Incidental Mutation 'R5232:Prpf4b'
| ID |
398637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf4b
|
| Ensembl Gene |
ENSMUSG00000021413 |
| Gene Name |
pre-mRNA processing factor 4B |
| Synonyms |
Prpk, Prp4k, Prp4 |
| MMRRC Submission |
042804-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5232 (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 A
at 35067573 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: M134K
|
| SMART Domains |
Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: M134K
| 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: M134K
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,157,672 (GRCm39) |
E1295G |
probably damaging |
Het |
| Adarb2 |
C |
A |
13: 8,763,676 (GRCm39) |
H524Q |
possibly damaging |
Het |
| Arhgap26 |
A |
G |
18: 39,126,529 (GRCm39) |
M1V |
probably null |
Het |
| Atp10b |
G |
A |
11: 43,093,006 (GRCm39) |
R447H |
probably damaging |
Het |
| B4galnt3 |
T |
A |
6: 120,209,949 (GRCm39) |
Y58F |
probably damaging |
Het |
| Cdca7l |
A |
G |
12: 117,833,820 (GRCm39) |
E79G |
probably damaging |
Het |
| Chd4 |
C |
G |
6: 125,098,273 (GRCm39) |
P350A |
probably damaging |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,483,013 (GRCm39) |
C244* |
probably null |
Het |
| Cyfip2 |
A |
G |
11: 46,133,205 (GRCm39) |
S832P |
probably damaging |
Het |
| Dnaaf1 |
A |
C |
8: 120,317,329 (GRCm39) |
E286A |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,323 (GRCm39) |
K188R |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,052,284 (GRCm39) |
W5R |
possibly damaging |
Het |
| Gm5565 |
T |
A |
5: 146,096,947 (GRCm39) |
Y64F |
possibly damaging |
Het |
| Golga4 |
G |
A |
9: 118,335,626 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,347,760 (GRCm39) |
L4802P |
probably damaging |
Het |
| Hnrnpll |
C |
T |
17: 80,346,107 (GRCm39) |
V385I |
probably damaging |
Het |
| Kctd9 |
A |
T |
14: 67,962,110 (GRCm39) |
D51V |
probably damaging |
Het |
| Lcn9 |
T |
C |
2: 25,714,067 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
A |
2: 121,132,466 (GRCm39) |
P856H |
probably damaging |
Het |
| Myo5b |
G |
C |
18: 74,848,003 (GRCm39) |
E1080D |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,960,976 (GRCm39) |
I9T |
probably benign |
Het |
| Ndst3 |
A |
T |
3: 123,465,888 (GRCm39) |
I28N |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,122 (GRCm39) |
N424D |
probably damaging |
Het |
| Or11g26 |
T |
A |
14: 50,753,495 (GRCm39) |
V278E |
probably damaging |
Het |
| Or4n5 |
A |
G |
14: 50,133,155 (GRCm39) |
Y35H |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,680 (GRCm39) |
T171A |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,986,317 (GRCm39) |
V605A |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,503,279 (GRCm39) |
M1185K |
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,320,320 (GRCm39) |
H324Q |
probably damaging |
Het |
| Pxdn |
C |
T |
12: 30,040,987 (GRCm39) |
T421I |
probably benign |
Het |
| Sertad2 |
C |
T |
11: 20,598,344 (GRCm39) |
T180I |
possibly damaging |
Het |
| Sgo2b |
C |
A |
8: 64,381,636 (GRCm39) |
A399S |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,434,841 (GRCm39) |
K1043E |
unknown |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Spock3 |
T |
C |
8: 63,798,843 (GRCm39) |
F288S |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,676,816 (GRCm39) |
I393V |
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,178,214 (GRCm39) |
K429R |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,610,846 (GRCm39) |
F447L |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,916 (GRCm39) |
M662T |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,829,104 (GRCm39) |
Y1152C |
probably damaging |
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 |
|
R5313:Prpf4b
|
UTSW |
13 |
35,078,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:Prpf4b
|
UTSW |
13 |
35,068,076 (GRCm39) |
unclassified |
probably benign |
|
|
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'- GGAGAGGTATCAGAAGACCAATCTC -3'
(R):5'- AGCTTGGTCTTGAGACTTGC -3'
Sequencing Primer
(F):5'- ACATTCCTCAGAAGAAGATAGGG -3'
(R):5'- GTCCGATCTGTGCCTGGTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation