Incidental Mutation 'R4653:Prpf4b'
ID |
351490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf4b
|
Ensembl Gene |
ENSMUSG00000021413 |
Gene Name |
pre-mRNA processing factor 4B |
Synonyms |
Prpk, Prp4k, Prp4 |
MMRRC Submission |
041913-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4653 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
35059285-35090047 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35083954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 908
(M908L)
|
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: M908L
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000077019 Gene: ENSMUSG00000021413 AA Change: M908L
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 |
noncoding transcript
Transcript: ENSMUST00000221087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221156
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221784
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222509
AA Change: M908L
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222834
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223228
|
Meta Mutation Damage Score |
0.0789 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (66/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,264 (GRCm39) |
T351A |
probably benign |
Het |
3930402G23Rik |
A |
T |
8: 10,976,075 (GRCm39) |
|
noncoding transcript |
Het |
4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
Abca4 |
G |
T |
3: 121,932,230 (GRCm39) |
E295* |
probably null |
Het |
Abi3 |
T |
C |
11: 95,723,637 (GRCm39) |
I215V |
probably benign |
Het |
Adhfe1 |
G |
T |
1: 9,620,803 (GRCm39) |
|
probably benign |
Het |
Akr1a1 |
A |
G |
4: 116,495,156 (GRCm39) |
|
probably benign |
Het |
Ank |
T |
A |
15: 27,590,447 (GRCm39) |
W344R |
probably null |
Het |
Cast |
A |
G |
13: 74,894,133 (GRCm39) |
S171P |
probably benign |
Het |
Ccdc39 |
A |
G |
3: 33,873,955 (GRCm39) |
|
probably null |
Het |
Cd180 |
T |
A |
13: 102,841,416 (GRCm39) |
L154H |
probably damaging |
Het |
Cnp |
A |
T |
11: 100,467,342 (GRCm39) |
D95V |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,461,897 (GRCm39) |
I20T |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,050,440 (GRCm39) |
K3042R |
possibly damaging |
Het |
Dpy19l1 |
A |
C |
9: 24,393,350 (GRCm39) |
S140A |
possibly damaging |
Het |
Dpys |
C |
A |
15: 39,656,642 (GRCm39) |
R475L |
probably damaging |
Het |
Dync1i2 |
A |
G |
2: 71,078,199 (GRCm39) |
N276S |
probably damaging |
Het |
Ext2 |
T |
C |
2: 93,526,504 (GRCm39) |
S711G |
probably benign |
Het |
Fancm |
A |
G |
12: 65,129,828 (GRCm39) |
Y223C |
probably damaging |
Het |
Folh1 |
C |
A |
7: 86,393,633 (GRCm39) |
G360* |
probably null |
Het |
Garin5b |
T |
C |
7: 4,761,054 (GRCm39) |
R553G |
possibly damaging |
Het |
Gcat |
T |
C |
15: 78,919,487 (GRCm39) |
S151P |
probably damaging |
Het |
Gcm2 |
A |
T |
13: 41,256,317 (GRCm39) |
D477E |
probably benign |
Het |
Git1 |
A |
G |
11: 77,395,869 (GRCm39) |
N468S |
possibly damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,273,272 (GRCm39) |
I622V |
probably benign |
Het |
Hsd17b13 |
G |
A |
5: 104,113,702 (GRCm39) |
L251F |
probably damaging |
Het |
Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
Llgl1 |
A |
G |
11: 60,599,477 (GRCm39) |
D486G |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,922,801 (GRCm39) |
I1366V |
probably benign |
Het |
Ly9 |
G |
T |
1: 171,421,597 (GRCm39) |
H441Q |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,882,511 (GRCm39) |
F514L |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,770,813 (GRCm39) |
|
probably null |
Het |
Nomo1 |
G |
T |
7: 45,711,237 (GRCm39) |
A639S |
probably benign |
Het |
P3h2 |
T |
C |
16: 25,924,027 (GRCm39) |
D136G |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,674,654 (GRCm39) |
D87E |
probably damaging |
Het |
Pdpk1 |
A |
T |
17: 24,325,871 (GRCm39) |
D108E |
probably benign |
Het |
Pex26 |
C |
T |
6: 121,167,084 (GRCm39) |
S231L |
probably damaging |
Het |
Prpf38b |
G |
A |
3: 108,811,408 (GRCm39) |
|
probably benign |
Het |
Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Ryr3 |
T |
A |
2: 112,483,108 (GRCm39) |
N4213I |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,311,831 (GRCm39) |
V63A |
probably damaging |
Het |
Sppl2a |
C |
T |
2: 126,762,233 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
A |
6: 48,455,580 (GRCm39) |
W3077R |
probably damaging |
Het |
Stag1 |
T |
A |
9: 100,678,769 (GRCm39) |
M230K |
probably damaging |
Het |
Sv2a |
T |
C |
3: 96,098,078 (GRCm39) |
|
probably null |
Het |
Themis2 |
A |
G |
4: 132,510,287 (GRCm39) |
S638P |
probably benign |
Het |
Trabd |
A |
G |
15: 88,970,042 (GRCm39) |
Y346C |
probably damaging |
Het |
Trim38 |
A |
T |
13: 23,966,952 (GRCm39) |
D133V |
probably damaging |
Het |
Trmt1l |
G |
A |
1: 151,315,320 (GRCm39) |
V16I |
probably benign |
Het |
Ube2b |
A |
G |
11: 51,886,199 (GRCm39) |
|
probably null |
Het |
Usp13 |
A |
T |
3: 32,892,073 (GRCm39) |
Q84L |
probably damaging |
Het |
Vmn1r172 |
G |
T |
7: 23,359,997 (GRCm39) |
G294V |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,693,228 (GRCm39) |
H457Q |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,553,114 (GRCm39) |
I714T |
possibly damaging |
Het |
Vps8 |
T |
C |
16: 21,318,960 (GRCm39) |
Y602H |
probably damaging |
Het |
Zbp1 |
G |
A |
2: 173,049,608 (GRCm39) |
P385S |
possibly 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 |
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'- TAAGGAGTCGCTCATTCTTATCC -3'
(R):5'- AATGTGCAGCTCTGTCCATC -3'
Sequencing Primer
(F):5'- AGGAGTCGCTCATTCTTATCCTCATG -3'
(R):5'- TACACAGCTGCATTCTTTCTCACTG -3'
|
Posted On |
2015-10-08 |