Incidental Mutation 'PIT4696001:Prpf4b'
| ID |
556812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf4b
|
| Ensembl Gene |
ENSMUSG00000021413 |
| Gene Name |
pre-mRNA processing factor 4B |
| Synonyms |
Prpk, Prp4k, Prp4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4696001 (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 35083825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 865
(S865G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077853]
[ENSMUST00000222509]
|
| AlphaFold |
Q61136 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077853
AA Change: S865G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: S865G
| 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 benign
Transcript: ENSMUST00000222509
AA Change: S865G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 91.0%
- 10x: 86.2%
- 20x: 75.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
G |
A |
7: 119,384,209 (GRCm39) |
|
probably null |
Het |
| Adam20 |
T |
A |
8: 41,247,985 (GRCm39) |
Y32N |
probably benign |
Het |
| Adm |
T |
C |
7: 110,227,496 (GRCm39) |
V4A |
probably benign |
Het |
| Anpep |
G |
A |
7: 79,489,212 (GRCm39) |
T320I |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,672,341 (GRCm39) |
S1008G |
possibly damaging |
Het |
| B9d1 |
T |
A |
11: 61,396,069 (GRCm39) |
M12K |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,229,438 (GRCm39) |
L1435P |
probably damaging |
Het |
| Cat |
T |
C |
2: 103,302,157 (GRCm39) |
D180G |
probably damaging |
Het |
| Cntln |
C |
T |
4: 84,892,237 (GRCm39) |
T374M |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,540,404 (GRCm39) |
R339Q |
probably benign |
Het |
| Defa22 |
T |
C |
8: 21,652,352 (GRCm39) |
L6P |
probably damaging |
Het |
| Dr1 |
T |
A |
5: 108,417,604 (GRCm39) |
I50K |
probably damaging |
Het |
| Eln |
C |
T |
5: 134,766,032 (GRCm39) |
G57E |
unknown |
Het |
| Fat4 |
T |
C |
3: 38,943,153 (GRCm39) |
I682T |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,506 (GRCm39) |
A3386E |
probably damaging |
Het |
| Fcgr3 |
T |
A |
1: 170,885,319 (GRCm39) |
Y102F |
probably damaging |
Het |
| Gm5930 |
A |
T |
14: 44,573,993 (GRCm39) |
L115M |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,386,291 (GRCm39) |
V3748D |
probably damaging |
Het |
| Ino80d |
A |
G |
1: 63,125,145 (GRCm39) |
S106P |
probably benign |
Het |
| Kcns3 |
C |
T |
12: 11,142,749 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,512,830 (GRCm39) |
L1527Q |
probably damaging |
Het |
| Lepr |
T |
G |
4: 101,637,180 (GRCm39) |
S690A |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,890,343 (GRCm39) |
F544S |
probably damaging |
Het |
| Mapkap1 |
C |
A |
2: 34,509,861 (GRCm39) |
H450Q |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,445 (GRCm39) |
T485A |
probably benign |
Het |
| Megf10 |
T |
C |
18: 57,410,760 (GRCm39) |
C690R |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,712,806 (GRCm39) |
M1723T |
probably benign |
Het |
| Nrip3 |
A |
T |
7: 109,364,714 (GRCm39) |
C137* |
probably null |
Het |
| Or5w22 |
T |
A |
2: 87,363,124 (GRCm39) |
I249N |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,122,297 (GRCm39) |
M731K |
probably benign |
Het |
| Pebp1 |
A |
G |
5: 117,421,527 (GRCm39) |
L117P |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,598,995 (GRCm39) |
Y51H |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,284,713 (GRCm39) |
F50S |
probably benign |
Het |
| Ptpn5 |
C |
T |
7: 46,738,354 (GRCm39) |
V243M |
probably benign |
Het |
| Rora |
T |
C |
9: 69,271,841 (GRCm39) |
L273P |
possibly damaging |
Het |
| Rtp4 |
T |
A |
16: 23,432,204 (GRCm39) |
S245R |
probably benign |
Het |
| Scgb2b20 |
C |
T |
7: 33,063,985 (GRCm39) |
G95D |
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,788,040 (GRCm39) |
V820A |
probably benign |
Het |
| Sim2 |
A |
G |
16: 93,895,168 (GRCm39) |
D62G |
possibly damaging |
Het |
| Slc17a4 |
A |
T |
13: 24,084,497 (GRCm39) |
V429D |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,852,799 (GRCm39) |
T42A |
probably damaging |
Het |
| Spata3 |
G |
A |
1: 85,952,169 (GRCm39) |
R141Q |
unknown |
Het |
| Sptbn2 |
A |
T |
19: 4,795,605 (GRCm39) |
E1658D |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,655,473 (GRCm39) |
H501R |
probably benign |
Het |
| Tec |
G |
A |
5: 72,931,178 (GRCm39) |
T262M |
possibly damaging |
Het |
| Timm9 |
A |
T |
12: 71,172,305 (GRCm39) |
N22K |
possibly damaging |
Het |
| Tln1 |
C |
T |
4: 43,542,701 (GRCm39) |
|
probably null |
Het |
| Tmbim4 |
A |
G |
10: 120,053,529 (GRCm39) |
I109M |
probably benign |
Het |
| Tmc7 |
T |
C |
7: 118,163,566 (GRCm39) |
K110E |
probably benign |
Het |
| Tmem107 |
C |
T |
11: 68,963,399 (GRCm39) |
P136L |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,061,563 (GRCm39) |
|
probably null |
Het |
| Ubd |
A |
C |
17: 37,506,335 (GRCm39) |
T74P |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,269,486 (GRCm39) |
V255A |
possibly damaging |
Het |
| Vsnl1 |
T |
C |
12: 11,376,448 (GRCm39) |
T146A |
probably benign |
Het |
| Wdr38 |
G |
T |
2: 38,889,984 (GRCm39) |
|
probably null |
Het |
| Yes1 |
T |
A |
5: 32,841,969 (GRCm39) |
S498T |
possibly damaging |
Het |
| Zc3h13 |
G |
A |
14: 75,569,323 (GRCm39) |
R1390H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,949 (GRCm39) |
V126A |
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 |
|
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 |
|
|
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'- AAACCTGTTGGCAGTTCTTTG -3'
(R):5'- TGACAAAGTCTCAGTCTACAGGAAG -3'
Sequencing Primer
(F):5'- AAGCTAAGGTAGCCCCAT -3'
(R):5'- TCTCAGTCTACAGGAAGGAAGTTAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation