Incidental Mutation 'R6578:Pwwp2b'
ID |
523871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pwwp2b
|
Ensembl Gene |
ENSMUSG00000060260 |
Gene Name |
PWWP domain containing 2B |
Synonyms |
D7Ertd517e, D930023J19Rik, Pwwp2 |
MMRRC Submission |
044702-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R6578 (G1)
|
Quality Score |
185.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
138828398-138847172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 138836028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 490
(C490R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093993]
[ENSMUST00000172136]
|
AlphaFold |
E9Q9M8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093993
AA Change: C490R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091529 Gene: ENSMUSG00000060260 AA Change: C490R
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
120 |
N/A |
INTRINSIC |
low complexity region
|
145 |
165 |
N/A |
INTRINSIC |
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
low complexity region
|
381 |
401 |
N/A |
INTRINSIC |
low complexity region
|
457 |
468 |
N/A |
INTRINSIC |
PDB:4LD6|A
|
485 |
506 |
4e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172136
AA Change: C490R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130888 Gene: ENSMUSG00000060260 AA Change: C490R
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
120 |
N/A |
INTRINSIC |
low complexity region
|
145 |
165 |
N/A |
INTRINSIC |
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
low complexity region
|
381 |
401 |
N/A |
INTRINSIC |
low complexity region
|
457 |
468 |
N/A |
INTRINSIC |
Pfam:PWWP
|
498 |
583 |
5.5e-19 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.4%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
G |
A |
6: 146,854,812 (GRCm39) |
R77* |
probably null |
Het |
Aldh9a1 |
A |
G |
1: 167,183,328 (GRCm39) |
Y182C |
probably damaging |
Het |
Alpk3 |
T |
A |
7: 80,728,432 (GRCm39) |
S521T |
probably benign |
Het |
Ankzf1 |
A |
G |
1: 75,174,401 (GRCm39) |
R464G |
possibly damaging |
Het |
Baz2b |
T |
C |
2: 59,799,623 (GRCm39) |
E232G |
possibly damaging |
Het |
Bbs2 |
T |
C |
8: 94,803,669 (GRCm39) |
S524G |
probably null |
Het |
Casp1 |
A |
G |
9: 5,304,280 (GRCm39) |
K318R |
probably benign |
Het |
Clock |
T |
A |
5: 76,364,556 (GRCm39) |
Q853L |
unknown |
Het |
Clstn3 |
A |
G |
6: 124,427,663 (GRCm39) |
|
probably null |
Het |
Ebpl |
A |
C |
14: 61,597,769 (GRCm39) |
V24G |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,319,014 (GRCm39) |
C568R |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,259,154 (GRCm39) |
I105T |
probably damaging |
Het |
Gm7145 |
C |
T |
1: 117,913,525 (GRCm39) |
P136S |
probably damaging |
Het |
Helb |
G |
T |
10: 119,947,086 (GRCm39) |
R76S |
probably damaging |
Het |
Hipk4 |
T |
C |
7: 27,227,812 (GRCm39) |
I186T |
probably damaging |
Het |
Igdcc3 |
A |
G |
9: 65,089,301 (GRCm39) |
D499G |
probably damaging |
Het |
Krt26 |
T |
A |
11: 99,225,628 (GRCm39) |
Q284H |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,893,361 (GRCm39) |
I156T |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,910,652 (GRCm39) |
F274Y |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,864,411 (GRCm39) |
Q1436L |
probably benign |
Het |
Nin |
A |
G |
12: 70,107,968 (GRCm39) |
V208A |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,253,488 (GRCm39) |
S294G |
probably benign |
Het |
Pappa |
T |
A |
4: 65,074,374 (GRCm39) |
N309K |
possibly damaging |
Het |
Pdcd11 |
T |
C |
19: 47,099,520 (GRCm39) |
V873A |
probably benign |
Het |
Phf14 |
G |
A |
6: 11,991,996 (GRCm39) |
C724Y |
probably damaging |
Het |
Pik3r2 |
T |
G |
8: 71,225,283 (GRCm39) |
I127L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,953,025 (GRCm39) |
M1531K |
possibly damaging |
Het |
Rax |
T |
C |
18: 66,071,738 (GRCm39) |
T50A |
probably benign |
Het |
Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,589,834 (GRCm39) |
V507I |
probably benign |
Het |
Skint8 |
C |
T |
4: 111,794,159 (GRCm39) |
T183I |
probably benign |
Het |
Spata16 |
C |
T |
3: 26,721,697 (GRCm39) |
Q73* |
probably null |
Het |
Sync |
T |
C |
4: 129,188,060 (GRCm39) |
L364P |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,355,454 (GRCm39) |
K376* |
probably null |
Het |
Tanc1 |
C |
T |
2: 59,626,298 (GRCm39) |
R552C |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,939,852 (GRCm39) |
I399V |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,446,247 (GRCm39) |
C455R |
probably damaging |
Het |
|
Other mutations in Pwwp2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Pwwp2b
|
APN |
7 |
138,834,771 (GRCm39) |
nonsense |
probably null |
|
IGL02209:Pwwp2b
|
APN |
7 |
138,835,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02938:Pwwp2b
|
APN |
7 |
138,836,059 (GRCm39) |
missense |
probably damaging |
1.00 |
Conservative
|
UTSW |
7 |
138,835,502 (GRCm39) |
missense |
probably benign |
0.09 |
Edgy
|
UTSW |
7 |
138,835,978 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0033:Pwwp2b
|
UTSW |
7 |
138,834,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0033:Pwwp2b
|
UTSW |
7 |
138,834,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1491:Pwwp2b
|
UTSW |
7 |
138,835,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R1636:Pwwp2b
|
UTSW |
7 |
138,834,758 (GRCm39) |
missense |
probably benign |
0.00 |
R1672:Pwwp2b
|
UTSW |
7 |
138,834,747 (GRCm39) |
missense |
probably benign |
|
R1793:Pwwp2b
|
UTSW |
7 |
138,836,281 (GRCm39) |
missense |
probably damaging |
0.97 |
R2016:Pwwp2b
|
UTSW |
7 |
138,836,067 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2159:Pwwp2b
|
UTSW |
7 |
138,834,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2228:Pwwp2b
|
UTSW |
7 |
138,835,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R2229:Pwwp2b
|
UTSW |
7 |
138,835,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R2380:Pwwp2b
|
UTSW |
7 |
138,835,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R3023:Pwwp2b
|
UTSW |
7 |
138,836,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R3933:Pwwp2b
|
UTSW |
7 |
138,835,950 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4440:Pwwp2b
|
UTSW |
7 |
138,835,555 (GRCm39) |
missense |
probably benign |
0.09 |
R4844:Pwwp2b
|
UTSW |
7 |
138,835,502 (GRCm39) |
missense |
probably benign |
0.09 |
R4873:Pwwp2b
|
UTSW |
7 |
138,835,978 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4875:Pwwp2b
|
UTSW |
7 |
138,835,978 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5022:Pwwp2b
|
UTSW |
7 |
138,835,494 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5446:Pwwp2b
|
UTSW |
7 |
138,835,066 (GRCm39) |
missense |
probably damaging |
0.96 |
R5656:Pwwp2b
|
UTSW |
7 |
138,835,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6465:Pwwp2b
|
UTSW |
7 |
138,835,951 (GRCm39) |
missense |
probably benign |
0.01 |
R6774:Pwwp2b
|
UTSW |
7 |
138,835,903 (GRCm39) |
missense |
probably benign |
0.13 |
R7218:Pwwp2b
|
UTSW |
7 |
138,836,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R7316:Pwwp2b
|
UTSW |
7 |
138,836,140 (GRCm39) |
missense |
probably benign |
0.29 |
R7818:Pwwp2b
|
UTSW |
7 |
138,835,240 (GRCm39) |
missense |
probably benign |
|
R8249:Pwwp2b
|
UTSW |
7 |
138,834,759 (GRCm39) |
missense |
probably damaging |
0.99 |
R8319:Pwwp2b
|
UTSW |
7 |
138,835,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R8671:Pwwp2b
|
UTSW |
7 |
138,836,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Pwwp2b
|
UTSW |
7 |
138,836,086 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9331:Pwwp2b
|
UTSW |
7 |
138,835,357 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Pwwp2b
|
UTSW |
7 |
138,835,722 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTAAACATGGCCGTGATGG -3'
(R):5'- CAAGAATGATGTAGTTGGAGACCC -3'
Sequencing Primer
(F):5'- ACCAGTGAATCTGTGTGCAGC -3'
(R):5'- CAAACCATGAGACTTTCGCTTC -3'
|
Posted On |
2018-06-22 |