Incidental Mutation 'IGL02653:Prpf19'
| ID |
302255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf19
|
| Ensembl Gene |
ENSMUSG00000024735 |
| Gene Name |
pre-mRNA processing factor 19 |
| Synonyms |
D19Wsu55e, PSO4, Snev, Prp19 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10872595-10886923 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 10880328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025642]
[ENSMUST00000179297]
|
| AlphaFold |
Q99KP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025642
|
| SMART Domains |
Protein: ENSMUSP00000025642
Gene: ENSMUSG00000024735
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
2 |
68 |
3.65e-29 |
SMART |
|
Pfam:Prp19
|
94 |
154 |
1.5e-25 |
PFAM |
|
WD40
|
225 |
269 |
4.62e-1 |
SMART |
|
WD40
|
272 |
311 |
6.32e-11 |
SMART |
|
WD40
|
314 |
353 |
1.31e-3 |
SMART |
|
WD40
|
356 |
397 |
2.65e-4 |
SMART |
|
WD40
|
400 |
439 |
7.79e-11 |
SMART |
|
WD40
|
442 |
482 |
5.92e1 |
SMART |
|
WD40
|
483 |
522 |
4.48e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178868
|
| SMART Domains |
Protein: ENSMUSP00000137435
Gene: ENSMUSG00000024735
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prp19
|
1 |
50 |
7.9e-23 |
PFAM |
|
WD40
|
121 |
165 |
4.62e-1 |
SMART |
|
WD40
|
168 |
207 |
6.32e-11 |
SMART |
|
WD40
|
210 |
249 |
1.31e-3 |
SMART |
|
WD40
|
252 |
293 |
2.65e-4 |
SMART |
|
WD40
|
296 |
335 |
7.79e-11 |
SMART |
|
WD40
|
338 |
378 |
5.92e1 |
SMART |
|
WD40
|
379 |
418 |
4.48e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179297
|
| SMART Domains |
Protein: ENSMUSP00000136858
Gene: ENSMUSG00000024735
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
2 |
68 |
2.43e-25 |
SMART |
|
Pfam:Prp19
|
95 |
153 |
1.3e-26 |
PFAM |
|
WD40
|
225 |
269 |
4.62e-1 |
SMART |
|
WD40
|
272 |
311 |
6.32e-11 |
SMART |
|
WD40
|
314 |
353 |
1.31e-3 |
SMART |
|
WD40
|
356 |
397 |
2.65e-4 |
SMART |
|
WD40
|
400 |
439 |
7.79e-11 |
SMART |
|
WD40
|
442 |
482 |
5.92e1 |
SMART |
|
WD40
|
483 |
522 |
4.48e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191552
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele die prior to implantation and have defective cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,765,191 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,392,438 (GRCm39) |
H361L |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,185,583 (GRCm39) |
N3S |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,078,973 (GRCm39) |
I182F |
possibly damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,597 (GRCm39) |
D385G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,760 (GRCm39) |
D496E |
probably benign |
Het |
| Cyp3a25 |
G |
T |
5: 145,939,920 (GRCm39) |
S29Y |
possibly damaging |
Het |
| Dglucy |
G |
A |
12: 100,837,690 (GRCm39) |
G611D |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,022,848 (GRCm39) |
K622E |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,346,877 (GRCm39) |
I1071L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,209,777 (GRCm39) |
K1035E |
probably benign |
Het |
| Frem1 |
T |
G |
4: 82,877,571 (GRCm39) |
E1335D |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,340 (GRCm39) |
|
noncoding transcript |
Het |
| Ikbke |
T |
A |
1: 131,199,572 (GRCm39) |
Q283L |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,622,141 (GRCm39) |
I358F |
probably benign |
Het |
| Lnpk |
A |
G |
2: 74,378,392 (GRCm39) |
V123A |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,357 (GRCm39) |
K130R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,389,526 (GRCm39) |
|
probably null |
Het |
| Npy6r |
T |
C |
18: 44,409,694 (GRCm39) |
*372Q |
probably null |
Het |
| Polr3d |
T |
C |
14: 70,677,557 (GRCm39) |
D273G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,892 (GRCm39) |
V477A |
probably benign |
Het |
| Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,862 (GRCm39) |
T676A |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,229 (GRCm39) |
I242N |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,531 (GRCm39) |
S1738R |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,029,261 (GRCm39) |
P348Q |
probably benign |
Het |
| Tbc1d7 |
T |
C |
13: 43,318,874 (GRCm39) |
I88V |
probably benign |
Het |
| Tnks2 |
T |
C |
19: 36,849,851 (GRCm39) |
S220P |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,141,760 (GRCm39) |
S585R |
probably damaging |
Het |
| Trpm2 |
T |
G |
10: 77,748,503 (GRCm39) |
E1389A |
probably benign |
Het |
| Tspear |
T |
A |
10: 77,542,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,500 (GRCm39) |
I221T |
probably damaging |
Het |
| Vmn1r204 |
A |
C |
13: 22,740,800 (GRCm39) |
I144L |
probably benign |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,324 (GRCm39) |
I820N |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,214,646 (GRCm39) |
|
probably benign |
Het |
| Wnt1 |
G |
A |
15: 98,690,336 (GRCm39) |
G222R |
probably damaging |
Het |
|
| Other mutations in Prpf19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Prpf19
|
APN |
19 |
10,877,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01395:Prpf19
|
APN |
19 |
10,878,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02111:Prpf19
|
APN |
19 |
10,882,458 (GRCm39) |
missense |
probably benign |
|
|
IGL02163:Prpf19
|
APN |
19 |
10,879,800 (GRCm39) |
missense |
probably benign |
0.07 |
|
bojan
|
UTSW |
19 |
10,875,154 (GRCm39) |
intron |
probably benign |
|
|
R0179:Prpf19
|
UTSW |
19 |
10,875,172 (GRCm39) |
splice site |
probably benign |
|
|
R1503:Prpf19
|
UTSW |
19 |
10,878,386 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1856:Prpf19
|
UTSW |
19 |
10,879,780 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2229:Prpf19
|
UTSW |
19 |
10,874,962 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4755:Prpf19
|
UTSW |
19 |
10,875,154 (GRCm39) |
intron |
probably benign |
|
|
R4882:Prpf19
|
UTSW |
19 |
10,876,323 (GRCm39) |
intron |
probably benign |
|
|
R4972:Prpf19
|
UTSW |
19 |
10,876,709 (GRCm39) |
intron |
probably benign |
|
|
R5110:Prpf19
|
UTSW |
19 |
10,876,651 (GRCm39) |
splice site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation