Incidental Mutation 'R6978:Pgbd1'
| ID |
542582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgbd1
|
| Ensembl Gene |
ENSMUSG00000055313 |
| Gene Name |
piggyBac transposable element derived 1 |
| Synonyms |
4921509E05Rik |
| MMRRC Submission |
045086-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21605445-21625228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21607432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 254
(L254P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099719]
[ENSMUST00000122872]
[ENSMUST00000145494]
[ENSMUST00000148071]
[ENSMUST00000151743]
|
| AlphaFold |
E9Q492 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099719
AA Change: L254P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097307
Gene: ENSMUSG00000055313
AA Change: L254P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SCAN
|
1 |
65 |
7e-14 |
BLAST |
|
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
|
Pfam:DDE_Tnp_1_7
|
250 |
411 |
1.1e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122872
AA Change: L217P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313
AA Change: L217P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SCAN
|
1 |
65 |
1e-13 |
BLAST |
|
low complexity region
|
155 |
167 |
N/A |
INTRINSIC |
|
Pfam:DDE_Tnp_1_7
|
213 |
374 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145494
AA Change: L254P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118503
Gene: ENSMUSG00000055313
AA Change: L254P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SCAN
|
1 |
65 |
8e-15 |
BLAST |
|
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148071
|
| SMART Domains |
Protein: ENSMUSP00000114882
Gene: ENSMUSG00000055313
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SCAN
|
1 |
65 |
3e-16 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151743
AA Change: L254P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313
AA Change: L254P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SCAN
|
1 |
65 |
7e-14 |
BLAST |
|
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
|
Pfam:DDE_Tnp_1_7
|
250 |
411 |
1.7e-42 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, including human, 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. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
T |
16: 38,266,171 (GRCm39) |
G324S |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,727,015 (GRCm39) |
E140G |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,511,820 (GRCm39) |
Q458K |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 110,554,968 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
G |
T |
10: 79,857,682 (GRCm39) |
V211F |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,738,059 (GRCm39) |
E1750G |
possibly damaging |
Het |
| Cmpk2 |
A |
T |
12: 26,527,018 (GRCm39) |
T336S |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,735,192 (GRCm39) |
|
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,310,107 (GRCm39) |
L272P |
probably damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,903,801 (GRCm39) |
S286T |
probably benign |
Het |
| Cyp4f18 |
T |
G |
8: 72,756,340 (GRCm39) |
S79R |
probably benign |
Het |
| Dio1 |
T |
C |
4: 107,164,030 (GRCm39) |
T96A |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,701,526 (GRCm39) |
I210V |
probably null |
Het |
| Epha4 |
A |
G |
1: 77,354,220 (GRCm39) |
Y841H |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,657,959 (GRCm39) |
D70G |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,244,706 (GRCm39) |
T1680K |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,640 (GRCm39) |
V314A |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,356 (GRCm39) |
P116Q |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,322,343 (GRCm39) |
R1060C |
probably damaging |
Het |
| Mark3 |
G |
A |
12: 111,593,582 (GRCm39) |
V205I |
probably benign |
Het |
| Mchr1 |
T |
C |
15: 81,121,997 (GRCm39) |
L249P |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,250,427 (GRCm39) |
N224S |
possibly damaging |
Het |
| Megf9 |
C |
T |
4: 70,351,766 (GRCm39) |
V452I |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,303,691 (GRCm39) |
R726G |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,789,793 (GRCm39) |
L583Q |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,358,886 (GRCm39) |
C1102R |
probably damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,762,631 (GRCm39) |
T55A |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,061,873 (GRCm39) |
R684Q |
possibly damaging |
Het |
| Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
| Or4f7 |
T |
A |
2: 111,644,155 (GRCm39) |
L305F |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,099,085 (GRCm39) |
R225W |
probably damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,347,063 (GRCm39) |
F10L |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 44,996,272 (GRCm39) |
T726S |
probably benign |
Het |
| Rab21 |
T |
A |
10: 115,134,766 (GRCm39) |
M118L |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,774 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
T |
C |
18: 12,318,804 (GRCm39) |
Y430H |
probably benign |
Het |
| Rpp38 |
A |
G |
2: 3,330,758 (GRCm39) |
L48P |
probably damaging |
Het |
| Sart3 |
A |
T |
5: 113,883,807 (GRCm39) |
I735N |
probably damaging |
Het |
| Slc44a1 |
T |
A |
4: 53,544,671 (GRCm39) |
Y461N |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,295 (GRCm39) |
*485L |
probably null |
Het |
| Speer4a2 |
C |
A |
5: 26,291,454 (GRCm39) |
E117D |
probably damaging |
Het |
| Spink8 |
T |
C |
9: 109,649,725 (GRCm39) |
V69A |
probably benign |
Het |
| Spred2 |
G |
A |
11: 19,948,254 (GRCm39) |
R83Q |
possibly damaging |
Het |
| Tmc1 |
T |
C |
19: 20,781,999 (GRCm39) |
N573S |
probably damaging |
Het |
| Tmem275 |
C |
T |
4: 115,755,560 (GRCm39) |
Q120* |
probably null |
Het |
| Tox4 |
G |
T |
14: 52,524,694 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,839,259 (GRCm39) |
S531G |
probably benign |
Het |
| Vmn2r56 |
C |
T |
7: 12,449,333 (GRCm39) |
V302I |
probably benign |
Het |
| Ypel1 |
C |
T |
16: 16,902,438 (GRCm39) |
A110V |
probably benign |
Het |
| Zfp395 |
G |
A |
14: 65,623,882 (GRCm39) |
R117H |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
| Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pgbd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00568:Pgbd1
|
APN |
13 |
21,607,423 (GRCm39) |
nonsense |
probably null |
|
|
IGL03136:Pgbd1
|
APN |
13 |
21,617,609 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0206:Pgbd1
|
UTSW |
13 |
21,618,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0208:Pgbd1
|
UTSW |
13 |
21,618,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0420:Pgbd1
|
UTSW |
13 |
21,607,336 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0547:Pgbd1
|
UTSW |
13 |
21,607,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Pgbd1
|
UTSW |
13 |
21,618,600 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0854:Pgbd1
|
UTSW |
13 |
21,607,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0891:Pgbd1
|
UTSW |
13 |
21,606,970 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1589:Pgbd1
|
UTSW |
13 |
21,607,462 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1700:Pgbd1
|
UTSW |
13 |
21,618,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1815:Pgbd1
|
UTSW |
13 |
21,607,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2139:Pgbd1
|
UTSW |
13 |
21,607,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3776:Pgbd1
|
UTSW |
13 |
21,612,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3870:Pgbd1
|
UTSW |
13 |
21,618,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3871:Pgbd1
|
UTSW |
13 |
21,618,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4580:Pgbd1
|
UTSW |
13 |
21,612,499 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5644:Pgbd1
|
UTSW |
13 |
21,607,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6480:Pgbd1
|
UTSW |
13 |
21,607,646 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7084:Pgbd1
|
UTSW |
13 |
21,607,300 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8351:Pgbd1
|
UTSW |
13 |
21,607,550 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8451:Pgbd1
|
UTSW |
13 |
21,607,550 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8675:Pgbd1
|
UTSW |
13 |
21,607,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Pgbd1
|
UTSW |
13 |
21,607,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAACCAGGGTCTGATCAGAATC -3'
(R):5'- GCCATGCGTTTTCTGATGAGTC -3'
Sequencing Primer
(F):5'- GATCAGAATCAGAGATTTCCCAATAC -3'
(R):5'- TGATGAGTCAGAGACAGAGGAAGAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation