Incidental Mutation 'R4285:Plag1'
| ID |
322019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plag1
|
| Ensembl Gene |
ENSMUSG00000003282 |
| Gene Name |
pleiomorphic adenoma gene 1 |
| Synonyms |
|
| MMRRC Submission |
041080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R4285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
3900996-3938423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3905654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 12
(V12A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003369]
[ENSMUST00000137439]
[ENSMUST00000151543]
|
| AlphaFold |
Q9QYE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003369
AA Change: V12A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000003369
Gene: ENSMUSG00000003282
AA Change: V12A
| 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
|
| Meta Mutation Damage Score |
0.0596 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| 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 |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,994,203 (GRCm39) |
C5162* |
probably null |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,770,654 (GRCm39) |
K39E |
possibly damaging |
Het |
| Coq6 |
C |
T |
12: 84,417,178 (GRCm39) |
|
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,041,282 (GRCm39) |
E1316K |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,510,309 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
A |
2: 165,566,700 (GRCm39) |
N250K |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,320 (GRCm39) |
I738V |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,614,969 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,852,247 (GRCm39) |
D238E |
probably damaging |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Kctd19 |
G |
A |
8: 106,109,581 (GRCm39) |
|
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,309,347 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,110,298 (GRCm39) |
G1126W |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Man2a2 |
T |
C |
7: 80,018,367 (GRCm39) |
D141G |
probably damaging |
Het |
| Map2k1 |
C |
A |
9: 64,119,925 (GRCm39) |
V127L |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mxd3 |
A |
G |
13: 55,477,167 (GRCm39) |
S31P |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,847,920 (GRCm39) |
E1053K |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,733 (GRCm39) |
T104A |
probably benign |
Het |
| Or2m12 |
A |
C |
16: 19,104,714 (GRCm39) |
F260V |
probably damaging |
Het |
| Or51a5 |
G |
T |
7: 102,771,867 (GRCm39) |
Y37* |
probably null |
Het |
| Pex5l |
A |
G |
3: 33,061,336 (GRCm39) |
I171T |
probably damaging |
Het |
| Podn |
C |
A |
4: 107,878,893 (GRCm39) |
V180L |
possibly damaging |
Het |
| Prox2 |
T |
A |
12: 85,141,698 (GRCm39) |
R168S |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,231 (GRCm39) |
Y225C |
probably damaging |
Het |
| Rassf2 |
G |
A |
2: 131,847,314 (GRCm39) |
T97I |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,081,213 (GRCm39) |
V47A |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| St6galnac3 |
A |
C |
3: 152,912,360 (GRCm39) |
V161G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Vat1l |
A |
G |
8: 114,932,523 (GRCm39) |
E23G |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,030 (GRCm39) |
T566A |
probably benign |
Het |
| Wls |
A |
T |
3: 159,639,902 (GRCm39) |
H511L |
probably benign |
Het |
| Zfp644 |
G |
A |
5: 106,782,984 (GRCm39) |
T1130I |
probably damaging |
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 |
|
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 |
|
|
R5755:Plag1
|
UTSW |
4 |
3,904,492 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- AAGGCCTTGGTGCAGTCTTG -3'
(R):5'- TACATTGGACCAGCTGAATCC -3'
Sequencing Primer
(F):5'- GCAGTCTTGGTGTGTGCAC -3'
(R):5'- GGACCAGCTGAATCCATTTTATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation