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 |