Incidental Mutation 'IGL02027:Prpf4b'
| ID |
184224 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf4b
|
| Ensembl Gene |
ENSMUSG00000021413 |
| Gene Name |
pre-mRNA processing factor 4B |
| Synonyms |
Prp4, Prp4k, Prpk |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
34875302-34906064 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34889571 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 543
(I543T)
|
| 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: I543T
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: I543T
| 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 |
unknown
Transcript: ENSMUST00000220965
AA Change: I46T
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221639
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222509
AA Change: I543T
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
A |
G |
1: 134,431,185 (GRCm38) |
T312A |
probably benign |
Het |
| Begain |
T |
G |
12: 109,034,309 (GRCm38) |
K384Q |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,060,604 (GRCm38) |
I393V |
probably benign |
Het |
| Catsperz |
A |
G |
19: 6,925,296 (GRCm38) |
V5A |
probably benign |
Het |
| Cbx1 |
T |
A |
11: 96,801,489 (GRCm38) |
F67L |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,341,286 (GRCm38) |
|
probably benign |
Het |
| Ctgf |
A |
G |
10: 24,596,409 (GRCm38) |
S117G |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,287,594 (GRCm38) |
D3259E |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,297,951 (GRCm38) |
Y307H |
probably damaging |
Het |
| Dcaf6 |
A |
C |
1: 165,424,341 (GRCm38) |
D71E |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,467,843 (GRCm38) |
K152* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 28,075,204 (GRCm38) |
D68N |
probably damaging |
Het |
| Gm6576 |
A |
G |
15: 27,025,866 (GRCm38) |
|
noncoding transcript |
Het |
| Has2 |
T |
C |
15: 56,668,171 (GRCm38) |
T383A |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,926,321 (GRCm38) |
K203* |
probably null |
Het |
| Il1f9 |
A |
T |
2: 24,192,785 (GRCm38) |
I191L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,087,342 (GRCm38) |
I116T |
possibly damaging |
Het |
| Itga1 |
C |
T |
13: 114,990,055 (GRCm38) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,209,089 (GRCm38) |
D891G |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,756,794 (GRCm38) |
|
noncoding transcript |
Het |
| Lama3 |
A |
G |
18: 12,516,513 (GRCm38) |
K1776E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,712,948 (GRCm38) |
S1110P |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,580,519 (GRCm38) |
K158* |
probably null |
Het |
| Lrrc9 |
T |
A |
12: 72,470,334 (GRCm38) |
|
probably benign |
Het |
| Met |
A |
G |
6: 17,563,727 (GRCm38) |
|
probably benign |
Het |
| Mmp13 |
A |
G |
9: 7,272,955 (GRCm38) |
Y105C |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 40,993,601 (GRCm38) |
E1151G |
probably damaging |
Het |
| Nov |
T |
C |
15: 54,747,934 (GRCm38) |
V155A |
probably damaging |
Het |
| Nptx1 |
T |
C |
11: 119,544,596 (GRCm38) |
D298G |
possibly damaging |
Het |
| Pdlim1 |
T |
C |
19: 40,243,466 (GRCm38) |
N156S |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,854,673 (GRCm38) |
|
probably benign |
Het |
| Pex5 |
A |
G |
6: 124,398,888 (GRCm38) |
S448P |
probably benign |
Het |
| Polr3e |
G |
T |
7: 120,930,963 (GRCm38) |
R124L |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 36,952,472 (GRCm38) |
R392C |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,843,443 (GRCm38) |
S305G |
possibly damaging |
Het |
| Repin1 |
A |
G |
6: 48,596,473 (GRCm38) |
H56R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,597,112 (GRCm38) |
L408H |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 110,461,141 (GRCm38) |
Q205H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 63,926,829 (GRCm38) |
P990S |
probably benign |
Het |
| Slc33a1 |
G |
T |
3: 63,948,141 (GRCm38) |
P361Q |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,815,657 (GRCm38) |
|
probably benign |
Het |
| Ttc25 |
C |
T |
11: 100,569,902 (GRCm38) |
T495M |
probably damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,323,059 (GRCm38) |
T193A |
possibly damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,985,655 (GRCm38) |
I105K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,738,038 (GRCm38) |
|
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 |
|
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 |
|
R5440:Prpf4b
|
UTSW |
13 |
34,884,093 (GRCm38) |
unclassified |
probably benign |
|
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation