Incidental Mutation 'R4521:Ppwd1'
| ID |
334236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppwd1
|
| Ensembl Gene |
ENSMUSG00000021713 |
| Gene Name |
peptidylprolyl isomerase domain and WD repeat containing 1 |
| Synonyms |
4632422M10Rik, A330090G21Rik |
| MMRRC Submission |
041764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R4521 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104341632-104365351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104346167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 496
(V496A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022226
AA Change: V496A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: V496A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
80 |
117 |
2.96e-2 |
SMART |
|
WD40
|
122 |
161 |
8.49e-3 |
SMART |
|
Blast:WD40
|
164 |
207 |
9e-6 |
BLAST |
|
WD40
|
211 |
251 |
2.76e0 |
SMART |
|
WD40
|
269 |
308 |
1.4e-3 |
SMART |
|
Blast:WD40
|
343 |
382 |
2e-6 |
BLAST |
|
Blast:WD40
|
433 |
460 |
3e-7 |
BLAST |
|
Pfam:Pro_isomerase
|
493 |
645 |
1.9e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Bora |
G |
T |
14: 99,305,984 (GRCm39) |
S451I |
probably damaging |
Het |
| Cadm3 |
A |
T |
1: 173,172,630 (GRCm39) |
|
probably null |
Het |
| Car14 |
A |
G |
3: 95,811,690 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdc20b |
A |
G |
13: 113,217,725 (GRCm39) |
I381M |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,540,639 (GRCm39) |
V2449I |
probably benign |
Het |
| Crb2 |
T |
C |
2: 37,685,349 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,218,059 (GRCm39) |
D347E |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,777,871 (GRCm39) |
R372H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,834,238 (GRCm39) |
N4118S |
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,509 (GRCm39) |
R168S |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,355,440 (GRCm39) |
I281T |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,346 (GRCm39) |
N259K |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,273,561 (GRCm39) |
K564E |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,870,626 (GRCm39) |
H2875R |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,452,608 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,376,922 (GRCm39) |
M1K |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,462,825 (GRCm39) |
C612R |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,724,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,042,126 (GRCm39) |
C1315S |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,884,938 (GRCm39) |
L243H |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,447 (GRCm39) |
D100G |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,041,264 (GRCm39) |
Y801H |
probably damaging |
Het |
| Or51b6b |
C |
T |
7: 103,309,539 (GRCm39) |
R306H |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,050 (GRCm39) |
N136I |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,459 (GRCm39) |
Y118H |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,805,633 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,050,683 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,197 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,085 (GRCm39) |
I287T |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,211,401 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
G |
A |
11: 115,707,932 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Wdr36 |
G |
A |
18: 32,974,201 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ppwd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Ppwd1
|
APN |
13 |
104,353,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01582:Ppwd1
|
APN |
13 |
104,350,212 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01697:Ppwd1
|
APN |
13 |
104,356,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01771:Ppwd1
|
APN |
13 |
104,353,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02414:Ppwd1
|
APN |
13 |
104,359,645 (GRCm39) |
missense |
probably benign |
|
|
IGL02803:Ppwd1
|
APN |
13 |
104,350,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02873:Ppwd1
|
APN |
13 |
104,346,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Ppwd1
|
UTSW |
13 |
104,356,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Ppwd1
|
UTSW |
13 |
104,359,468 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1638:Ppwd1
|
UTSW |
13 |
104,356,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Ppwd1
|
UTSW |
13 |
104,343,650 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2226:Ppwd1
|
UTSW |
13 |
104,353,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Ppwd1
|
UTSW |
13 |
104,356,571 (GRCm39) |
missense |
probably benign |
|
|
R2353:Ppwd1
|
UTSW |
13 |
104,350,090 (GRCm39) |
missense |
probably benign |
|
|
R2382:Ppwd1
|
UTSW |
13 |
104,343,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3123:Ppwd1
|
UTSW |
13 |
104,350,198 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4972:Ppwd1
|
UTSW |
13 |
104,356,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5125:Ppwd1
|
UTSW |
13 |
104,356,943 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5178:Ppwd1
|
UTSW |
13 |
104,356,943 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5468:Ppwd1
|
UTSW |
13 |
104,361,952 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5638:Ppwd1
|
UTSW |
13 |
104,356,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6748:Ppwd1
|
UTSW |
13 |
104,344,538 (GRCm39) |
nonsense |
probably null |
|
|
R7095:Ppwd1
|
UTSW |
13 |
104,342,134 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7201:Ppwd1
|
UTSW |
13 |
104,343,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Ppwd1
|
UTSW |
13 |
104,350,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7664:Ppwd1
|
UTSW |
13 |
104,356,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7746:Ppwd1
|
UTSW |
13 |
104,353,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Ppwd1
|
UTSW |
13 |
104,359,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9354:Ppwd1
|
UTSW |
13 |
104,342,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9408:Ppwd1
|
UTSW |
13 |
104,346,155 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
V7580:Ppwd1
|
UTSW |
13 |
104,356,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
V7581:Ppwd1
|
UTSW |
13 |
104,356,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCACAATAGGCTGCATTAAAAG -3'
(R):5'- GGTAAGTTGTTTAATTCAGCTGCTCAC -3'
Sequencing Primer
(F):5'- GGCTGCATTAAAAGTAATCTTTCTC -3'
(R):5'- GTTTAATTCAGCTGCTCACATTTTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation