Incidental Mutation 'R7966:Prpf4b'
ID |
650390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf4b
|
Ensembl Gene |
ENSMUSG00000021413 |
Gene Name |
pre-mRNA processing factor 4B |
Synonyms |
Prpk, Prp4k, Prp4 |
MMRRC Submission |
046009-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7966 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
35059285-35090047 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35085428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 958
(D958G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077019
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077853]
[ENSMUST00000222509]
|
AlphaFold |
Q61136 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077853
AA Change: D958G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000077019 Gene: ENSMUSG00000021413 AA Change: D958G
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 |
probably benign
Transcript: ENSMUST00000221077
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222509
AA Change: D958G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (52/53) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
T |
12: 71,219,903 (GRCm39) |
I817L |
probably benign |
Het |
Adcy8 |
A |
T |
15: 64,573,939 (GRCm39) |
W1055R |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,781,923 (GRCm39) |
E318G |
probably benign |
Het |
Arid3a |
A |
G |
10: 79,767,889 (GRCm39) |
T229A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,858,580 (GRCm39) |
K247E |
possibly damaging |
Het |
Cfap52 |
A |
T |
11: 67,844,571 (GRCm39) |
|
probably null |
Het |
Ckap4 |
A |
G |
10: 84,363,449 (GRCm39) |
V538A |
probably damaging |
Het |
Cped1 |
T |
C |
6: 22,059,953 (GRCm39) |
|
probably null |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Cyp4v3 |
G |
T |
8: 45,785,954 (GRCm39) |
A21E |
probably benign |
Het |
Cytip |
T |
C |
2: 58,037,944 (GRCm39) |
E140G |
probably damaging |
Het |
D130043K22Rik |
A |
C |
13: 25,077,406 (GRCm39) |
Q1013P |
probably damaging |
Het |
Dpp6 |
A |
G |
5: 27,928,370 (GRCm39) |
M763V |
probably benign |
Het |
Eps15 |
T |
A |
4: 109,178,340 (GRCm39) |
Y193N |
probably damaging |
Het |
Ghrhr |
T |
C |
6: 55,356,083 (GRCm39) |
W59R |
probably damaging |
Het |
Hdac4 |
A |
G |
1: 91,861,402 (GRCm39) |
V1056A |
possibly damaging |
Het |
Ipcef1 |
T |
C |
10: 6,850,668 (GRCm39) |
T312A |
probably damaging |
Het |
Itpr3 |
T |
C |
17: 27,331,002 (GRCm39) |
|
probably null |
Het |
Kif6 |
A |
G |
17: 49,993,453 (GRCm39) |
I182V |
probably damaging |
Het |
Lcn3 |
A |
G |
2: 25,656,389 (GRCm39) |
K90E |
probably damaging |
Het |
Lig3 |
T |
C |
11: 82,681,342 (GRCm39) |
S446P |
probably damaging |
Het |
Ncln |
G |
A |
10: 81,326,103 (GRCm39) |
Q283* |
probably null |
Het |
Nlrp4c |
A |
G |
7: 6,069,322 (GRCm39) |
T408A |
probably damaging |
Het |
Oas1h |
T |
C |
5: 121,009,962 (GRCm39) |
F346L |
probably damaging |
Het |
Olig2 |
AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC |
AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC |
16: 91,023,962 (GRCm39) |
|
probably benign |
Het |
Or2ad1 |
A |
T |
13: 21,326,356 (GRCm39) |
Y290* |
probably null |
Het |
Or52b4 |
T |
C |
7: 102,184,623 (GRCm39) |
I223T |
probably damaging |
Het |
Or52s1b |
A |
T |
7: 102,822,062 (GRCm39) |
F261I |
probably damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,536 (GRCm39) |
I246V |
probably benign |
Het |
Pdcd1 |
A |
T |
1: 93,969,186 (GRCm39) |
V44E |
probably damaging |
Het |
Prdm13 |
A |
T |
4: 21,679,932 (GRCm39) |
I186N |
unknown |
Het |
Prss59 |
A |
T |
6: 40,903,022 (GRCm39) |
Y117N |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
Robo1 |
T |
A |
16: 72,780,760 (GRCm39) |
I830N |
possibly damaging |
Het |
Scaper |
A |
G |
9: 55,669,611 (GRCm39) |
V355A |
probably damaging |
Het |
Scn3b |
C |
T |
9: 40,193,846 (GRCm39) |
A191V |
probably benign |
Het |
Slc13a3 |
G |
C |
2: 165,272,155 (GRCm39) |
S296C |
probably benign |
Het |
Slc6a16 |
T |
A |
7: 44,917,477 (GRCm39) |
I445N |
possibly damaging |
Het |
Snrnp35 |
A |
G |
5: 124,628,565 (GRCm39) |
Y126C |
possibly damaging |
Het |
Spock2 |
A |
G |
10: 59,957,554 (GRCm39) |
H98R |
possibly damaging |
Het |
Sptssb |
A |
T |
3: 69,728,286 (GRCm39) |
Y50* |
probably null |
Het |
Syne1 |
A |
G |
10: 5,066,965 (GRCm39) |
|
probably null |
Het |
Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
Tecta |
A |
G |
9: 42,306,258 (GRCm39) |
F57L |
probably damaging |
Het |
Tgs1 |
C |
A |
4: 3,586,215 (GRCm39) |
P364H |
probably benign |
Het |
Tmem242 |
A |
G |
17: 5,461,711 (GRCm39) |
I119T |
probably benign |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Vmn2r3 |
T |
A |
3: 64,186,235 (GRCm39) |
N150I |
probably damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,060,762 (GRCm39) |
I274T |
possibly damaging |
Het |
Vwf |
T |
A |
6: 125,616,304 (GRCm39) |
L1206* |
probably null |
Het |
Zfp157 |
T |
A |
5: 138,445,833 (GRCm39) |
W63R |
probably benign |
Het |
Zfp455 |
T |
C |
13: 67,347,302 (GRCm39) |
Y10H |
probably benign |
Het |
Zfp654 |
T |
C |
16: 64,605,239 (GRCm39) |
T447A |
probably damaging |
Het |
Zhx2 |
T |
C |
15: 57,685,063 (GRCm39) |
I144T |
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 |
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 |
|
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'- TGCTCACTGCGTGTTCATGG -3'
(R):5'- GCTTCCTCAAATTTGCTGCAG -3'
Sequencing Primer
(F):5'- ATTCTCTTTGAAAAGATGTGGAGG -3'
(R):5'- ACTGCTGTGAAATTTCTTCAGTC -3'
|
Posted On |
2020-09-15 |