Incidental Mutation 'IGL02163:Prpf19'
| ID |
282543 |
| 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 # |
IGL02163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10872595-10886923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10879800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 307
(S307R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025642]
[ENSMUST00000179297]
|
| AlphaFold |
Q99KP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025642
AA Change: S307R
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025642
Gene: ENSMUSG00000024735
AA Change: S307R
| 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
AA Change: S326R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000136858
Gene: ENSMUSG00000024735
AA Change: S326R
| 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: ENSMUST00000186416
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
T |
C |
15: 37,439,852 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,011,614 (GRCm39) |
V31A |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cap1 |
C |
T |
4: 122,756,209 (GRCm39) |
V396I |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,916,477 (GRCm39) |
V411A |
probably benign |
Het |
| Cyp2w1 |
T |
A |
5: 139,341,920 (GRCm39) |
M111K |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,559,315 (GRCm39) |
V687A |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,523,230 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
A |
G |
3: 85,595,859 (GRCm39) |
F342S |
possibly damaging |
Het |
| Foxred1 |
A |
T |
9: 35,117,192 (GRCm39) |
L313H |
probably damaging |
Het |
| Gm38392 |
G |
A |
3: 88,152,887 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,733,109 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,060,900 (GRCm39) |
M591K |
probably damaging |
Het |
| Ncr1 |
A |
T |
7: 4,344,262 (GRCm39) |
S217C |
possibly damaging |
Het |
| Or10al7 |
T |
C |
17: 38,365,641 (GRCm39) |
H281R |
probably benign |
Het |
| Or1e1 |
T |
A |
11: 73,245,320 (GRCm39) |
V247E |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,679,871 (GRCm39) |
F526L |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,898,223 (GRCm39) |
S955C |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,119 (GRCm39) |
P456S |
possibly damaging |
Het |
| Rgs8 |
C |
A |
1: 153,547,511 (GRCm39) |
T47K |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,246 (GRCm39) |
N1005I |
possibly damaging |
Het |
| Tmc4 |
A |
G |
7: 3,669,824 (GRCm39) |
L20P |
probably damaging |
Het |
| Ttc21a |
C |
T |
9: 119,779,901 (GRCm39) |
Q403* |
probably null |
Het |
| Zbtb43 |
T |
C |
2: 33,343,795 (GRCm39) |
R477G |
possibly 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 |
|
|
IGL02653:Prpf19
|
APN |
19 |
10,880,328 (GRCm39) |
splice site |
probably benign |
|
|
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