Incidental Mutation 'IGL00824:Plrg1'
| ID |
13062 |
| 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 # |
IGL00824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
82962845-82979598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82975642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 295
(T295I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029628]
[ENSMUST00000122128]
[ENSMUST00000150268]
|
| AlphaFold |
Q922V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029628
AA Change: T304I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998
AA Change: T304I
| 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: T295I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: T295I
| 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 damaging
Transcript: ENSMUST00000150268
AA Change: T304I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: T304I
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atl1 |
A |
G |
12: 69,979,012 (GRCm39) |
T147A |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,784,675 (GRCm39) |
K277R |
probably benign |
Het |
| Cyp2j5 |
A |
G |
4: 96,552,160 (GRCm39) |
F30L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,532,485 (GRCm39) |
V3134E |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,687,910 (GRCm39) |
V230A |
probably benign |
Het |
| Mgst2 |
C |
T |
3: 51,589,999 (GRCm39) |
P146S |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,264 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,279 (GRCm39) |
L227R |
probably damaging |
Het |
| Osbpl2 |
G |
A |
2: 179,792,060 (GRCm39) |
V255M |
probably benign |
Het |
| Papln |
A |
G |
12: 83,817,210 (GRCm39) |
S27G |
possibly damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,151,408 (GRCm39) |
|
probably null |
Het |
| Spata31e2 |
T |
C |
1: 26,722,670 (GRCm39) |
I837V |
possibly damaging |
Het |
| Sypl1 |
T |
A |
12: 33,015,505 (GRCm39) |
|
probably benign |
Het |
| Tmco3 |
T |
A |
8: 13,342,825 (GRCm39) |
V187E |
probably damaging |
Het |
| Trmt2b |
T |
C |
X: 133,168,154 (GRCm39) |
I47M |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,438 (GRCm39) |
N350K |
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,916,496 (GRCm39) |
L842P |
probably damaging |
Het |
|
| Other mutations in Plrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Plrg1
|
APN |
3 |
82,977,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
Incidental Mutation