Incidental Mutation 'IGL02547:Prpf31'
| ID |
297860 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf31
|
| Ensembl Gene |
ENSMUSG00000008373 |
| Gene Name |
pre-mRNA processing factor 31 |
| Synonyms |
PRP31, 1500019O16Rik, 2810404O06Rik, RP11 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02547
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3632984-3645484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3633898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 78
(S78P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008517]
[ENSMUST00000108636]
[ENSMUST00000108641]
[ENSMUST00000125782]
[ENSMUST00000179769]
[ENSMUST00000206370]
[ENSMUST00000205596]
[ENSMUST00000155592]
[ENSMUST00000153143]
|
| AlphaFold |
Q8CCF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008517
AA Change: S78P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: S78P
| 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 benign
Transcript: ENSMUST00000058880
|
| SMART Domains |
Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108636
AA Change: S78P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: S78P
| 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: ENSMUST00000108641
|
| SMART Domains |
Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143231
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148641
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179769
AA Change: S78P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: S78P
| 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 |
noncoding transcript
Transcript: ENSMUST00000156194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155592
|
| SMART Domains |
Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153143
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,187,479 (GRCm39) |
L1631H |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,580,274 (GRCm39) |
|
probably benign |
Het |
| Atp5po |
A |
T |
16: 91,725,849 (GRCm39) |
Y48N |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,886,640 (GRCm39) |
M656R |
probably benign |
Het |
| Camkk1 |
A |
G |
11: 72,929,259 (GRCm39) |
R455G |
probably benign |
Het |
| Casr |
A |
T |
16: 36,336,036 (GRCm39) |
M91K |
probably benign |
Het |
| Ccdc28a |
A |
T |
10: 18,089,894 (GRCm39) |
V124D |
possibly damaging |
Het |
| Ccnh |
T |
C |
13: 85,350,623 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
G |
T |
9: 21,051,262 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,950 (GRCm39) |
D868G |
probably damaging |
Het |
| Cstdc3 |
A |
T |
16: 36,132,888 (GRCm39) |
|
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,919,229 (GRCm39) |
R351G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,091 (GRCm39) |
I545T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,787,478 (GRCm39) |
M798V |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,556,261 (GRCm39) |
Q200L |
probably damaging |
Het |
| Ica1 |
T |
C |
6: 8,670,691 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
A |
9: 54,499,679 (GRCm39) |
V31D |
probably benign |
Het |
| Il3ra |
A |
T |
14: 14,351,970 (GRCm38) |
T247S |
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,126,945 (GRCm39) |
C497R |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,834,182 (GRCm39) |
Y166H |
probably damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,909,941 (GRCm39) |
D98G |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,561,650 (GRCm39) |
R29G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,078,742 (GRCm39) |
T142S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,381,082 (GRCm39) |
T570I |
probably benign |
Het |
| Nr5a2 |
T |
A |
1: 136,868,665 (GRCm39) |
M196L |
probably benign |
Het |
| Nrp1 |
C |
A |
8: 129,219,512 (GRCm39) |
F643L |
probably benign |
Het |
| Or52ad1 |
A |
G |
7: 102,995,451 (GRCm39) |
F228S |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,331,973 (GRCm39) |
I16T |
probably benign |
Het |
| Or5a3 |
A |
T |
19: 12,399,675 (GRCm39) |
M1L |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,372 (GRCm39) |
F168S |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,925,680 (GRCm39) |
W446* |
probably null |
Het |
| Pced1a |
T |
C |
2: 130,261,627 (GRCm39) |
D342G |
possibly damaging |
Het |
| Pira13 |
T |
C |
7: 3,824,660 (GRCm39) |
D573G |
probably damaging |
Het |
| Prkcd |
C |
A |
14: 30,321,426 (GRCm39) |
W555L |
probably damaging |
Het |
| Psg27 |
T |
C |
7: 18,294,553 (GRCm39) |
T285A |
probably benign |
Het |
| Retreg3 |
A |
T |
11: 100,997,204 (GRCm39) |
L92* |
probably null |
Het |
| Rmdn1 |
A |
G |
4: 19,605,501 (GRCm39) |
K282E |
possibly damaging |
Het |
| Septin8 |
G |
T |
11: 53,428,092 (GRCm39) |
R302L |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,802 (GRCm39) |
I192V |
probably damaging |
Het |
| Sgce |
T |
C |
6: 4,711,301 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,936,116 (GRCm39) |
L323Q |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,785,743 (GRCm39) |
|
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 137,850,100 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,559,730 (GRCm39) |
V21230A |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 133,836,895 (GRCm39) |
D41A |
possibly damaging |
Het |
| Vps13c |
T |
G |
9: 67,815,301 (GRCm39) |
I979S |
possibly damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,857,531 (GRCm39) |
H683Q |
probably benign |
Het |
| Zfp1007 |
C |
T |
5: 109,826,628 (GRCm39) |
|
probably null |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,846 (GRCm39) |
|
probably null |
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 |
|
IGL02979:Prpf31
|
APN |
7 |
3,633,598 (GRCm39) |
unclassified |
probably benign |
|
|
R0024:Prpf31
|
UTSW |
7 |
3,639,658 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation