Incidental Mutation 'IGL00945:Pop5'
| ID |
27458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pop5
|
| Ensembl Gene |
ENSMUSG00000060152 |
| Gene Name |
processing of precursor 5, ribonuclease P/MRP family (S. cerevisiae) |
| Synonyms |
2700077E03Rik, 1500019J17Rik, Rnasep3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL00945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115373505-115379031 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 115378618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040555]
[ENSMUST00000081497]
[ENSMUST00000112096]
[ENSMUST00000112097]
[ENSMUST00000135455]
|
| AlphaFold |
Q9DB28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040555
|
| SMART Domains |
Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
RING
|
225 |
266 |
1.98e-8 |
SMART |
|
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
792 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081497
|
| SMART Domains |
Protein: ENSMUSP00000080215
Gene: ENSMUSG00000060152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_P_Rpp14
|
7 |
115 |
2.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112096
|
| SMART Domains |
Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
RING
|
225 |
266 |
1.98e-8 |
SMART |
|
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112097
|
| SMART Domains |
Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
RING
|
225 |
266 |
1.98e-8 |
SMART |
|
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128954
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135455
|
| SMART Domains |
Protein: ENSMUSP00000118408
Gene: ENSMUSG00000060152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_P_Rpp14
|
7 |
117 |
3.7e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139853
|
| SMART Domains |
Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
|
RING
|
188 |
229 |
1.98e-8 |
SMART |
|
low complexity region
|
342 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
634 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
A |
G |
5: 35,994,364 (GRCm39) |
I101V |
probably damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,110,141 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
C |
13: 98,103,907 (GRCm39) |
L728R |
possibly damaging |
Het |
| Dct |
G |
A |
14: 118,277,916 (GRCm39) |
T218M |
probably damaging |
Het |
| Hcn2 |
C |
T |
10: 79,569,637 (GRCm39) |
R546* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,662,115 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
C |
T |
11: 74,708,192 (GRCm39) |
H464Y |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,238,832 (GRCm39) |
R725Q |
probably null |
Het |
| Nf1 |
T |
C |
11: 79,360,629 (GRCm39) |
F1436L |
probably damaging |
Het |
| Nod1 |
C |
T |
6: 54,921,571 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
A |
T |
10: 129,637,776 (GRCm39) |
V206E |
possibly damaging |
Het |
| Pde5a |
T |
A |
3: 122,629,291 (GRCm39) |
|
probably null |
Het |
| Pja2 |
T |
C |
17: 64,616,391 (GRCm39) |
Y168C |
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,466,549 (GRCm39) |
I170V |
probably benign |
Het |
| Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
| Sema3f |
G |
A |
9: 107,562,721 (GRCm39) |
S420L |
probably benign |
Het |
| Shtn1 |
C |
T |
19: 59,007,384 (GRCm39) |
E289K |
possibly damaging |
Het |
| Smarca1 |
A |
T |
X: 46,947,178 (GRCm39) |
Y526* |
probably null |
Het |
| Sptan1 |
T |
C |
2: 29,890,083 (GRCm39) |
|
probably benign |
Het |
| St7l |
C |
A |
3: 104,833,798 (GRCm39) |
H486Q |
probably damaging |
Het |
| Tcte1 |
C |
A |
17: 45,852,115 (GRCm39) |
F449L |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,866,086 (GRCm39) |
|
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,151,725 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,640,193 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,567,587 (GRCm39) |
D960G |
probably damaging |
Het |
|
| Other mutations in Pop5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0127:Pop5
|
UTSW |
5 |
115,378,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Pop5
|
UTSW |
5 |
115,376,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3744:Pop5
|
UTSW |
5 |
115,378,567 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4408:Pop5
|
UTSW |
5 |
115,378,836 (GRCm39) |
unclassified |
probably benign |
|
|
R5458:Pop5
|
UTSW |
5 |
115,378,496 (GRCm39) |
unclassified |
probably benign |
|
|
R5607:Pop5
|
UTSW |
5 |
115,378,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7169:Pop5
|
UTSW |
5 |
115,378,287 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7608:Pop5
|
UTSW |
5 |
115,375,931 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation