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 |
104341632-104365351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104343621 bp (GRCm39)
|
| 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: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aarsd1 |
T |
A |
11: 101,304,904 (GRCm39) |
I64F |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,260,973 (GRCm39) |
D574V |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,564 (GRCm39) |
C16R |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,841,886 (GRCm39) |
L1515Q |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,905,342 (GRCm39) |
V368E |
probably benign |
Het |
| Clk1 |
A |
T |
1: 58,460,448 (GRCm39) |
S61T |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Dner |
C |
G |
1: 84,348,544 (GRCm39) |
E719Q |
probably damaging |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,880 (GRCm39) |
Q3* |
probably null |
Het |
| Eif4g2 |
T |
A |
7: 110,674,253 (GRCm39) |
T613S |
probably benign |
Het |
| Fn1 |
C |
G |
1: 71,687,278 (GRCm39) |
G193A |
probably damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,436,239 (GRCm39) |
|
probably null |
Het |
| Gls2 |
A |
G |
10: 128,039,711 (GRCm39) |
E286G |
probably damaging |
Het |
| Gm21286 |
A |
G |
4: 60,794,283 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa13 |
A |
T |
6: 52,236,125 (GRCm39) |
V304D |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,061 (GRCm39) |
M346K |
probably benign |
Het |
| Igkv1-99 |
A |
T |
6: 68,519,481 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 180,753,900 (GRCm39) |
Y237H |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,732,207 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,898,411 (GRCm39) |
D180G |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,268,625 (GRCm39) |
T4682M |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,747,569 (GRCm39) |
H432L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,810,322 (GRCm39) |
D7E |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,292,159 (GRCm39) |
V305I |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,363,793 (GRCm39) |
H880Q |
probably benign |
Het |
| Or2g25 |
A |
C |
17: 37,970,822 (GRCm39) |
V134G |
probably benign |
Het |
| Or7a37 |
G |
A |
10: 78,805,990 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,968 (GRCm39) |
I113F |
possibly damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,757,062 (GRCm39) |
N308S |
probably benign |
Het |
| Prdm13 |
T |
C |
4: 21,678,277 (GRCm39) |
T738A |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,209,841 (GRCm39) |
K1062* |
probably null |
Het |
| Reep3 |
A |
T |
10: 66,932,569 (GRCm39) |
V11E |
possibly damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,936,206 (GRCm39) |
S293F |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,996,524 (GRCm39) |
D294G |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,019,811 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
A |
G |
4: 34,806,426 (GRCm39) |
V2206A |
possibly damaging |
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 |
|
|
R3123:Ppwd1
|
UTSW |
13 |
104,350,198 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4521:Ppwd1
|
UTSW |
13 |
104,346,167 (GRCm39) |
missense |
probably benign |
0.16 |
|
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'- CACATTGCCTACTAGACAGAAATAGTG -3'
(R):5'- AGAGATAACTGCACTTCATATACCC -3'
Sequencing Primer
(F):5'- GCCTACTAGACAGAAATAGTGTTTTC -3'
(R):5'- ATACTTTCTGTTACCAGGGCTTCATG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation