Incidental Mutation 'ANU18:Prpf4b'
| ID |
262553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf4b
|
| Ensembl Gene |
ENSMUSG00000021413 |
| Gene Name |
pre-mRNA processing factor 4B |
| Synonyms |
Prpk, Prp4k, Prp4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
ANU18
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
35059285-35090047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35068274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 368
(S368P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077853]
[ENSMUST00000222509]
|
| AlphaFold |
Q61136 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077853
AA Change: S368P
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: S368P
| 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 |
probably benign
Transcript: ENSMUST00000222509
AA Change: S368P
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
T |
17: 15,164,181 (GRCm39) |
|
probably null |
Het |
| Acacb |
A |
T |
5: 114,384,559 (GRCm39) |
I2238L |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,710 (GRCm39) |
Y95C |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,551,425 (GRCm39) |
T1056A |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,005,648 (GRCm39) |
T250A |
possibly damaging |
Het |
| Cela3b |
A |
T |
4: 137,151,154 (GRCm39) |
|
probably null |
Het |
| Chst3 |
T |
C |
10: 60,021,654 (GRCm39) |
T398A |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,425,625 (GRCm39) |
T478A |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,652 (GRCm39) |
L45P |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,059,568 (GRCm39) |
S111P |
probably benign |
Het |
| Defb21 |
A |
G |
2: 152,416,671 (GRCm39) |
E49G |
possibly damaging |
Het |
| Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,890,793 (GRCm39) |
S325P |
probably benign |
Het |
| Fam91a1 |
T |
C |
15: 58,314,720 (GRCm39) |
F534L |
probably damaging |
Het |
| Fermt2 |
T |
C |
14: 45,702,320 (GRCm39) |
E488G |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,726,462 (GRCm39) |
D719G |
possibly damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,281,013 (GRCm39) |
|
noncoding transcript |
Het |
| Glra3 |
C |
A |
8: 56,393,997 (GRCm39) |
A36E |
probably benign |
Het |
| Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
| Lct |
T |
A |
1: 128,235,784 (GRCm39) |
R408* |
probably null |
Het |
| Lrrk2 |
T |
A |
15: 91,651,542 (GRCm39) |
Y1733N |
probably damaging |
Het |
| Mindy1 |
T |
C |
3: 95,195,701 (GRCm39) |
L148P |
probably damaging |
Het |
| Mkrn2 |
C |
A |
6: 115,588,750 (GRCm39) |
Y164* |
probably null |
Het |
| Msra |
T |
C |
14: 64,447,884 (GRCm39) |
Y135C |
probably damaging |
Het |
| Ndst3 |
C |
T |
3: 123,342,565 (GRCm39) |
A749T |
probably damaging |
Het |
| Ngdn |
G |
T |
14: 55,254,571 (GRCm39) |
A41S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,288,722 (GRCm39) |
S597T |
probably damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
| Pabpc6 |
A |
G |
17: 9,886,899 (GRCm39) |
S551P |
probably benign |
Het |
| Plekhg5 |
C |
T |
4: 152,197,010 (GRCm39) |
A752V |
probably benign |
Het |
| Pus7 |
A |
G |
5: 23,951,422 (GRCm39) |
|
probably null |
Het |
| Rab40b |
C |
G |
11: 121,248,788 (GRCm39) |
V156L |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
probably benign |
Het |
| Tmem26 |
A |
T |
10: 68,614,436 (GRCm39) |
N284Y |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,211,250 (GRCm39) |
I232V |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,818 (GRCm39) |
L1106P |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,032,786 (GRCm39) |
Y541H |
probably damaging |
Het |
| Zfp213 |
G |
T |
17: 23,780,391 (GRCm39) |
A43D |
probably benign |
Het |
| Zfp365 |
A |
G |
10: 67,745,184 (GRCm39) |
V198A |
probably damaging |
Het |
| Zfp618 |
G |
A |
4: 63,051,063 (GRCm39) |
V615M |
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 |
|
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 |
|
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'- ACTCGGGGAAAACTTGAAATTACGGAC -3'
(R):5'- CGTGAACAGGTTACCTCGGAGAAG -3'
Sequencing Primer
(F):5'- AAGGCCAGATCTCCTGCTG -3'
(R):5'- GAGAAGAAAGTCGTCTCCTCTCTG -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation