Incidental Mutation 'R9609:Prpf4b'
| ID |
724111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf4b
|
| Ensembl Gene |
ENSMUSG00000021413 |
| Gene Name |
pre-mRNA processing factor 4B |
| Synonyms |
Prpk, Prp4k, Prp4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9609 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
35059285-35090047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35068032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 287
(D287G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077853]
[ENSMUST00000222509]
|
| AlphaFold |
Q61136 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000077853
AA Change: D287G
|
| SMART Domains |
Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: D287G
| 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 |
unknown
Transcript: ENSMUST00000222509
AA Change: D287G
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,208,549 (GRCm39) |
S241P |
probably damaging |
Het |
| Adam23 |
A |
T |
1: 63,576,102 (GRCm39) |
M295L |
probably benign |
Het |
| Ano8 |
T |
A |
8: 71,933,726 (GRCm39) |
D522V |
unknown |
Het |
| Asgr2 |
T |
C |
11: 69,988,667 (GRCm39) |
L120P |
probably damaging |
Het |
| Atp5mc2 |
A |
G |
15: 102,573,580 (GRCm39) |
F79L |
probably damaging |
Het |
| Baiap2 |
C |
T |
11: 119,847,958 (GRCm39) |
R29C |
probably damaging |
Het |
| Bicdl2 |
A |
G |
17: 23,884,513 (GRCm39) |
E145G |
|
Het |
| Cad |
T |
C |
5: 31,228,018 (GRCm39) |
|
probably null |
Het |
| Dhrs7b |
A |
G |
11: 60,735,121 (GRCm39) |
R51G |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,670,236 (GRCm39) |
Y694N |
probably damaging |
Het |
| Dnaja4 |
G |
A |
9: 54,616,644 (GRCm39) |
G216S |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,607,362 (GRCm39) |
V2651A |
probably benign |
Het |
| Fbxw28 |
T |
C |
9: 109,167,515 (GRCm39) |
T81A |
probably benign |
Het |
| Fga |
A |
T |
3: 82,940,064 (GRCm39) |
I573F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,879,674 (GRCm39) |
I176N |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,214,653 (GRCm39) |
C41* |
probably null |
Het |
| Fibcd1 |
A |
G |
2: 31,728,653 (GRCm39) |
V68A |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,286 (GRCm39) |
D328G |
probably benign |
Het |
| Gtpbp10 |
A |
C |
5: 5,607,396 (GRCm39) |
F15C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,555,346 (GRCm39) |
V2475D |
probably damaging |
Het |
| Iglv3 |
A |
G |
16: 19,060,221 (GRCm39) |
S36P |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,226,869 (GRCm39) |
T2268N |
probably damaging |
Het |
| Krt75 |
A |
G |
15: 101,474,677 (GRCm39) |
I473T |
probably benign |
Het |
| Lcn3 |
A |
G |
2: 25,657,596 (GRCm39) |
E162G |
possibly damaging |
Het |
| Lnpk |
A |
G |
2: 74,401,298 (GRCm39) |
V17A |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,700,081 (GRCm39) |
S643G |
unknown |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mlip |
T |
A |
9: 77,045,797 (GRCm39) |
L894F |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,577,234 (GRCm39) |
T175S |
|
Het |
| Nkpd1 |
A |
C |
7: 19,257,462 (GRCm39) |
I414L |
possibly damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,540,203 (GRCm39) |
N834K |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,843,599 (GRCm39) |
T99A |
probably benign |
Het |
| Patj |
T |
G |
4: 98,576,473 (GRCm39) |
F570L |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,614,443 (GRCm39) |
T107A |
|
Het |
| Ppp1r12b |
G |
A |
1: 134,824,084 (GRCm39) |
Q180* |
probably null |
Het |
| Rab17 |
T |
C |
1: 90,891,907 (GRCm39) |
Y39C |
probably damaging |
Het |
| Rbsn |
T |
A |
6: 92,179,565 (GRCm39) |
I125F |
probably damaging |
Het |
| Rnf207 |
C |
A |
4: 152,402,222 (GRCm39) |
G74C |
probably damaging |
Het |
| Rrs1 |
T |
C |
1: 9,616,518 (GRCm39) |
L257P |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,683,848 (GRCm39) |
E3072G |
probably damaging |
Het |
| Scn8a |
A |
C |
15: 100,834,407 (GRCm39) |
I68L |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,532,636 (GRCm39) |
I413F |
probably damaging |
Het |
| Slc4a11 |
T |
A |
2: 130,530,035 (GRCm39) |
T248S |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,215,419 (GRCm39) |
I471T |
unknown |
Het |
| Tbpl2 |
C |
T |
2: 23,977,197 (GRCm39) |
D274N |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,902,543 (GRCm39) |
M200T |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,850,117 (GRCm39) |
I851V |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,113,208 (GRCm39) |
V298E |
possibly damaging |
Het |
| Trav6-3 |
A |
G |
14: 53,667,618 (GRCm39) |
N41S |
possibly damaging |
Het |
| Trim17 |
C |
A |
11: 58,855,964 (GRCm39) |
A7D |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,758,148 (GRCm39) |
T829A |
probably damaging |
Het |
| Ugt3a1 |
A |
C |
15: 9,361,905 (GRCm39) |
E227A |
probably damaging |
Het |
| Vmn1r218 |
C |
T |
13: 23,320,839 (GRCm39) |
T62I |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,743,732 (GRCm39) |
L465P |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,841,831 (GRCm39) |
Q1951L |
probably damaging |
Het |
| Wdcp |
A |
G |
12: 4,900,258 (GRCm39) |
D38G |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,150,751 (GRCm39) |
V23D |
unknown |
Het |
| Zkscan8 |
C |
A |
13: 21,709,434 (GRCm39) |
V155F |
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 |
|
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 |
|
|
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'- GCAAGTCTCAAGACCAAGCTAG -3'
(R):5'- AGCGGAGACCTACTTCTTCTTG -3'
Sequencing Primer
(F):5'- GTCTCAAGACCAAGCTAGAAAGTC -3'
(R):5'- TAGGACTACGGCCAGGTCTTCTAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation