Incidental Mutation 'R5440:Prpf4b'
| ID |
428601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf4b
|
| Ensembl Gene |
ENSMUSG00000021413 |
| Gene Name |
pre-mRNA processing factor 4B |
| Synonyms |
Prp4, Prp4k, Prpk |
| 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 |
34875302-34906064 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 34884093 bp (GRCm38)
|
| 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: 34,221,160 (GRCm38) |
|
probably benign |
Het |
| Apol11b |
T |
A |
15: 77,635,593 (GRCm38) |
K96* |
probably null |
Het |
| Arhgap35 |
C |
T |
7: 16,562,924 (GRCm38) |
G739S |
probably damaging |
Het |
| Atp6v0a4 |
A |
C |
6: 38,092,817 (GRCm38) |
F47V |
probably damaging |
Het |
| Bcl9 |
G |
A |
3: 97,210,565 (GRCm38) |
P271L |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,680,164 (GRCm38) |
|
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,614,363 (GRCm38) |
I2771F |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,723,454 (GRCm38) |
V116A |
probably damaging |
Het |
| Cpsf2 |
C |
G |
12: 101,996,879 (GRCm38) |
L401V |
probably benign |
Het |
| Cwf19l2 |
G |
A |
9: 3,475,549 (GRCm38) |
E829K |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 134,349,275 (GRCm38) |
T223I |
probably damaging |
Het |
| Dtx4 |
G |
A |
19: 12,492,317 (GRCm38) |
R149C |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,273,853 (GRCm38) |
A838T |
possibly damaging |
Het |
| Fzd4 |
G |
T |
7: 89,408,118 (GRCm38) |
E458* |
probably null |
Het |
| Gm17669 |
C |
T |
18: 67,562,456 (GRCm38) |
P24S |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,736,306 (GRCm38) |
G859D |
probably damaging |
Het |
| Gucy2e |
T |
C |
11: 69,223,646 (GRCm38) |
Y1019C |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,118,453 (GRCm38) |
N134I |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,752,370 (GRCm38) |
Y39F |
probably damaging |
Het |
| Hint3 |
A |
T |
10: 30,618,351 (GRCm38) |
M1K |
probably null |
Het |
| Hspa4l |
A |
G |
3: 40,781,576 (GRCm38) |
K543R |
probably damaging |
Het |
| Ifna9 |
A |
G |
4: 88,591,811 (GRCm38) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,984,157 (GRCm38) |
R447W |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,720,858 (GRCm38) |
I373T |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,258,125 (GRCm38) |
I405N |
possibly damaging |
Het |
| Olfr517 |
T |
C |
7: 108,868,626 (GRCm38) |
H176R |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 73,008,503 (GRCm38) |
M108V |
probably benign |
Het |
| Pcsk2 |
T |
A |
2: 143,546,543 (GRCm38) |
V18E |
probably benign |
Het |
| Pigr |
A |
T |
1: 130,849,622 (GRCm38) |
|
probably null |
Het |
| Pkp1 |
A |
T |
1: 135,882,492 (GRCm38) |
C447S |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,058,646 (GRCm38) |
I96F |
probably benign |
Het |
| Ropn1 |
C |
A |
16: 34,671,172 (GRCm38) |
D102E |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,610,026 (GRCm38) |
P10L |
probably benign |
Het |
| Sphk1 |
T |
G |
11: 116,534,888 (GRCm38) |
V17G |
possibly damaging |
Het |
| Syngr1 |
A |
G |
15: 80,098,018 (GRCm38) |
N2S |
probably benign |
Het |
| Syt9 |
T |
G |
7: 107,502,123 (GRCm38) |
S359A |
possibly damaging |
Het |
| Terb1 |
T |
C |
8: 104,488,499 (GRCm38) |
I282V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,909,256 (GRCm38) |
D3646E |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,754,824 (GRCm38) |
I22042F |
probably damaging |
Het |
| Ube2d1 |
A |
G |
10: 71,255,852 (GRCm38) |
W141R |
probably damaging |
Het |
| Vmn2r41 |
T |
A |
7: 8,138,363 (GRCm38) |
I701F |
probably damaging |
Het |
| Zfp770 |
T |
C |
2: 114,196,115 (GRCm38) |
D491G |
probably benign |
Het |
|
| Other mutations in Prpf4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Prpf4b
|
APN |
13 |
34,883,907 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL00639:Prpf4b
|
APN |
13 |
34,899,173 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL00901:Prpf4b
|
APN |
13 |
34,894,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01301:Prpf4b
|
APN |
13 |
34,884,291 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02027:Prpf4b
|
APN |
13 |
34,889,571 (GRCm38) |
missense |
probably benign |
0.35 |
|
IGL02111:Prpf4b
|
APN |
13 |
34,883,961 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02256:Prpf4b
|
APN |
13 |
34,899,878 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02590:Prpf4b
|
APN |
13 |
34,888,146 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03389:Prpf4b
|
APN |
13 |
34,900,456 (GRCm38) |
splice site |
probably benign |
|
|
IGL03411:Prpf4b
|
APN |
13 |
34,895,359 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU18:Prpf4b
|
UTSW |
13 |
34,884,291 (GRCm38) |
missense |
probably benign |
0.23 |
|
PIT4260001:Prpf4b
|
UTSW |
13 |
34,884,291 (GRCm38) |
missense |
probably benign |
0.23 |
|
PIT4696001:Prpf4b
|
UTSW |
13 |
34,899,842 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0114:Prpf4b
|
UTSW |
13 |
34,890,488 (GRCm38) |
splice site |
probably benign |
|
|
R0157:Prpf4b
|
UTSW |
13 |
34,884,031 (GRCm38) |
unclassified |
probably benign |
|
|
R1551:Prpf4b
|
UTSW |
13 |
34,894,443 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1587:Prpf4b
|
UTSW |
13 |
34,892,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2105:Prpf4b
|
UTSW |
13 |
34,884,231 (GRCm38) |
unclassified |
probably benign |
|
|
R2152:Prpf4b
|
UTSW |
13 |
34,900,419 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2432:Prpf4b
|
UTSW |
13 |
34,883,341 (GRCm38) |
unclassified |
probably benign |
|
|
R3802:Prpf4b
|
UTSW |
13 |
34,883,682 (GRCm38) |
unclassified |
probably benign |
|
|
R3803:Prpf4b
|
UTSW |
13 |
34,883,682 (GRCm38) |
unclassified |
probably benign |
|
|
R3804:Prpf4b
|
UTSW |
13 |
34,883,682 (GRCm38) |
unclassified |
probably benign |
|
|
R3982:Prpf4b
|
UTSW |
13 |
34,884,213 (GRCm38) |
unclassified |
probably benign |
|
|
R4603:Prpf4b
|
UTSW |
13 |
34,888,164 (GRCm38) |
unclassified |
probably benign |
|
|
R4633:Prpf4b
|
UTSW |
13 |
34,900,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4649:Prpf4b
|
UTSW |
13 |
34,899,971 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4651:Prpf4b
|
UTSW |
13 |
34,899,971 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4653:Prpf4b
|
UTSW |
13 |
34,899,971 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5022:Prpf4b
|
UTSW |
13 |
34,883,599 (GRCm38) |
unclassified |
probably benign |
|
|
R5028:Prpf4b
|
UTSW |
13 |
34,899,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5232:Prpf4b
|
UTSW |
13 |
34,883,590 (GRCm38) |
unclassified |
probably benign |
|
|
R5313:Prpf4b
|
UTSW |
13 |
34,894,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5511:Prpf4b
|
UTSW |
13 |
34,884,054 (GRCm38) |
unclassified |
probably benign |
|
|
R5863:Prpf4b
|
UTSW |
13 |
34,899,128 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R5981:Prpf4b
|
UTSW |
13 |
34,886,710 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6360:Prpf4b
|
UTSW |
13 |
34,901,433 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6398:Prpf4b
|
UTSW |
13 |
34,900,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6556:Prpf4b
|
UTSW |
13 |
34,896,032 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6880:Prpf4b
|
UTSW |
13 |
34,894,453 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7133:Prpf4b
|
UTSW |
13 |
34,901,494 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7148:Prpf4b
|
UTSW |
13 |
34,894,472 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7208:Prpf4b
|
UTSW |
13 |
34,884,011 (GRCm38) |
missense |
unknown |
|
|
R7966:Prpf4b
|
UTSW |
13 |
34,901,445 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8241:Prpf4b
|
UTSW |
13 |
34,895,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8298:Prpf4b
|
UTSW |
13 |
34,888,183 (GRCm38) |
missense |
unknown |
|
|
R9609:Prpf4b
|
UTSW |
13 |
34,884,049 (GRCm38) |
missense |
unknown |
|
|
R9710:Prpf4b
|
UTSW |
13 |
34,899,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF002:Prpf4b
|
UTSW |
13 |
34,884,236 (GRCm38) |
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 |
Incidental Mutation