Incidental Mutation 'R0024:Prpf31'
| ID |
177906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf31
|
| Ensembl Gene |
ENSMUSG00000008373 |
| Gene Name |
pre-mRNA processing factor 31 |
| Synonyms |
PRP31, 1500019O16Rik, 2810404O06Rik, RP11 |
| MMRRC Submission |
038319-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0024 (G1)
|
| Quality Score |
72 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3632984-3645484 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 3639658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008517]
[ENSMUST00000108636]
[ENSMUST00000108636]
[ENSMUST00000125782]
[ENSMUST00000179769]
|
| AlphaFold |
Q8CCF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000008517
|
| SMART Domains |
Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
38 |
N/A |
INTRINSIC |
|
NOSIC
|
92 |
144 |
2.58e-22 |
SMART |
|
low complexity region
|
287 |
298 |
N/A |
INTRINSIC |
|
Pfam:Prp31_C
|
337 |
465 |
1.6e-48 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108636
|
| SMART Domains |
Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
38 |
N/A |
INTRINSIC |
|
NOSIC
|
92 |
144 |
2.58e-22 |
SMART |
|
Pfam:Nop
|
186 |
328 |
4.9e-46 |
PFAM |
|
Pfam:Prp31_C
|
330 |
459 |
4.1e-50 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108636
|
| SMART Domains |
Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
38 |
N/A |
INTRINSIC |
|
NOSIC
|
92 |
144 |
2.58e-22 |
SMART |
|
Pfam:Nop
|
186 |
328 |
4.9e-46 |
PFAM |
|
Pfam:Prp31_C
|
330 |
459 |
4.1e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148641
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179769
|
| SMART Domains |
Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
38 |
N/A |
INTRINSIC |
|
NOSIC
|
92 |
144 |
2.58e-22 |
SMART |
|
Pfam:Nop
|
186 |
328 |
4.9e-46 |
PFAM |
|
Pfam:Prp31_C
|
330 |
459 |
4.1e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,032,608 (GRCm39) |
D209V |
probably damaging |
Het |
| Abtb3 |
A |
G |
10: 85,223,311 (GRCm39) |
D40G |
unknown |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,753,553 (GRCm39) |
R154H |
possibly damaging |
Het |
| Emid1 |
A |
T |
11: 5,093,869 (GRCm39) |
W93R |
probably damaging |
Het |
| Grid2ip |
T |
A |
5: 143,376,796 (GRCm39) |
S947T |
probably damaging |
Het |
| Gstt4 |
T |
A |
10: 75,653,038 (GRCm39) |
M175L |
possibly damaging |
Het |
| Hectd4 |
C |
T |
5: 121,446,639 (GRCm39) |
T242I |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,987,722 (GRCm39) |
I750V |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
| Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
| Myof |
G |
T |
19: 37,904,188 (GRCm39) |
T4N |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,448,194 (GRCm39) |
M306T |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,834,421 (GRCm39) |
Q77R |
probably benign |
Het |
| Picalm |
T |
C |
7: 89,779,912 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,581,568 (GRCm39) |
L141P |
probably damaging |
Het |
| Rgs5 |
T |
A |
1: 169,504,461 (GRCm39) |
V37D |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
| Ssh2 |
A |
T |
11: 77,345,792 (GRCm39) |
Q1259L |
possibly damaging |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
Het |
|
| Other mutations in Prpf31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02452:Prpf31
|
APN |
7 |
3,637,185 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02537:Prpf31
|
APN |
7 |
3,641,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Prpf31
|
APN |
7 |
3,633,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02979:Prpf31
|
APN |
7 |
3,633,598 (GRCm39) |
unclassified |
probably benign |
|
|
R0024:Prpf31
|
UTSW |
7 |
3,639,658 (GRCm39) |
splice site |
probably null |
|
|
R0026:Prpf31
|
UTSW |
7 |
3,642,667 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0026:Prpf31
|
UTSW |
7 |
3,642,667 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1523:Prpf31
|
UTSW |
7 |
3,643,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5078:Prpf31
|
UTSW |
7 |
3,637,702 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5243:Prpf31
|
UTSW |
7 |
3,641,753 (GRCm39) |
nonsense |
probably null |
|
|
R5473:Prpf31
|
UTSW |
7 |
3,642,824 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6025:Prpf31
|
UTSW |
7 |
3,642,668 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6115:Prpf31
|
UTSW |
7 |
3,642,705 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7330:Prpf31
|
UTSW |
7 |
3,642,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7469:Prpf31
|
UTSW |
7 |
3,636,392 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7869:Prpf31
|
UTSW |
7 |
3,633,859 (GRCm39) |
missense |
probably benign |
|
|
R8293:Prpf31
|
UTSW |
7 |
3,643,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8518:Prpf31
|
UTSW |
7 |
3,635,742 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGCCACCACTTGGCAATAATAG -3'
(R):5'- TCAGTAGGGGTTGCAGACAGACAC -3'
Sequencing Primer
(F):5'- TAATAGTTGGGTGGCTGGAAAC -3'
(R):5'- CACATCTGTCTGCTAGTCAGAAGAG -3'
|
| Posted On |
2014-04-30 |
Incidental Mutation