Incidental Mutation 'IGL00659:Plrg1'
ID |
13063 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plrg1
|
Ensembl Gene |
ENSMUSG00000027998 |
Gene Name |
pleiotropic regulator 1 |
Synonyms |
Tango4 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00659
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
82962845-82979598 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 82977980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 400
(S400T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029628]
[ENSMUST00000122128]
[ENSMUST00000150268]
|
AlphaFold |
Q922V4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029628
|
SMART Domains |
Protein: ENSMUSP00000029628 Gene: ENSMUSG00000027998
Domain | Start | End | E-Value | Type |
WD40
|
192 |
231 |
1.92e-10 |
SMART |
WD40
|
234 |
273 |
1.68e-6 |
SMART |
WD40
|
276 |
315 |
1.96e-7 |
SMART |
WD40
|
318 |
357 |
5.95e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122128
AA Change: S400T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113614 Gene: ENSMUSG00000027998 AA Change: S400T
Domain | Start | End | E-Value | Type |
WD40
|
183 |
222 |
1.92e-10 |
SMART |
WD40
|
225 |
264 |
1.68e-6 |
SMART |
WD40
|
267 |
306 |
1.96e-7 |
SMART |
WD40
|
309 |
348 |
5.95e-7 |
SMART |
WD40
|
351 |
389 |
1.12e-2 |
SMART |
WD40
|
392 |
430 |
5.47e-6 |
SMART |
WD40
|
442 |
480 |
5.97e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135813
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150268
AA Change: S409T
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000114968 Gene: ENSMUSG00000027998 AA Change: S409T
Domain | Start | End | E-Value | Type |
WD40
|
192 |
231 |
1.92e-10 |
SMART |
WD40
|
234 |
273 |
1.68e-6 |
SMART |
WD40
|
276 |
315 |
1.96e-7 |
SMART |
WD40
|
318 |
357 |
5.95e-7 |
SMART |
WD40
|
360 |
398 |
1.12e-2 |
SMART |
WD40
|
401 |
439 |
5.47e-6 |
SMART |
WD40
|
451 |
489 |
5.97e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151915
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality by E1.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap4e1 |
T |
C |
2: 126,905,221 (GRCm39) |
V964A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,967,648 (GRCm39) |
V4197E |
probably damaging |
Het |
C8b |
T |
A |
4: 104,658,531 (GRCm39) |
|
probably benign |
Het |
Cdh13 |
A |
G |
8: 120,039,406 (GRCm39) |
D616G |
probably damaging |
Het |
Cfi |
A |
G |
3: 129,630,462 (GRCm39) |
K2E |
unknown |
Het |
Chek1 |
C |
A |
9: 36,633,895 (GRCm39) |
|
probably null |
Het |
Chst11 |
T |
G |
10: 83,027,639 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,103,169 (GRCm39) |
|
probably benign |
Het |
Erbb3 |
A |
G |
10: 128,406,852 (GRCm39) |
S1049P |
probably damaging |
Het |
Fkbp15 |
T |
C |
4: 62,251,917 (GRCm39) |
|
probably benign |
Het |
Fxr2 |
C |
A |
11: 69,531,076 (GRCm39) |
Q51K |
probably benign |
Het |
Kpna7 |
T |
A |
5: 144,944,056 (GRCm39) |
I50F |
probably damaging |
Het |
Mdm2 |
T |
C |
10: 117,538,204 (GRCm39) |
R65G |
possibly damaging |
Het |
N4bp1 |
G |
T |
8: 87,588,430 (GRCm39) |
D169E |
probably damaging |
Het |
Nlrp9a |
A |
G |
7: 26,257,050 (GRCm39) |
I134V |
probably benign |
Het |
Polr1b |
T |
C |
2: 128,960,020 (GRCm39) |
|
probably null |
Het |
Sec23b |
T |
C |
2: 144,425,690 (GRCm39) |
|
probably null |
Het |
Ubr4 |
C |
T |
4: 139,148,556 (GRCm39) |
T1680I |
probably damaging |
Het |
Usp29 |
A |
G |
7: 6,965,281 (GRCm39) |
N375D |
probably benign |
Het |
Wrn |
A |
G |
8: 33,812,405 (GRCm39) |
|
probably benign |
Het |
Zfp422 |
G |
A |
6: 116,603,466 (GRCm39) |
Q178* |
probably null |
Het |
Zfp938 |
T |
A |
10: 82,063,355 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Plrg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00824:Plrg1
|
APN |
3 |
82,975,642 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00948:Plrg1
|
APN |
3 |
82,975,426 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Plrg1
|
APN |
3 |
82,968,430 (GRCm39) |
critical splice donor site |
probably null |
|
R0743:Plrg1
|
UTSW |
3 |
82,967,224 (GRCm39) |
missense |
probably benign |
0.11 |
R1624:Plrg1
|
UTSW |
3 |
82,977,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Plrg1
|
UTSW |
3 |
82,975,301 (GRCm39) |
splice site |
probably benign |
|
R1630:Plrg1
|
UTSW |
3 |
82,966,070 (GRCm39) |
missense |
probably benign |
0.00 |
R1876:Plrg1
|
UTSW |
3 |
82,976,375 (GRCm39) |
splice site |
probably benign |
|
R2383:Plrg1
|
UTSW |
3 |
82,973,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R2892:Plrg1
|
UTSW |
3 |
82,978,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R3406:Plrg1
|
UTSW |
3 |
82,978,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R5114:Plrg1
|
UTSW |
3 |
82,978,558 (GRCm39) |
missense |
probably benign |
0.13 |
R5922:Plrg1
|
UTSW |
3 |
82,964,155 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6333:Plrg1
|
UTSW |
3 |
82,964,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R7127:Plrg1
|
UTSW |
3 |
82,967,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R7530:Plrg1
|
UTSW |
3 |
82,965,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R7814:Plrg1
|
UTSW |
3 |
82,964,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R8123:Plrg1
|
UTSW |
3 |
82,973,237 (GRCm39) |
missense |
probably benign |
0.16 |
R8131:Plrg1
|
UTSW |
3 |
82,977,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Plrg1
|
UTSW |
3 |
82,976,308 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Posted On |
2012-12-06 |