Incidental Mutation 'R5946:Pgbd5'
| ID |
472179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgbd5
|
| Ensembl Gene |
ENSMUSG00000050751 |
| Gene Name |
piggyBac transposable element derived 5 |
| Synonyms |
2900019M05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5946 (G1)
|
| Quality Score |
197 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
125095788-125161230 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125101056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 400
(M400K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052580]
[ENSMUST00000136892]
[ENSMUST00000140012]
[ENSMUST00000172566]
|
| AlphaFold |
D3YZI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052580
AA Change: M286K
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751
AA Change: M286K
| 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 |
noncoding transcript
Transcript: ENSMUST00000128312
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136892
AA Change: M286K
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123265
Gene: ENSMUSG00000050751
AA Change: M286K
| 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 |
possibly damaging
Transcript: ENSMUST00000140012
AA Change: M400K
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: M400K
| 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 |
noncoding transcript
Transcript: ENSMUST00000140126
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172566
AA Change: M309K
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751
AA Change: M309K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DDE_Tnp_1_7
|
29 |
395 |
2e-86 |
PFAM |
|
low complexity region
|
415 |
426 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,571,678 (GRCm39) |
F1137S |
probably damaging |
Het |
| Actr6 |
G |
T |
10: 89,564,054 (GRCm39) |
Q73K |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,225,265 (GRCm39) |
G358D |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,508,084 (GRCm39) |
V94A |
probably damaging |
Het |
| Arpc3 |
A |
G |
5: 122,541,459 (GRCm39) |
Y57C |
probably damaging |
Het |
| Asb2 |
A |
G |
12: 103,287,814 (GRCm39) |
Y630H |
probably benign |
Het |
| Atp1a1 |
A |
T |
3: 101,497,090 (GRCm39) |
N405K |
probably benign |
Het |
| C6 |
G |
T |
15: 4,837,996 (GRCm39) |
D869Y |
possibly damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,168 (GRCm39) |
Y137C |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,131 (GRCm39) |
E179V |
probably damaging |
Het |
| Chgb |
T |
A |
2: 132,634,516 (GRCm39) |
Y153N |
probably benign |
Het |
| Cit |
T |
A |
5: 116,135,593 (GRCm39) |
L1831Q |
probably damaging |
Het |
| Cpne8 |
C |
A |
15: 90,373,191 (GRCm39) |
*578L |
probably null |
Het |
| Cspg5 |
A |
G |
9: 110,080,151 (GRCm39) |
T440A |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,598,467 (GRCm39) |
V1393G |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,199,575 (GRCm39) |
D37G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,213,273 (GRCm39) |
I1063M |
probably benign |
Het |
| Efs |
T |
G |
14: 55,156,951 (GRCm39) |
|
probably null |
Het |
| Gpatch1 |
A |
G |
7: 34,991,257 (GRCm39) |
S596P |
probably damaging |
Het |
| Hbs1l |
C |
A |
10: 21,217,655 (GRCm39) |
H190Q |
probably benign |
Het |
| Ighm |
A |
G |
12: 113,386,329 (GRCm39) |
V7A |
unknown |
Het |
| Ivd |
A |
T |
2: 118,707,370 (GRCm39) |
I295F |
possibly damaging |
Het |
| Kcnq5 |
A |
C |
1: 21,575,931 (GRCm39) |
S258A |
probably damaging |
Het |
| Mad1l1 |
G |
T |
5: 140,247,334 (GRCm39) |
P331Q |
probably damaging |
Het |
| Mcf2l |
G |
T |
8: 13,063,922 (GRCm39) |
G1045C |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,558,701 (GRCm39) |
I233N |
probably damaging |
Het |
| Mmp13 |
T |
C |
9: 7,276,580 (GRCm39) |
L225P |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,371,644 (GRCm39) |
C2615Y |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,463,315 (GRCm39) |
F516L |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,851 (GRCm39) |
S1347R |
probably damaging |
Het |
| Ogn |
A |
G |
13: 49,771,761 (GRCm39) |
N207S |
probably benign |
Het |
| Or2h15 |
C |
A |
17: 38,441,598 (GRCm39) |
A162S |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,658,330 (GRCm39) |
L300Q |
probably damaging |
Het |
| Pcdha2 |
G |
T |
18: 37,074,159 (GRCm39) |
V597L |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,217,897 (GRCm39) |
Y2126F |
possibly damaging |
Het |
| Pklr |
A |
T |
3: 89,043,503 (GRCm39) |
E5V |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,135,411 (GRCm39) |
D94E |
probably benign |
Het |
| Ppan |
C |
T |
9: 20,800,969 (GRCm39) |
Q111* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,143,926 (GRCm39) |
N330S |
probably benign |
Het |
| Prl4a1 |
T |
A |
13: 28,202,499 (GRCm39) |
W25R |
probably damaging |
Het |
| Rars2 |
T |
A |
4: 34,656,855 (GRCm39) |
H501Q |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,741,839 (GRCm39) |
D2114G |
probably damaging |
Het |
| Serinc2 |
G |
T |
4: 130,149,314 (GRCm39) |
T351K |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,587,881 (GRCm39) |
F358L |
probably damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,186,427 (GRCm39) |
V905G |
probably damaging |
Het |
| Tekt3 |
G |
C |
11: 62,985,573 (GRCm39) |
A460P |
probably damaging |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Tmc5 |
A |
T |
7: 118,269,948 (GRCm39) |
E899D |
probably damaging |
Het |
| Tmem268 |
C |
T |
4: 63,486,746 (GRCm39) |
P90S |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,966,717 (GRCm39) |
M55V |
probably benign |
Het |
| Trip10 |
T |
G |
17: 57,557,963 (GRCm39) |
V50G |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,911,942 (GRCm39) |
C990* |
probably null |
Het |
| Uts2 |
A |
G |
4: 151,083,506 (GRCm39) |
D39G |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,964,560 (GRCm39) |
C49* |
probably null |
Het |
| Wee2 |
T |
A |
6: 40,440,146 (GRCm39) |
N431K |
probably null |
Het |
| Yeats2 |
C |
A |
16: 20,026,513 (GRCm39) |
Y796* |
probably null |
Het |
| Zfp592 |
G |
A |
7: 80,687,645 (GRCm39) |
G890D |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
R1609:Pgbd5
|
UTSW |
8 |
125,160,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GATGATGAGACCAAGCCACC -3'
(R):5'- ATGGCCTCAGTGACCTTCAG -3'
Sequencing Primer
(F):5'- GCTAAGAGCTTCGTGCAGC -3'
(R):5'- AAAGGCCTCAGCAGCTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation