
10: 76,559,288 (GRCm39) |
V116A |
probably damaging |
Het |
Cpsf2 |
C |
G |
12: 101,963,138 (GRCm39) |
L401V |
probably benign |
Het |
Cwf19l2 |
G |
A |
9: 3,475,549 (GRCm39) |
E829K |
probably damaging |
Het |
D7Ertd443e |
G |
A |
7: 133,951,004 (GRCm39) |
T223I |
probably damaging |
Het |
Dtx4 |
G |
A |
19: 12,469,681 (GRCm39) |
R149C |
probably damaging |
Het |
Fam186b |
C |
T |
15: 99,171,734 (GRCm39) |
A838T |
possibly damaging |
Het |
Fzd4 |
G |
T |
7: 89,057,326 (GRCm39) |
E458* |
probably null |
Het |
Gm17669 |
C |
T |
18: 67,695,526 (GRCm39) |
P24S |
possibly damaging |
Het |
Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
Gucy2e |
T |
C |
11: 69,114,472 (GRCm39) |
Y1019C |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,355,910 (GRCm39) |
N134I |
possibly damaging |
Het |
Havcr1 |
A |
T |
11: 46,643,197 (GRCm39) |
Y39F |
probably damaging |
Het |
Hint3 |
A |
T |
10: 30,494,347 (GRCm39) |
M1K |
probably null |
Het |
Hspa4l |
A |
G |
3: 40,736,008 (GRCm39) |
K543R |
probably damaging |
Het |
Ifna9 |
A |
G |
4: 88,510,048 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,698,258 (GRCm39) |
I373T |
probably benign |
Het |
Myo5c |
T |
A |
9: 75,165,407 (GRCm39) |
I405N |
possibly damaging |
Het |
Or10a49 |
T |
C |
7: 108,467,833 (GRCm39) |
H176R |
probably damaging |
Het |
P2rx1 |
A |
G |
11: 72,899,329 (GRCm39) |
M108V |
probably benign |
Het |
Pcsk2 |
T |
A |
2: 143,388,463 (GRCm39) |
V18E |
probably benign |
Het |
Pigr |
A |
T |
1: 130,777,359 (GRCm39) |
|
probably null |
Het |
Pkp1 |
A |
T |
1: 135,810,230 (GRCm39) |
C447S |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,215,988 (GRCm39) |
I96F |
probably benign |
Het |
Ropn1 |
C |
A |
16: 34,491,542 (GRCm39) |
D102E |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Sphk1 |
T |
G |
11: 116,425,714 (GRCm39) |
V17G |
possibly damaging |
Het |
Syngr1 |
A |
G |
15: 79,982,219 (GRCm39) |
N2S |
probably benign |
Het |
Syt9 |
T |
G |
7: 107,101,330 (GRCm39) |
S359A |
possibly damaging |
Het |
Terb1 |
T |
C |
8: 105,215,131 (GRCm39) |
I282V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,739,600 (GRCm39) |
D3646E |
probably benign |
Het |
Ube2d1 |
A |
G |
10: 71,091,682 (GRCm39) |
W141R |
probably damaging |
Het |
Vmn2r41 |
T |
A |
7: 8,141,362 (GRCm39) |
I701F |
probably damaging |
Het |
Zfp770 |
T |
C |
2: 114,026,596 (GRCm39) |
D491G |
probably benign |
Het |
|
Other mutations in Prpf4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Prpf4b
|
APN |
13 |
35,067,890 (GRCm39) |
missense |
probably benign |
0.23 |
IGL00639:Prpf4b
|
APN |
13 |
35,083,156 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL00901:Prpf4b
|
APN |
13 |
35,078,465 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01301:Prpf4b
|
APN |
13 |
35,068,274 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02027:Prpf4b
|
APN |
13 |
35,073,554 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02111:Prpf4b
|
APN |
13 |
35,067,944 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02256:Prpf4b
|
APN |
13 |
35,083,861 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02590:Prpf4b
|
APN |
13 |
35,072,129 (GRCm39) |
unclassified |
probably benign |
|
IGL03389:Prpf4b
|
APN |
13 |
35,084,439 (GRCm39) |
splice site |
probably benign |
|
IGL03411:Prpf4b
|
APN |
13 |
35,079,342 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU18:Prpf4b
|
UTSW |
13 |
35,068,274 (GRCm39) |
missense |
probably benign |
0.23 |
PIT4260001:Prpf4b
|
UTSW |
13 |
35,068,274 (GRCm39) |
missense |
probably benign |
0.23 |
PIT4696001:Prpf4b
|
UTSW |
13 |
35,083,825 (GRCm39) |
missense |
probably benign |
0.01 |
R0114:Prpf4b
|
UTSW |
13 |
35,074,471 (GRCm39) |
splice site |
probably benign |
|
R0157:Prpf4b
|
UTSW |
13 |
35,068,014 (GRCm39) |
unclassified |
probably benign |
|
R1551:Prpf4b
|
UTSW |
13 |
35,078,426 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1587:Prpf4b
|
UTSW |
13 |
35,076,133 (GRCm39) |
missense |
probably benign |
0.09 |
R2105:Prpf4b
|
UTSW |
13 |
35,068,214 (GRCm39) |
unclassified |
probably benign |
|
R2152:Prpf4b
|
UTSW |
13 |
35,084,402 (GRCm39) |
missense |
probably benign |
0.04 |
R2432:Prpf4b
|
UTSW |
13 |
35,067,324 (GRCm39) |
unclassified |
probably benign |
|
R3802:Prpf4b
|
UTSW |
13 |
35,067,665 (GRCm39) |
unclassified |
probably benign |
|
R3803:Prpf4b
|
UTSW |
13 |
35,067,665 (GRCm39) |
unclassified |
probably benign |
|
R3804:Prpf4b
|
UTSW |
13 |
35,067,665 (GRCm39) |
unclassified |
probably benign |
|
R3982:Prpf4b
|
UTSW |
13 |
35,068,196 (GRCm39) |
unclassified |
probably benign |
|
R4603:Prpf4b
|
UTSW |
13 |
35,072,147 (GRCm39) |
unclassified |
probably benign |
|
R4633:Prpf4b
|
UTSW |
13 |
35,084,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R4649:Prpf4b
|
UTSW |
13 |
35,083,954 (GRCm39) |
missense |
probably benign |
0.06 |
R4651:Prpf4b
|
UTSW |
13 |
35,083,954 (GRCm39) |
missense |
probably benign |
0.06 |
R4653:Prpf4b
|
UTSW |
13 |
35,083,954 (GRCm39) |
missense |
probably benign |
0.06 |
R5022:Prpf4b
|
UTSW |
13 |
35,067,582 (GRCm39) |
unclassified |
probably benign |
|
R5028:Prpf4b
|
UTSW |
13 |
35,083,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R5232:Prpf4b
|
UTSW |
13 |
35,067,573 (GRCm39) |
unclassified |
probably benign |
|
R5313:Prpf4b
|
UTSW |
13 |
35,078,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R5511:Prpf4b
|
UTSW |
13 |
35,068,037 (GRCm39) |
unclassified |
probably benign |
|
R5863:Prpf4b
|
UTSW |
13 |
35,083,111 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5981:Prpf4b
|
UTSW |
13 |
35,070,693 (GRCm39) |
missense |
probably benign |
0.23 |
R6360:Prpf4b
|
UTSW |
13 |
35,085,416 (GRCm39) |
missense |
probably damaging |
0.99 |
R6398:Prpf4b
|
UTSW |
13 |
35,084,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R6556:Prpf4b
|
UTSW |
13 |
35,080,015 (GRCm39) |
missense |
probably damaging |
0.98 |
R6880:Prpf4b
|
UTSW |
13 |
35,078,436 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7133:Prpf4b
|
UTSW |
13 |
35,085,477 (GRCm39) |
missense |
probably benign |
0.02 |
R7148:Prpf4b
|
UTSW |
13 |
35,078,455 (GRCm39) |
missense |
probably benign |
0.04 |
R7208:Prpf4b
|
UTSW |
13 |
35,067,994 (GRCm39) |
missense |
unknown |
|
R7966:Prpf4b
|
UTSW |
13 |
35,085,428 (GRCm39) |
missense |
probably damaging |
0.96 |
R8241:Prpf4b
|
UTSW |
13 |
35,079,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R8298:Prpf4b
|
UTSW |
13 |
35,072,166 (GRCm39) |
missense |
unknown |
|
R9609:Prpf4b
|
UTSW |
13 |
35,068,032 (GRCm39) |
missense |
unknown |
|
R9710:Prpf4b
|
UTSW |
13 |
35,083,870 (GRCm39) |
missense |
probably damaging |
1.00 |
RF002:Prpf4b
|
UTSW |
13 |
35,068,219 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTAGAAAGTCAAAGTCCCCTC -3'
(R):5'- TGTCATTGAGAAGCGGAGACC -3'
Sequencing Primer
(F):5'- AGTCCCCTCCACTCAGACGG -3'
(R):5'- TGAGAAGCGGAGACCTACTTCTTC -3'
|
Posted On |
2016-09-01 |