Incidental Mutation 'R5638:Ppwd1'
| ID |
440506 |
| 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 |
043168-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R5638 (G1)
|
| 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 104220398 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 203
(I203T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022226
AA Change: I203T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I203T
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
G |
A |
10: 76,452,895 |
A96T |
probably benign |
Het |
| A930018M24Rik |
T |
C |
14: 50,896,957 |
D76G |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,611,750 |
R1631W |
probably damaging |
Het |
| Alg5 |
C |
T |
3: 54,738,833 |
H40Y |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 68,118,751 |
L270P |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 17,159,935 |
Y457C |
probably damaging |
Het |
| Cenpa |
A |
T |
5: 30,673,392 |
R124W |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,455,531 |
T1385A |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,011,450 |
H1570L |
possibly damaging |
Het |
| Cmtm4 |
T |
C |
8: 104,357,724 |
I113V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,891,626 |
I1789T |
possibly damaging |
Het |
| Dpf3 |
G |
A |
12: 83,324,940 |
R174W |
probably damaging |
Het |
| Dusp26 |
T |
C |
8: 31,094,141 |
L92P |
probably damaging |
Het |
| Fndc7 |
T |
A |
3: 108,862,892 |
T659S |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,359,081 |
H357R |
possibly damaging |
Het |
| G0s2 |
A |
T |
1: 193,272,551 |
L75H |
probably damaging |
Het |
| Gm10184 |
T |
C |
17: 89,910,207 |
E37G |
probably damaging |
Het |
| Gm5493 |
A |
G |
17: 22,750,092 |
T82A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 56,204,416 |
V3690A |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,087,800 |
V537F |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,818,475 |
R2101W |
possibly damaging |
Het |
| Mrgpra6 |
G |
T |
7: 47,185,909 |
P255T |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,048,300 |
V229A |
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,349,399 |
K145M |
probably damaging |
Het |
| Olfr800 |
T |
A |
10: 129,660,100 |
I98K |
possibly damaging |
Het |
| Olfr836 |
T |
A |
9: 19,121,380 |
C142S |
probably benign |
Het |
| Ppt2 |
C |
A |
17: 34,625,849 |
M140I |
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,645,588 |
T589A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,397,415 |
L453P |
probably benign |
Het |
| Ptpn14 |
A |
G |
1: 189,786,841 |
T23A |
probably damaging |
Het |
| Rxrb |
T |
C |
17: 34,037,407 |
L374P |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,244,310 |
E710G |
unknown |
Het |
| Sik1 |
C |
T |
17: 31,850,828 |
V216I |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,950,193 |
L359M |
probably damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,813,872 |
K236* |
probably null |
Het |
| Slc38a4 |
A |
C |
15: 97,012,990 |
S135A |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,412,260 |
V263D |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,392,883 |
I168M |
unknown |
Het |
| Spag9 |
C |
A |
11: 94,069,012 |
D342E |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,492,891 |
S4508P |
possibly damaging |
Het |
| Stat5b |
C |
A |
11: 100,784,254 |
E710* |
probably null |
Het |
| Stip1 |
G |
A |
19: 7,032,515 |
P213L |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 126,450,686 |
L749Q |
probably damaging |
Het |
| Thsd7b |
T |
G |
1: 129,595,533 |
S24R |
probably benign |
Het |
| Upp2 |
T |
C |
2: 58,790,095 |
V293A |
probably damaging |
Het |
| Vmn2r65 |
C |
T |
7: 84,940,839 |
C623Y |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,308,799 |
V742A |
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 |
|
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 |
|
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'- AAGTCTGTGTCTGTCTTATACTCCCAG -3'
(R):5'- TGCTAAAGGTAGGCCAGAGC -3'
Sequencing Primer
(F):5'- CCCAGTTCACATTTTTAGGGAAC -3'
(R):5'- CTAAAGGTAGGCCAGAGCATTTTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation