Incidental Mutation 'IGL02414:Ppwd1'
| ID |
292373 |
| 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 # |
IGL02414
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104341632-104365351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 104359645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 119
(I119L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022226
AA Change: I119L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I119L
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
C |
T |
2: 163,571,960 (GRCm39) |
D273N |
probably benign |
Het |
| Btbd9 |
A |
C |
17: 30,439,533 (GRCm39) |
C551W |
possibly damaging |
Het |
| Casp2 |
T |
A |
6: 42,257,380 (GRCm39) |
L443H |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,092,503 (GRCm39) |
Y703H |
possibly damaging |
Het |
| Clta |
T |
C |
4: 44,030,274 (GRCm39) |
|
probably benign |
Het |
| Cstdc2 |
T |
G |
2: 148,692,598 (GRCm39) |
K68T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,919,387 (GRCm39) |
D1120G |
probably benign |
Het |
| Ece2 |
A |
G |
16: 20,459,456 (GRCm39) |
D597G |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,403 (GRCm39) |
V526A |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,633,198 (GRCm39) |
D60E |
probably benign |
Het |
| Gpr85 |
A |
T |
6: 13,836,909 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,308,385 (GRCm39) |
S208R |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,283,771 (GRCm39) |
I1252T |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,900,804 (GRCm39) |
V835A |
possibly damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,965 (GRCm39) |
M81K |
probably benign |
Het |
| Or5ac25 |
C |
T |
16: 59,182,077 (GRCm39) |
C168Y |
probably damaging |
Het |
| Prex1 |
T |
C |
2: 166,451,748 (GRCm39) |
K410R |
probably damaging |
Het |
| Prm2 |
C |
T |
16: 10,609,754 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,386,874 (GRCm39) |
T166A |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,977,765 (GRCm39) |
V98A |
probably benign |
Het |
| Sdsl |
G |
A |
5: 120,600,124 (GRCm39) |
T91I |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,754,494 (GRCm39) |
M211T |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,723,885 (GRCm39) |
|
probably null |
Het |
| Ttc1 |
T |
C |
11: 43,630,664 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation