Incidental Mutation 'V7580:Ppwd1'
| ID |
69432 |
| Institutional Source |
Beutler Lab
|
| 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 # |
V7580 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104205124-104228843 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104220237 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 257
(Y257H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022226
AA Change: Y257H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: Y257H
| 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
|
| Meta Mutation Damage Score |
0.2204 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,886,179 (GRCm38) |
M950L |
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,124,443 (GRCm38) |
T282A |
possibly damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,944 (GRCm38) |
H333Y |
probably benign |
Het |
| Cd36 |
ACTGTCTGT |
ACTGT |
5: 17,820,528 (GRCm38) |
|
probably null |
Het |
| Cfi |
T |
A |
3: 129,854,992 (GRCm38) |
I175K |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,201,011 (GRCm38) |
T870A |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,773,093 (GRCm38) |
N1369K |
possibly damaging |
Het |
| Dnajc22 |
T |
A |
15: 99,101,482 (GRCm38) |
Y183N |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,855,926 (GRCm38) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm38) |
T249A |
probably benign |
Het |
| Gm10770 |
T |
A |
2: 150,179,484 (GRCm38) |
K38* |
probably null |
Het |
| Gm4787 |
G |
A |
12: 81,377,567 (GRCm38) |
Q606* |
probably null |
Het |
| Izumo4 |
A |
T |
10: 80,703,891 (GRCm38) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,710,091 (GRCm38) |
I396V |
probably benign |
Het |
| Klc1 |
A |
T |
12: 111,774,572 (GRCm38) |
I161F |
probably benign |
Het |
| Lpar5 |
C |
A |
6: 125,081,727 (GRCm38) |
A137E |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,488,518 (GRCm38) |
S900L |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,455,512 (GRCm38) |
N3176T |
possibly damaging |
Het |
| Med20 |
G |
A |
17: 47,618,832 (GRCm38) |
V65M |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,995,204 (GRCm38) |
|
probably null |
Het |
| Numbl |
T |
C |
7: 27,279,602 (GRCm38) |
S379P |
probably benign |
Het |
| Olfr1406 |
G |
T |
1: 173,183,964 (GRCm38) |
L157I |
probably benign |
Het |
| Olfr1440 |
G |
A |
19: 12,394,550 (GRCm38) |
V96I |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,344,838 (GRCm38) |
L432Q |
probably damaging |
Het |
| Papln |
C |
T |
12: 83,778,834 (GRCm38) |
R608C |
possibly damaging |
Het |
| Pelp1 |
T |
A |
11: 70,398,150 (GRCm38) |
T257S |
probably damaging |
Het |
| Pigx |
T |
C |
16: 32,087,422 (GRCm38) |
D129G |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,657,319 (GRCm38) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,654,618 (GRCm38) |
T112A |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,706,169 (GRCm38) |
D705G |
possibly damaging |
Het |
| Ror1 |
A |
G |
4: 100,440,933 (GRCm38) |
Q501R |
probably damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,689,538 (GRCm38) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm38) |
E192G |
probably damaging |
Het |
| Spata31 |
C |
A |
13: 64,921,648 (GRCm38) |
P537T |
probably benign |
Het |
| Sptbn2 |
C |
T |
19: 4,750,632 (GRCm38) |
R2292C |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,723,326 (GRCm38) |
R770H |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,831,577 (GRCm38) |
K150E |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,225,060 (GRCm38) |
V86A |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm38) |
C2087Y |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,812,394 (GRCm38) |
R724* |
probably null |
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 |
|
|
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 |
|
V7581:Ppwd1
|
UTSW |
13 |
104,220,237 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAATCCCAACTTCTGTCACAGC -3'
(R):5'- GTGGATATATTGCCCAGGAGATGCC -3'
Sequencing Primer
(F):5'- CATcaatgcaagattaaagacaactg -3'
(R):5'- TATTGCCCAGGAGATGCCATATC -3'
|
| Posted On |
2013-09-04 |
Incidental Mutation