Incidental Mutation 'R1609:Pgbd5'
| ID |
176678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgbd5
|
| Ensembl Gene |
ENSMUSG00000050751 |
| Gene Name |
piggyBac transposable element derived 5 |
| Synonyms |
2900019M05Rik |
| MMRRC Submission |
039646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1609 (G1)
|
| Quality Score |
113 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125095788-125161230 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125160750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 39
(D39G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052580]
[ENSMUST00000140012]
[ENSMUST00000172566]
|
| AlphaFold |
D3YZI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052580
|
| SMART Domains |
Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DDE_Tnp_1_7
|
6 |
372 |
5e-86 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140012
AA Change: D39G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: D39G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
60 |
N/A |
INTRINSIC |
|
Pfam:DDE_Tnp_1_7
|
120 |
486 |
5.6e-90 |
PFAM |
|
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172566
|
| SMART Domains |
Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DDE_Tnp_1_7
|
29 |
395 |
2e-86 |
PFAM |
|
low complexity region
|
415 |
426 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0770 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.1%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
FUNCTION: The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,039,630 (GRCm39) |
R380C |
possibly damaging |
Het |
| Allc |
A |
T |
12: 28,603,993 (GRCm39) |
D363E |
probably damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| App |
C |
A |
16: 84,876,837 (GRCm39) |
V185L |
probably damaging |
Het |
| Atp5if1 |
T |
C |
4: 132,258,078 (GRCm39) |
D47G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,956,192 (GRCm39) |
Y220N |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,002,877 (GRCm39) |
Q203K |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,992,264 (GRCm39) |
V397A |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,316,547 (GRCm39) |
I1613T |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,577,742 (GRCm39) |
S3020P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,392,126 (GRCm39) |
L3829P |
probably damaging |
Het |
| Fbxw25 |
C |
T |
9: 109,492,578 (GRCm39) |
C53Y |
probably benign |
Het |
| Fndc1 |
G |
T |
17: 7,991,598 (GRCm39) |
H699Q |
unknown |
Het |
| Gnaq |
G |
A |
19: 16,360,618 (GRCm39) |
V314M |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,788,104 (GRCm39) |
T582A |
possibly damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,170 (GRCm39) |
|
probably benign |
Het |
| Med1 |
T |
A |
11: 98,051,996 (GRCm39) |
H456L |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,195,499 (GRCm39) |
|
probably null |
Het |
| Nipbl |
A |
G |
15: 8,396,148 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,688 (GRCm39) |
F27L |
probably benign |
Het |
| Or8k24 |
A |
G |
2: 86,215,838 (GRCm39) |
I308T |
probably benign |
Het |
| Or8k33 |
A |
C |
2: 86,383,949 (GRCm39) |
V173G |
probably damaging |
Het |
| Pnisr |
G |
T |
4: 21,871,440 (GRCm39) |
G387* |
probably null |
Het |
| Pnpla6 |
T |
C |
8: 3,567,135 (GRCm39) |
L61P |
probably damaging |
Het |
| Prkra |
A |
T |
2: 76,463,936 (GRCm39) |
I242N |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,424 (GRCm39) |
S563P |
probably damaging |
Het |
| Rtp3 |
A |
G |
9: 110,815,085 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,023 (GRCm39) |
T301A |
probably damaging |
Het |
| Setmar |
A |
G |
6: 108,053,076 (GRCm39) |
D190G |
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,345,061 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,968,938 (GRCm39) |
K692E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,504 (GRCm39) |
E354G |
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,557 (GRCm39) |
T135A |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,733 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,888 (GRCm39) |
E561G |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,946 (GRCm39) |
K389N |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,719 (GRCm39) |
N379K |
probably damaging |
Het |
|
| Other mutations in Pgbd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01642:Pgbd5
|
APN |
8 |
125,110,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01669:Pgbd5
|
APN |
8 |
125,101,138 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01759:Pgbd5
|
APN |
8 |
125,111,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01762:Pgbd5
|
APN |
8 |
125,097,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Pgbd5
|
APN |
8 |
125,111,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Pgbd5
|
UTSW |
8 |
125,160,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0702:Pgbd5
|
UTSW |
8 |
125,100,994 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0981:Pgbd5
|
UTSW |
8 |
125,111,032 (GRCm39) |
nonsense |
probably null |
|
|
R1259:Pgbd5
|
UTSW |
8 |
125,097,324 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1598:Pgbd5
|
UTSW |
8 |
125,101,026 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1742:Pgbd5
|
UTSW |
8 |
125,107,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Pgbd5
|
UTSW |
8 |
125,100,988 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Pgbd5
|
UTSW |
8 |
125,097,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2169:Pgbd5
|
UTSW |
8 |
125,111,363 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4573:Pgbd5
|
UTSW |
8 |
125,102,966 (GRCm39) |
nonsense |
probably null |
|
|
R4917:Pgbd5
|
UTSW |
8 |
125,097,305 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4918:Pgbd5
|
UTSW |
8 |
125,097,305 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4946:Pgbd5
|
UTSW |
8 |
125,097,324 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5409:Pgbd5
|
UTSW |
8 |
125,098,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Pgbd5
|
UTSW |
8 |
125,111,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Pgbd5
|
UTSW |
8 |
125,101,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6907:Pgbd5
|
UTSW |
8 |
125,107,021 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6986:Pgbd5
|
UTSW |
8 |
125,111,212 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7144:Pgbd5
|
UTSW |
8 |
125,101,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7342:Pgbd5
|
UTSW |
8 |
125,160,709 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7475:Pgbd5
|
UTSW |
8 |
125,160,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8934:Pgbd5
|
UTSW |
8 |
125,110,998 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8960:Pgbd5
|
UTSW |
8 |
125,111,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9238:Pgbd5
|
UTSW |
8 |
125,106,930 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0067:Pgbd5
|
UTSW |
8 |
125,098,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Pgbd5
|
UTSW |
8 |
125,106,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1190:Pgbd5
|
UTSW |
8 |
125,106,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGTCCCTGCACCCCAGTG -3'
(R):5'- TGGGCAGCGGCTGAGTCTCTTC -3'
Sequencing Primer
(F):5'- GTCGATCCTCACCACCG -3'
(R):5'- AGCTCCAAGGCGCATCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation