Incidental Mutation 'IGL01561:Pygo1'
| ID |
90846 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pygo1
|
| Ensembl Gene |
ENSMUSG00000034910 |
| Gene Name |
pygopus 1 |
| Synonyms |
2600014C22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
72832927-72859463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72852570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 252
(N252K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038489]
|
| AlphaFold |
Q9D0P5 |
| PDB Structure |
Crystal Structure Analysis of the PHD domain of the Transcription Coactivator Pygophus [X-RAY DIFFRACTION]
Structural analysis of PHD domain of Pygopus complexed with trimethylated histone H3 peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038489
AA Change: N252K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044368
Gene: ENSMUSG00000034910
AA Change: N252K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
27 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
28 |
125 |
6e-28 |
BLAST |
|
PHD
|
340 |
394 |
5.57e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are viable and show no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
G |
A |
11: 5,821,349 (GRCm39) |
D583N |
probably damaging |
Het |
| Aoah |
G |
T |
13: 21,189,264 (GRCm39) |
D496Y |
probably damaging |
Het |
| Aoah |
T |
C |
13: 21,089,905 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
G |
T |
15: 19,000,012 (GRCm39) |
A486S |
possibly damaging |
Het |
| Cers2 |
A |
T |
3: 95,229,472 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 123,000,975 (GRCm39) |
C229* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,312,118 (GRCm39) |
V1311A |
possibly damaging |
Het |
| Fpr-rs3 |
C |
T |
17: 20,844,859 (GRCm39) |
G94D |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,363 (GRCm39) |
M269K |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,186,689 (GRCm39) |
M73V |
probably benign |
Het |
| Gusb |
A |
T |
5: 130,026,927 (GRCm39) |
V388E |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,587,038 (GRCm39) |
N1267S |
probably benign |
Het |
| Htra4 |
A |
C |
8: 25,523,587 (GRCm39) |
I326S |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,128,888 (GRCm39) |
I780M |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,578,556 (GRCm39) |
S181P |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,202,851 (GRCm39) |
H1882R |
probably damaging |
Het |
| Muc13 |
A |
G |
16: 33,626,411 (GRCm39) |
K317E |
possibly damaging |
Het |
| Nek3 |
A |
G |
8: 22,619,472 (GRCm39) |
F440S |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,540,172 (GRCm39) |
R831H |
probably damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,269 (GRCm39) |
F159L |
probably benign |
Het |
| Or1q1 |
T |
A |
2: 36,886,955 (GRCm39) |
F44L |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
| Palmd |
A |
T |
3: 116,717,742 (GRCm39) |
S252T |
probably damaging |
Het |
| Piezo2 |
C |
A |
18: 63,257,685 (GRCm39) |
M344I |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,221 (GRCm39) |
Q262R |
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,232,706 (GRCm39) |
Y409H |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,462,128 (GRCm39) |
E1017V |
unknown |
Het |
|
| Other mutations in Pygo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02033:Pygo1
|
APN |
9 |
72,852,683 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02445:Pygo1
|
APN |
9 |
72,833,222 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02751:Pygo1
|
APN |
9 |
72,852,319 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02938:Pygo1
|
APN |
9 |
72,852,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Pygo1
|
UTSW |
9 |
72,852,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2190:Pygo1
|
UTSW |
9 |
72,852,529 (GRCm39) |
nonsense |
probably null |
|
|
R5037:Pygo1
|
UTSW |
9 |
72,852,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5523:Pygo1
|
UTSW |
9 |
72,852,266 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5539:Pygo1
|
UTSW |
9 |
72,852,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Pygo1
|
UTSW |
9 |
72,851,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Pygo1
|
UTSW |
9 |
72,852,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Pygo1
|
UTSW |
9 |
72,850,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Pygo1
|
UTSW |
9 |
72,850,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Pygo1
|
UTSW |
9 |
72,852,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8419:Pygo1
|
UTSW |
9 |
72,852,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Pygo1
|
UTSW |
9 |
72,852,436 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8774-TAIL:Pygo1
|
UTSW |
9 |
72,852,436 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9140:Pygo1
|
UTSW |
9 |
72,852,988 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9153:Pygo1
|
UTSW |
9 |
72,852,143 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9456:Pygo1
|
UTSW |
9 |
72,833,056 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation