Incidental Mutation 'R4408:Pop5'
| ID |
327756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pop5
|
| Ensembl Gene |
ENSMUSG00000060152 |
| Gene Name |
processing of precursor 5, ribonuclease P/MRP family (S. cerevisiae) |
| Synonyms |
2700077E03Rik, 1500019J17Rik, Rnasep3 |
| MMRRC Submission |
041690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R4408 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
115373505-115379031 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 115378836 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
A |
G |
17: 25,599,601 (GRCm39) |
V1588A |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,130,536 (GRCm39) |
M287L |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Fndc5 |
A |
G |
4: 129,036,322 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
C |
A |
2: 103,898,409 (GRCm39) |
A99S |
possibly damaging |
Het |
| Gm27013 |
A |
T |
6: 130,654,728 (GRCm39) |
S245T |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 40,935,872 (GRCm39) |
T125A |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,696,188 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
A |
T |
13: 111,585,498 (GRCm39) |
N149K |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,158,368 (GRCm39) |
|
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,534,000 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,297,513 (GRCm39) |
K3149N |
probably benign |
Het |
| Lrrn3 |
A |
G |
12: 41,504,041 (GRCm39) |
V92A |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,625 (GRCm39) |
I216K |
possibly damaging |
Het |
| Or9s18 |
A |
G |
13: 65,300,514 (GRCm39) |
T159A |
probably benign |
Het |
| Osr2 |
T |
C |
15: 35,300,617 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Ror2 |
A |
G |
13: 53,272,997 (GRCm39) |
C211R |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sgsm2 |
C |
A |
11: 74,742,592 (GRCm39) |
R957L |
probably damaging |
Het |
| Slc16a11 |
A |
G |
11: 70,106,560 (GRCm39) |
|
probably null |
Het |
| Spag17 |
T |
A |
3: 100,010,694 (GRCm39) |
Y2063N |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,353 (GRCm39) |
I142V |
probably benign |
Het |
| Vmn1r235 |
A |
G |
17: 21,481,854 (GRCm39) |
K60E |
probably damaging |
Het |
| Vmn2r33 |
A |
C |
7: 7,554,229 (GRCm39) |
F775V |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,709,440 (GRCm39) |
P1796S |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,378,149 (GRCm39) |
V480I |
probably benign |
Het |
|
| Other mutations in Pop5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Pop5
|
APN |
5 |
115,378,618 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACTGACGAAGGTAAGC -3'
(R):5'- ACCCCTGAGCTAAGCAGTTAC -3'
Sequencing Primer
(F):5'- CAATGCCAGGCCAGCGTAAG -3'
(R):5'- TGAGCTAAGCAGTTACATCCG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation