Incidental Mutation 'IGL02452:Prpf31'
| ID |
293687 |
| 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 # |
IGL02452
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3632984-3645484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3637185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 161
(N161K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008517]
[ENSMUST00000108636]
[ENSMUST00000108641]
[ENSMUST00000125782]
[ENSMUST00000179769]
[ENSMUST00000205596]
[ENSMUST00000206370]
[ENSMUST00000153143]
[ENSMUST00000155592]
|
| AlphaFold |
Q8CCF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008517
AA Change: N161K
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: N161K
| 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 |
possibly damaging
Transcript: ENSMUST00000108636
AA Change: N161K
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: N161K
| 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: ENSMUST00000134047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143231
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148641
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179769
AA Change: N161K
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: N161K
| 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: ENSMUST00000205596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153143
|
| 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 |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
C |
A |
3: 153,647,607 (GRCm39) |
V11F |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,209,620 (GRCm39) |
Y941* |
probably null |
Het |
| Blm |
A |
T |
7: 80,153,125 (GRCm39) |
|
probably null |
Het |
| Blvrb |
T |
C |
7: 27,158,765 (GRCm39) |
V55A |
possibly damaging |
Het |
| Cdh23 |
T |
A |
10: 60,153,721 (GRCm39) |
T2288S |
probably damaging |
Het |
| Csnk1g1 |
T |
A |
9: 65,915,067 (GRCm39) |
M242K |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,676,827 (GRCm39) |
H173L |
probably benign |
Het |
| Cyp2g1 |
T |
A |
7: 26,510,871 (GRCm39) |
S131T |
probably benign |
Het |
| Dusp29 |
G |
A |
14: 21,752,990 (GRCm39) |
T52I |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,758,900 (GRCm39) |
|
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,208,274 (GRCm39) |
S427P |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,699,006 (GRCm39) |
D2424E |
probably benign |
Het |
| Flrt2 |
G |
A |
12: 95,746,257 (GRCm39) |
M198I |
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,292,576 (GRCm39) |
S404R |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,806 (GRCm39) |
C105S |
unknown |
Het |
| Hdlbp |
A |
T |
1: 93,345,233 (GRCm39) |
V714D |
probably damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,816 (GRCm39) |
V25A |
probably benign |
Het |
| Igkv8-27 |
C |
T |
6: 70,148,925 (GRCm39) |
W76* |
probably null |
Het |
| Ikzf1 |
T |
C |
11: 11,698,545 (GRCm39) |
L132P |
probably damaging |
Het |
| Kcna6 |
C |
A |
6: 126,715,443 (GRCm39) |
C482F |
possibly damaging |
Het |
| Lhx9 |
A |
T |
1: 138,769,580 (GRCm39) |
L47Q |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,304,347 (GRCm39) |
D175E |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,815 (GRCm39) |
K451E |
probably damaging |
Het |
| Mcm9 |
C |
T |
10: 53,417,653 (GRCm39) |
V17M |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,222,492 (GRCm39) |
S475R |
probably benign |
Het |
| Mmp24 |
C |
T |
2: 155,657,708 (GRCm39) |
R533C |
probably damaging |
Het |
| Moxd1 |
C |
T |
10: 24,158,650 (GRCm39) |
P435S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,927,670 (GRCm39) |
I497N |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,014,473 (GRCm39) |
V422A |
probably benign |
Het |
| Ndufaf1 |
A |
T |
2: 119,486,907 (GRCm39) |
F260Y |
probably damaging |
Het |
| Nfasc |
C |
T |
1: 132,548,662 (GRCm39) |
|
probably null |
Het |
| Nid1 |
A |
T |
13: 13,683,305 (GRCm39) |
T1128S |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,129,461 (GRCm39) |
E906K |
probably damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,138 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,414,746 (GRCm39) |
P793L |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,726,980 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
T |
G |
2: 181,290,878 (GRCm39) |
N656K |
probably benign |
Het |
| Ptprn |
T |
A |
1: 75,234,813 (GRCm39) |
H258L |
probably benign |
Het |
| Rab19 |
A |
G |
6: 39,366,732 (GRCm39) |
T216A |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,664,335 (GRCm39) |
L1652W |
probably damaging |
Het |
| Six2 |
A |
C |
17: 85,992,806 (GRCm39) |
S232R |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,934,707 (GRCm39) |
V663A |
probably benign |
Het |
| Spag5 |
A |
G |
11: 78,195,449 (GRCm39) |
N252S |
probably benign |
Het |
| Spata31e4 |
A |
T |
13: 50,857,113 (GRCm39) |
H917L |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,655,810 (GRCm39) |
|
probably null |
Het |
| Synj1 |
A |
G |
16: 90,758,253 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
C |
4: 126,218,645 (GRCm39) |
H36R |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,962,403 (GRCm39) |
M1258K |
probably damaging |
Het |
| Txnrd3 |
T |
C |
6: 89,651,777 (GRCm39) |
*502Q |
probably null |
Het |
|
| Other mutations in Prpf31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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