Incidental Mutation 'R5755:Plag1'
| ID |
444990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plag1
|
| Ensembl Gene |
ENSMUSG00000003282 |
| Gene Name |
pleiomorphic adenoma gene 1 |
| Synonyms |
|
| MMRRC Submission |
043202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.839)
|
| Stock # |
R5755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
3900996-3938423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3904492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 233
(K233R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003369]
[ENSMUST00000137439]
[ENSMUST00000151543]
|
| AlphaFold |
Q9QYE0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003369
AA Change: K233R
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003369
Gene: ENSMUSG00000003282
AA Change: K233R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
34 |
56 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
62 |
86 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
92 |
114 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
121 |
143 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
150 |
172 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
185 |
207 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
213 |
236 |
8.94e-3 |
SMART |
|
low complexity region
|
364 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151543
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced male fertility, small seminal vesicles and ventral prostate, reduced litter size (females only), reduced embryonic and postnatal growth, and delayed eyelid opening. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,350 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
| Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
| Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,071,842 (GRCm39) |
M501K |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
| Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
| Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,557 (GRCm39) |
N84I |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
| Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
| Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
| Slc7a10 |
A |
T |
7: 34,898,336 (GRCm39) |
I336F |
probably damaging |
Het |
| Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,725 (GRCm39) |
|
silent |
Het |
| Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
| Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
| Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,821,076 (GRCm39) |
S724R |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,973,511 (GRCm39) |
S379P |
probably benign |
Het |
|
| Other mutations in Plag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Plag1
|
APN |
4 |
3,904,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01775:Plag1
|
APN |
4 |
3,904,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Plag1
|
APN |
4 |
3,903,812 (GRCm39) |
nonsense |
probably null |
|
|
extracted
|
UTSW |
4 |
3,904,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Rehab
|
UTSW |
4 |
3,904,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
scrawny
|
UTSW |
4 |
3,905,463 (GRCm39) |
nonsense |
probably null |
|
|
PIT4378001:Plag1
|
UTSW |
4 |
3,905,492 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0217:Plag1
|
UTSW |
4 |
3,904,379 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0359:Plag1
|
UTSW |
4 |
3,904,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Plag1
|
UTSW |
4 |
3,904,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0892:Plag1
|
UTSW |
4 |
3,904,532 (GRCm39) |
nonsense |
probably null |
|
|
R1541:Plag1
|
UTSW |
4 |
3,904,085 (GRCm39) |
missense |
probably benign |
|
|
R1964:Plag1
|
UTSW |
4 |
3,903,956 (GRCm39) |
missense |
probably benign |
|
|
R2011:Plag1
|
UTSW |
4 |
3,904,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Plag1
|
UTSW |
4 |
3,904,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Plag1
|
UTSW |
4 |
3,904,169 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3982:Plag1
|
UTSW |
4 |
3,904,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4285:Plag1
|
UTSW |
4 |
3,905,654 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5244:Plag1
|
UTSW |
4 |
3,903,887 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5289:Plag1
|
UTSW |
4 |
3,905,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Plag1
|
UTSW |
4 |
3,904,075 (GRCm39) |
missense |
probably benign |
|
|
R5428:Plag1
|
UTSW |
4 |
3,905,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5608:Plag1
|
UTSW |
4 |
3,905,463 (GRCm39) |
nonsense |
probably null |
|
|
R6036:Plag1
|
UTSW |
4 |
3,904,618 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6036:Plag1
|
UTSW |
4 |
3,904,618 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6080:Plag1
|
UTSW |
4 |
3,903,815 (GRCm39) |
missense |
probably benign |
|
|
R6296:Plag1
|
UTSW |
4 |
3,904,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Plag1
|
UTSW |
4 |
3,904,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Plag1
|
UTSW |
4 |
3,904,812 (GRCm39) |
nonsense |
probably null |
|
|
R8435:Plag1
|
UTSW |
4 |
3,905,648 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCTGCATGGACTGAAATGG -3'
(R):5'- AGCACCTGAAATCTCACGCG -3'
Sequencing Primer
(F):5'- CATGGACTGAAATGGAGTGTTATAG -3'
(R):5'- GAAATCTCACGCGGGCAAGTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation