Incidental Mutation 'R2299:Ppwd1'
| ID |
245275 |
| 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 |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104205124-104228843 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104220063 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 315
(M315V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022226
AA Change: M315V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: M315V
| 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 |
0.0585 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930415L06Rik |
A |
G |
X: 89,932,399 (GRCm38) |
M64T |
possibly damaging |
Het |
| 4933434E20Rik |
A |
G |
3: 90,064,538 (GRCm38) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,953,285 (GRCm38) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,258,222 (GRCm38) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,699,110 (GRCm38) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 94,938,576 (GRCm38) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,590,254 (GRCm38) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 60,916,651 (GRCm38) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,845,202 (GRCm38) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,525,342 (GRCm38) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,302,108 (GRCm38) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,655,236 (GRCm38) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 172,121,725 (GRCm38) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,805,551 (GRCm38) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,286,131 (GRCm38) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,340,150 (GRCm38) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,863,992 (GRCm38) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 55,060,583 (GRCm38) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 142,273,835 (GRCm38) |
C177S |
unknown |
Het |
| H3f3a |
C |
T |
1: 180,803,138 (GRCm38) |
R117H |
probably benign |
Het |
| Hist1h2bh |
A |
G |
13: 23,543,184 (GRCm38) |
S57P |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,773,477 (GRCm38) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,516,877 (GRCm38) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,976,441 (GRCm38) |
K569E |
probably damaging |
Het |
| Olfr583 |
T |
C |
7: 103,051,582 (GRCm38) |
W95R |
probably damaging |
Het |
| Prss21 |
A |
G |
17: 23,869,589 (GRCm38) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,392,513 (GRCm38) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,726,070 (GRCm38) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,308,085 (GRCm38) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,776 (GRCm38) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,441,778 (GRCm38) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,530,423 (GRCm38) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,374,621 (GRCm38) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,745,719 (GRCm38) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,754,004 (GRCm38) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,464,581 (GRCm38) |
V536M |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCACCTCAACAAATGCTGAGAG -3'
(R):5'- GCCGCACGAATATAAGTTCCC -3'
Sequencing Primer
(F):5'- GGTAATGAAGCAATATCACACGATC -3'
(R):5'- GTTCCCTAAAAATGTGAACTGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation