Incidental Mutation 'IGL03158:Prpf4'
| ID |
411324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf4
|
| Ensembl Gene |
ENSMUSG00000066148 |
| Gene Name |
pre-mRNA processing factor 4 |
| Synonyms |
1600015H11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
IGL03158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62327034-62345227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62334256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 237
(H237R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084524]
|
| AlphaFold |
Q9DAW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084524
AA Change: H237R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081572
Gene: ENSMUSG00000066148
AA Change: H237R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SFM
|
102 |
154 |
8.92e-25 |
SMART |
|
WD40
|
219 |
258 |
1.14e-3 |
SMART |
|
WD40
|
261 |
308 |
1.75e-4 |
SMART |
|
WD40
|
311 |
350 |
5.18e-7 |
SMART |
|
WD40
|
353 |
392 |
8.04e-4 |
SMART |
|
WD40
|
395 |
434 |
2.57e-11 |
SMART |
|
WD40
|
437 |
477 |
2.93e-6 |
SMART |
|
WD40
|
480 |
519 |
1.74e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
T |
C |
5: 122,955,960 (GRCm39) |
T157A |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,883,320 (GRCm39) |
E11G |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,023,683 (GRCm39) |
T90A |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,793,773 (GRCm39) |
|
probably benign |
Het |
| Fgl1 |
A |
T |
8: 41,662,810 (GRCm39) |
H58Q |
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,179,303 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,826,337 (GRCm39) |
|
probably null |
Het |
| Map1s |
T |
C |
8: 71,367,378 (GRCm39) |
L761P |
probably damaging |
Het |
| Mup21 |
T |
C |
4: 62,068,525 (GRCm39) |
E47G |
probably benign |
Het |
| Mup6 |
T |
A |
4: 60,005,480 (GRCm39) |
F104I |
possibly damaging |
Het |
| Or5w12 |
G |
A |
2: 87,502,135 (GRCm39) |
T192I |
probably benign |
Het |
| Or6c3b |
T |
A |
10: 129,527,587 (GRCm39) |
T108S |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,116,500 (GRCm39) |
D1550V |
possibly damaging |
Het |
| Prex2 |
C |
A |
1: 11,336,291 (GRCm39) |
S1496R |
possibly damaging |
Het |
| Pygl |
G |
T |
12: 70,242,449 (GRCm39) |
T578K |
probably damaging |
Het |
| Rem2 |
A |
G |
14: 54,716,415 (GRCm39) |
D176G |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,680,833 (GRCm39) |
V2143A |
probably benign |
Het |
| Wdr4 |
T |
C |
17: 31,718,102 (GRCm39) |
Q324R |
probably benign |
Het |
|
| Other mutations in Prpf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02305:Prpf4
|
APN |
4 |
62,333,633 (GRCm39) |
splice site |
probably benign |
|
|
R0389:Prpf4
|
UTSW |
4 |
62,340,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Prpf4
|
UTSW |
4 |
62,332,777 (GRCm39) |
splice site |
probably benign |
|
|
R2183:Prpf4
|
UTSW |
4 |
62,330,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5566:Prpf4
|
UTSW |
4 |
62,334,206 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6456:Prpf4
|
UTSW |
4 |
62,332,869 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6629:Prpf4
|
UTSW |
4 |
62,336,097 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7491:Prpf4
|
UTSW |
4 |
62,336,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8199:Prpf4
|
UTSW |
4 |
62,340,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Prpf4
|
UTSW |
4 |
62,333,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8855:Prpf4
|
UTSW |
4 |
62,334,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9374:Prpf4
|
UTSW |
4 |
62,336,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9659:Prpf4
|
UTSW |
4 |
62,334,296 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation