Incidental Mutation 'R2382:Ppwd1'
| ID |
247581 |
| 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 |
040357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R2382 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104205124-104228843 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104207113 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 595
(T595A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022225]
[ENSMUST00000022226]
[ENSMUST00000069187]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022225
|
| SMART Domains |
Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
31 |
75 |
3.07e-5 |
SMART |
|
BBOX
|
122 |
168 |
3.07e-1 |
SMART |
|
BBOX
|
173 |
219 |
1.32e-4 |
SMART |
|
BBC
|
226 |
370 |
2.89e-41 |
SMART |
|
ARF
|
387 |
569 |
1.15e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022226
AA Change: T595A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: T595A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069187
|
| SMART Domains |
Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
31 |
75 |
3.07e-5 |
SMART |
|
BBOX
|
122 |
168 |
3.07e-1 |
SMART |
|
BBOX
|
173 |
219 |
5.95e-3 |
SMART |
|
BBC
|
182 |
309 |
8.07e-22 |
SMART |
|
ARF
|
326 |
508 |
1.15e-78 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,164,546 (GRCm38) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,164,547 (GRCm38) |
E685V |
possibly damaging |
Het |
| Aarsd1 |
T |
A |
11: 101,414,078 (GRCm38) |
I64F |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,176,516 (GRCm38) |
D574V |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,784,842 (GRCm38) |
C16R |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 77,011,542 (GRCm38) |
L1515Q |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 77,074,998 (GRCm38) |
V368E |
probably benign |
Het |
| Clk1 |
A |
T |
1: 58,421,289 (GRCm38) |
S61T |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 109,556,140 (GRCm38) |
D631E |
probably damaging |
Het |
| Dner |
C |
G |
1: 84,370,823 (GRCm38) |
E719Q |
probably damaging |
Het |
| E030025P04Rik |
G |
A |
11: 109,144,054 (GRCm38) |
Q3* |
probably null |
Het |
| Eif4g2 |
T |
A |
7: 111,075,046 (GRCm38) |
T613S |
probably benign |
Het |
| Fn1 |
C |
G |
1: 71,648,119 (GRCm38) |
G193A |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,203,842 (GRCm38) |
E286G |
probably damaging |
Het |
| Gm21286 |
A |
G |
4: 60,838,284 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6614 |
G |
A |
6: 141,990,480 (GRCm38) |
S293F |
probably benign |
Het |
| Gm813 |
T |
C |
16: 58,615,876 (GRCm38) |
|
probably null |
Het |
| Hoxa13 |
A |
T |
6: 52,259,145 (GRCm38) |
V304D |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,931,622 (GRCm38) |
M346K |
probably benign |
Het |
| Igkv1-99 |
A |
T |
6: 68,542,497 (GRCm38) |
|
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 181,112,107 (GRCm38) |
Y237H |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,820,910 (GRCm38) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,760,348 (GRCm38) |
D180G |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,374,832 (GRCm38) |
T4682M |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,708,410 (GRCm38) |
H432L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,919,496 (GRCm38) |
D7E |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 87,984,731 (GRCm38) |
V305I |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,473,781 (GRCm38) |
H880Q |
probably benign |
Het |
| Olfr117 |
A |
C |
17: 37,659,931 (GRCm38) |
V134G |
probably benign |
Het |
| Olfr1353 |
G |
A |
10: 78,970,156 (GRCm38) |
C169Y |
probably damaging |
Het |
| Olfr57 |
A |
T |
10: 79,035,134 (GRCm38) |
I113F |
possibly damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,228,133 (GRCm38) |
R210W |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,768,630 (GRCm38) |
N308S |
probably benign |
Het |
| Prdm13 |
T |
C |
4: 21,678,277 (GRCm38) |
T738A |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 25,990,867 (GRCm38) |
K1062* |
probably null |
Het |
| Reep3 |
A |
T |
10: 67,096,790 (GRCm38) |
V11E |
possibly damaging |
Het |
| Slco3a1 |
T |
C |
7: 74,346,776 (GRCm38) |
D294G |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,378,018 (GRCm38) |
|
probably null |
Het |
| Zfp292 |
A |
G |
4: 34,806,426 (GRCm38) |
V2206A |
possibly damaging |
Het |
|
| Other mutations in Ppwd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Ppwd1
|
APN |
13 |
104,217,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01582:Ppwd1
|
APN |
13 |
104,213,704 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01697:Ppwd1
|
APN |
13 |
104,220,464 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01771:Ppwd1
|
APN |
13 |
104,217,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02414:Ppwd1
|
APN |
13 |
104,223,137 (GRCm38) |
missense |
probably benign |
|
|
IGL02803:Ppwd1
|
APN |
13 |
104,213,684 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02873:Ppwd1
|
APN |
13 |
104,209,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
F5770:Ppwd1
|
UTSW |
13 |
104,220,237 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0462:Ppwd1
|
UTSW |
13 |
104,222,960 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1638:Ppwd1
|
UTSW |
13 |
104,220,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2211:Ppwd1
|
UTSW |
13 |
104,207,142 (GRCm38) |
missense |
probably benign |
0.26 |
|
R2226:Ppwd1
|
UTSW |
13 |
104,217,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2299:Ppwd1
|
UTSW |
13 |
104,220,063 (GRCm38) |
missense |
probably benign |
|
|
R2353:Ppwd1
|
UTSW |
13 |
104,213,582 (GRCm38) |
missense |
probably benign |
|
|
R3123:Ppwd1
|
UTSW |
13 |
104,213,690 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4521:Ppwd1
|
UTSW |
13 |
104,209,659 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4972:Ppwd1
|
UTSW |
13 |
104,220,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5125:Ppwd1
|
UTSW |
13 |
104,220,435 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5178:Ppwd1
|
UTSW |
13 |
104,220,435 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5468:Ppwd1
|
UTSW |
13 |
104,225,444 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R5638:Ppwd1
|
UTSW |
13 |
104,220,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6748:Ppwd1
|
UTSW |
13 |
104,208,030 (GRCm38) |
nonsense |
probably null |
|
|
R7095:Ppwd1
|
UTSW |
13 |
104,205,626 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7201:Ppwd1
|
UTSW |
13 |
104,207,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7206:Ppwd1
|
UTSW |
13 |
104,213,598 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7664:Ppwd1
|
UTSW |
13 |
104,220,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7746:Ppwd1
|
UTSW |
13 |
104,217,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9259:Ppwd1
|
UTSW |
13 |
104,223,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9354:Ppwd1
|
UTSW |
13 |
104,205,572 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9408:Ppwd1
|
UTSW |
13 |
104,209,647 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
V7580:Ppwd1
|
UTSW |
13 |
104,220,237 (GRCm38) |
missense |
probably damaging |
0.98 |
|
V7581:Ppwd1
|
UTSW |
13 |
104,220,237 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTGCCTACTAGACAGAAATAGTG -3'
(R):5'- AGAGATAACTGCACTTCATATACCC -3'
Sequencing Primer
(F):5'- GCCTACTAGACAGAAATAGTGTTTTC -3'
(R):5'- ATACTTTCTGTTACCAGGGCTTCATG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation