Incidental Mutation 'R4633:Prpf4b'
ID |
349374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf4b
|
Ensembl Gene |
ENSMUSG00000021413 |
Gene Name |
pre-mRNA processing factor 4B |
Synonyms |
Prpk, Prp4k, Prp4 |
MMRRC Submission |
041898-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4633 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
35059285-35090047 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35084425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 938
(T938A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152654
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077853]
[ENSMUST00000222509]
|
AlphaFold |
Q61136 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077853
AA Change: T938A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077019 Gene: ENSMUSG00000021413 AA Change: T938A
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 damaging
Transcript: ENSMUST00000222509
AA Change: T938A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223228
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222834
|
Meta Mutation Damage Score |
0.4708 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
95% (73/77) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,606,503 (GRCm39) |
L786Q |
probably null |
Het |
Abcb6 |
A |
T |
1: 75,154,426 (GRCm39) |
|
probably benign |
Het |
Alg10b |
T |
C |
15: 90,112,497 (GRCm39) |
V447A |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
B4galt7 |
A |
G |
13: 55,756,563 (GRCm39) |
H203R |
probably damaging |
Het |
Cd44 |
T |
G |
2: 102,683,392 (GRCm39) |
D214A |
possibly damaging |
Het |
Ces1c |
T |
C |
8: 93,845,014 (GRCm39) |
D275G |
probably benign |
Het |
Cnot11 |
G |
T |
1: 39,575,299 (GRCm39) |
W127L |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,052,620 (GRCm39) |
I2168T |
probably damaging |
Het |
Cyp3a59 |
T |
C |
5: 146,031,248 (GRCm39) |
F137S |
probably damaging |
Het |
Dst |
T |
A |
1: 34,209,515 (GRCm39) |
L1234Q |
probably damaging |
Het |
Erbb2 |
T |
A |
11: 98,323,814 (GRCm39) |
I676N |
possibly damaging |
Het |
Erlin1 |
G |
A |
19: 44,029,204 (GRCm39) |
R243C |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,076,990 (GRCm39) |
L576P |
probably damaging |
Het |
Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
Glg1 |
C |
T |
8: 111,904,276 (GRCm39) |
|
probably null |
Het |
Gpr139 |
A |
T |
7: 118,743,628 (GRCm39) |
I319N |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,487,279 (GRCm39) |
H3425N |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,555,020 (GRCm39) |
D118G |
possibly damaging |
Het |
Klra13-ps |
T |
G |
6: 130,268,136 (GRCm39) |
|
noncoding transcript |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Krt5 |
T |
A |
15: 101,620,042 (GRCm39) |
D225V |
probably damaging |
Het |
Krtap4-9 |
G |
T |
11: 99,676,380 (GRCm39) |
|
probably benign |
Het |
Lama1 |
C |
A |
17: 68,105,579 (GRCm39) |
A2029E |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,291,761 (GRCm39) |
T3473S |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,509,957 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
G |
A |
10: 103,036,424 (GRCm39) |
R910* |
probably null |
Het |
Map1b |
C |
T |
13: 99,571,450 (GRCm39) |
V424M |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,197,737 (GRCm39) |
I85T |
possibly damaging |
Het |
Mylk2 |
T |
C |
2: 152,759,335 (GRCm39) |
S369P |
probably benign |
Het |
Myom3 |
T |
G |
4: 135,503,010 (GRCm39) |
F362L |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,699,684 (GRCm39) |
|
probably benign |
Het |
Or10s1 |
T |
A |
9: 39,985,630 (GRCm39) |
V13E |
probably damaging |
Het |
Or1p1 |
T |
G |
11: 74,180,120 (GRCm39) |
M216R |
probably benign |
Het |
Or2l13b |
C |
T |
16: 19,349,034 (GRCm39) |
G212D |
possibly damaging |
Het |
Or2w4 |
A |
G |
13: 21,795,398 (GRCm39) |
V247A |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,885,048 (GRCm39) |
L1376F |
unknown |
Het |
Phykpl |
C |
A |
11: 51,484,435 (GRCm39) |
A208E |
probably damaging |
Het |
Pla2g15 |
T |
C |
8: 106,886,887 (GRCm39) |
F126S |
probably damaging |
Het |
Polq |
T |
G |
16: 36,868,904 (GRCm39) |
M479R |
probably damaging |
Het |
Psma1 |
A |
G |
7: 113,870,369 (GRCm39) |
M63T |
probably damaging |
Het |
Rbpms2 |
T |
C |
9: 65,558,918 (GRCm39) |
S174P |
probably benign |
Het |
Rcc1 |
G |
T |
4: 132,063,080 (GRCm39) |
S162R |
probably damaging |
Het |
Rev3l |
T |
G |
10: 39,722,182 (GRCm39) |
L2520R |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,085,443 (GRCm39) |
|
probably null |
Het |
Rps19 |
G |
T |
7: 24,588,595 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Selenof |
C |
T |
3: 144,302,622 (GRCm39) |
R116* |
probably null |
Het |
Slc16a11 |
T |
C |
11: 70,107,205 (GRCm39) |
|
probably null |
Het |
Stk3 |
A |
G |
15: 34,959,074 (GRCm39) |
V296A |
probably damaging |
Het |
Taar8b |
C |
A |
10: 23,968,150 (GRCm39) |
E15* |
probably null |
Het |
Tas2r102 |
T |
A |
6: 132,739,642 (GRCm39) |
N183K |
possibly damaging |
Het |
Tet2 |
T |
A |
3: 133,191,310 (GRCm39) |
E1041D |
probably benign |
Het |
Tm9sf1 |
A |
G |
14: 55,878,660 (GRCm39) |
V244A |
probably damaging |
Het |
Trgc4 |
G |
T |
13: 19,536,457 (GRCm39) |
V172F |
probably benign |
Het |
Trim24 |
T |
A |
6: 37,933,371 (GRCm39) |
I650K |
probably damaging |
Het |
Trim59 |
G |
T |
3: 68,944,747 (GRCm39) |
Q198K |
probably benign |
Het |
Ttc28 |
C |
T |
5: 111,371,867 (GRCm39) |
T772I |
probably damaging |
Het |
Tvp23a |
C |
T |
16: 10,244,909 (GRCm39) |
V146M |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,509,428 (GRCm39) |
D11V |
possibly damaging |
Het |
Usp48 |
A |
G |
4: 137,362,211 (GRCm39) |
K32R |
probably damaging |
Het |
Uspl1 |
A |
G |
5: 149,151,202 (GRCm39) |
K801E |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,588,814 (GRCm39) |
I2452V |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,123,757 (GRCm39) |
L228P |
probably damaging |
Het |
Yju2b |
T |
C |
8: 84,987,024 (GRCm39) |
T158A |
probably benign |
Het |
Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
Zfp872 |
G |
T |
9: 22,108,490 (GRCm39) |
|
probably null |
Het |
Zswim8 |
A |
G |
14: 20,768,891 (GRCm39) |
E1110G |
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 |
|
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'- GGCTAAGCACTGCAGACTTG -3'
(R):5'- GTCACTTTAGAAGCAGCCACAG -3'
Sequencing Primer
(F):5'- GCAGACTTGCTAAGAGCTCTTGC -3'
(R):5'- GCTCCACAAACCACACAGAACTC -3'
|
Posted On |
2015-10-08 |