Incidental Mutation 'R5178:Ppwd1'
ID |
399508 |
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 |
042758-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R5178 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
104341632-104365351 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104356943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 191
(S191T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
AlphaFold |
Q8CEC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022226
AA Change: S191T
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022226 Gene: ENSMUSG00000021713 AA Change: S191T
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 |
0.0854 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
Cndp2 |
A |
T |
18: 84,693,153 (GRCm39) |
N202K |
probably benign |
Het |
Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,397,376 (GRCm39) |
F3936V |
possibly damaging |
Het |
Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
Fam171b |
T |
C |
2: 83,710,331 (GRCm39) |
F668L |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,037,344 (GRCm39) |
S624T |
probably benign |
Het |
Gpc2 |
C |
A |
5: 138,273,867 (GRCm39) |
V444L |
possibly damaging |
Het |
Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
Lhx1 |
G |
T |
11: 84,411,214 (GRCm39) |
A155E |
possibly damaging |
Het |
Maip1 |
G |
A |
1: 57,454,849 (GRCm39) |
D278N |
probably benign |
Het |
Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
Mmp17 |
T |
A |
5: 129,672,122 (GRCm39) |
W132R |
probably damaging |
Het |
Or4p7 |
C |
T |
2: 88,221,819 (GRCm39) |
T76I |
possibly damaging |
Het |
Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
Pds5a |
T |
C |
5: 65,821,218 (GRCm39) |
T169A |
probably damaging |
Het |
Pfkm |
A |
G |
15: 98,029,396 (GRCm39) |
N697D |
probably benign |
Het |
Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
Ranbp2 |
T |
A |
10: 58,312,607 (GRCm39) |
M1109K |
probably benign |
Het |
Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
Sp4 |
A |
G |
12: 118,225,624 (GRCm39) |
V580A |
possibly damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,046,667 (GRCm39) |
S413T |
possibly damaging |
Het |
Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
Tmem200a |
T |
A |
10: 25,870,277 (GRCm39) |
Q4H |
probably benign |
Het |
Tpx2 |
T |
A |
2: 152,717,469 (GRCm39) |
I122N |
probably benign |
Het |
Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
Vmn2r95 |
A |
G |
17: 18,660,337 (GRCm39) |
T250A |
probably benign |
Het |
Wasf1 |
G |
A |
10: 40,813,672 (GRCm39) |
R518H |
unknown |
Het |
Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
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 |
IGL02414:Ppwd1
|
APN |
13 |
104,359,645 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTACTCAATCATCCCGG -3'
(R):5'- TGCCTCAGAATACCTTACGACC -3'
Sequencing Primer
(F):5'- TCCCGGATTTGTCAGAAGAC -3'
(R):5'- AAGGCCCTGGATTCAATTCCTAG -3'
|
Posted On |
2016-07-06 |