Incidental Mutation 'IGL01697:Ppwd1'
| ID |
104314 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppwd1
|
| Ensembl Gene |
ENSMUSG00000021713 |
| Gene Name |
peptidylprolyl isomerase domain and WD repeat containing 1 |
| Synonyms |
4632422M10Rik, A330090G21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL01697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104205124-104228843 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104220464 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 181
(E181G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022226
AA Change: E181G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: E181G
| 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 |
noncoding transcript
Transcript: ENSMUST00000223755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225798
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,119,156 (GRCm38) |
|
probably benign |
Het |
| Arid2 |
A |
C |
15: 96,361,572 (GRCm38) |
|
probably null |
Het |
| Cadm1 |
C |
A |
9: 47,850,324 (GRCm38) |
D435E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,271,198 (GRCm38) |
F33L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,643,730 (GRCm38) |
H199R |
probably benign |
Het |
| F5 |
T |
A |
1: 164,194,052 (GRCm38) |
N1365K |
probably benign |
Het |
| Gipc2 |
T |
G |
3: 152,137,608 (GRCm38) |
I131L |
probably benign |
Het |
| Gpc1 |
C |
T |
1: 92,858,410 (GRCm38) |
S507F |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,309,257 (GRCm38) |
D269G |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,366,953 (GRCm38) |
M1K |
probably null |
Het |
| Kif5b |
T |
C |
18: 6,226,871 (GRCm38) |
H129R |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,559,565 (GRCm38) |
C252S |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,767,893 (GRCm38) |
N645K |
probably damaging |
Het |
| Megf9 |
T |
A |
4: 70,433,472 (GRCm38) |
T471S |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,976,493 (GRCm38) |
D586G |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,939,947 (GRCm38) |
L1206Q |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 144,195,184 (GRCm38) |
N221K |
possibly damaging |
Het |
| Or13a17 |
T |
C |
7: 140,691,652 (GRCm38) |
V249A |
possibly damaging |
Het |
| Or5b96 |
T |
A |
19: 12,890,467 (GRCm38) |
T37S |
probably benign |
Het |
| Or6c8b |
C |
A |
10: 129,046,502 (GRCm38) |
C187F |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,324,579 (GRCm38) |
A365V |
probably damaging |
Het |
| Scaf11 |
A |
C |
15: 96,423,623 (GRCm38) |
|
probably benign |
Het |
| Skic3 |
C |
T |
13: 76,128,733 (GRCm38) |
L479F |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,980,457 (GRCm38) |
|
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,875,663 (GRCm38) |
I8V |
probably benign |
Het |
| Spata31f3 |
T |
A |
4: 42,874,163 (GRCm38) |
M2L |
probably benign |
Het |
| Stim1 |
A |
T |
7: 102,425,969 (GRCm38) |
|
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,399,729 (GRCm38) |
S357P |
probably benign |
Het |
| Vmn1r178 |
T |
A |
7: 23,893,689 (GRCm38) |
I54N |
probably damaging |
Het |
| Zdhhc2 |
T |
C |
8: 40,467,419 (GRCm38) |
|
probably benign |
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 |
|
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 |
|
|
R2382:Ppwd1
|
UTSW |
13 |
104,207,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation