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 |
83055522-83072355 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83070673 bp (GRCm38)
|
| 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: 127,063,301 |
V964A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,660,653 |
V4197E |
probably damaging |
Het |
| C8b |
T |
A |
4: 104,801,334 |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,312,667 |
D616G |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,836,813 |
K2E |
unknown |
Het |
| Chek1 |
C |
A |
9: 36,722,599 |
|
probably null |
Het |
| Chst11 |
T |
G |
10: 83,191,805 |
|
probably benign |
Het |
| Dhx29 |
A |
G |
13: 112,966,635 |
|
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,570,983 |
S1049P |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,333,680 |
|
probably benign |
Het |
| Fxr2 |
C |
A |
11: 69,640,250 |
Q51K |
probably benign |
Het |
| Kpna7 |
T |
A |
5: 145,007,246 |
I50F |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,702,299 |
R65G |
possibly damaging |
Het |
| N4bp1 |
G |
T |
8: 86,861,802 |
D169E |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,557,625 |
I134V |
probably benign |
Het |
| Polr1b |
T |
C |
2: 129,118,100 |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,583,770 |
|
probably null |
Het |
| Ubr4 |
C |
T |
4: 139,421,245 |
T1680I |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,962,282 |
N375D |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,322,377 |
|
probably benign |
Het |
| Zfp422 |
G |
A |
6: 116,626,505 |
Q178* |
probably null |
Het |
| Zfp938 |
T |
A |
10: 82,227,521 |
|
probably benign |
Het |
|
| Other mutations in Plrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00824:Plrg1
|
APN |
3 |
83068335 |
missense |
probably damaging |
1.00 |
|
IGL00948:Plrg1
|
APN |
3 |
83068119 |
missense |
probably damaging |
1.00 |
|
IGL02550:Plrg1
|
APN |
3 |
83061123 |
critical splice donor site |
probably null |
|
|
R0743:Plrg1
|
UTSW |
3 |
83059917 |
missense |
probably benign |
0.11 |
|
R1624:Plrg1
|
UTSW |
3 |
83067994 |
splice site |
probably benign |
|
|
R1624:Plrg1
|
UTSW |
3 |
83069744 |
missense |
probably damaging |
1.00 |
|
R1630:Plrg1
|
UTSW |
3 |
83058763 |
missense |
probably benign |
0.00 |
|
R1876:Plrg1
|
UTSW |
3 |
83069068 |
splice site |
probably benign |
|
|
R2383:Plrg1
|
UTSW |
3 |
83065948 |
missense |
probably damaging |
1.00 |
|
R2892:Plrg1
|
UTSW |
3 |
83071240 |
missense |
probably damaging |
1.00 |
|
R3406:Plrg1
|
UTSW |
3 |
83071219 |
missense |
probably damaging |
1.00 |
|
R5114:Plrg1
|
UTSW |
3 |
83071251 |
missense |
probably benign |
0.13 |
|
R5922:Plrg1
|
UTSW |
3 |
83056848 |
missense |
possibly damaging |
0.77 |
|
R6333:Plrg1
|
UTSW |
3 |
83056795 |
missense |
probably damaging |
1.00 |
|
R7127:Plrg1
|
UTSW |
3 |
83059915 |
missense |
probably damaging |
1.00 |
|
R7530:Plrg1
|
UTSW |
3 |
83058682 |
missense |
probably damaging |
1.00 |
|
R7814:Plrg1
|
UTSW |
3 |
83056837 |
missense |
probably damaging |
1.00 |
|
R8123:Plrg1
|
UTSW |
3 |
83065930 |
missense |
probably benign |
0.16 |
|
R8131:Plrg1
|
UTSW |
3 |
83069774 |
missense |
probably damaging |
1.00 |
|
R9332:Plrg1
|
UTSW |
3 |
83069001 |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2012-12-06 |
Incidental Mutation