Incidental Mutation 'R3123:Ppwd1'
| ID |
264170 |
| 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 |
040596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R3123 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104205124-104228843 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104213690 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 396
(E396K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022226
AA Change: E396K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: E396K
| 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 |
|
| Meta Mutation Damage Score |
0.7174 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,358,580 (GRCm38) |
I646V |
possibly damaging |
Het |
| Atp4a |
G |
A |
7: 30,720,225 (GRCm38) |
R671Q |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,804,797 (GRCm38) |
D246G |
probably damaging |
Het |
| Csn1s2b |
T |
C |
5: 87,819,058 (GRCm38) |
|
probably benign |
Het |
| Ctsa |
T |
A |
2: 164,835,232 (GRCm38) |
|
probably null |
Het |
| Cyp2j8 |
G |
A |
4: 96,501,213 (GRCm38) |
|
probably benign |
Het |
| Dach2 |
T |
C |
X: 113,819,967 (GRCm38) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 89,404,721 (GRCm38) |
Y601N |
probably benign |
Het |
| Dhx9 |
T |
C |
1: 153,465,706 (GRCm38) |
K599E |
possibly damaging |
Het |
| Duox2 |
A |
G |
2: 122,281,073 (GRCm38) |
|
probably benign |
Het |
| F2rl3 |
T |
C |
8: 72,763,212 (GRCm38) |
S356P |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,796,554 (GRCm38) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,125,209 (GRCm38) |
R434G |
possibly damaging |
Het |
| Gpr75 |
T |
A |
11: 30,891,709 (GRCm38) |
S205T |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 94,033,958 (GRCm38) |
R268Q |
probably benign |
Het |
| Htt |
T |
C |
5: 34,804,531 (GRCm38) |
S287P |
probably benign |
Het |
| Ifi27l2b |
T |
C |
12: 103,451,335 (GRCm38) |
T198A |
unknown |
Het |
| Kdm5d |
T |
C |
Y: 900,558 (GRCm38) |
V201A |
possibly damaging |
Het |
| Khdrbs2 |
C |
A |
1: 32,519,777 (GRCm38) |
R408L |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,626,488 (GRCm38) |
I129T |
possibly damaging |
Het |
| Macc1 |
T |
C |
12: 119,447,633 (GRCm38) |
F712S |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,083,941 (GRCm38) |
I22K |
probably damaging |
Het |
| Nop2 |
G |
A |
6: 125,132,201 (GRCm38) |
|
probably benign |
Het |
| Or10ag53 |
A |
T |
2: 87,252,791 (GRCm38) |
T285S |
possibly damaging |
Het |
| Or2l13 |
A |
G |
16: 19,487,015 (GRCm38) |
Y59C |
probably damaging |
Het |
| Or2y3 |
G |
A |
17: 38,082,012 (GRCm38) |
|
probably null |
Het |
| Pkd1l1 |
T |
A |
11: 8,973,021 (GRCm38) |
D82V |
unknown |
Het |
| Polr2a |
A |
T |
11: 69,735,710 (GRCm38) |
S1566T |
possibly damaging |
Het |
| Prr30 |
A |
G |
14: 101,198,989 (GRCm38) |
S46P |
probably benign |
Het |
| Pthlh |
A |
T |
6: 147,263,291 (GRCm38) |
V27E |
probably damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,765,423 (GRCm38) |
|
probably null |
Het |
| Rad18 |
A |
T |
6: 112,681,346 (GRCm38) |
D199E |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,158,956 (GRCm38) |
T314A |
possibly damaging |
Het |
| Rbm27 |
A |
G |
18: 42,327,165 (GRCm38) |
E764G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,411,490 (GRCm38) |
|
probably null |
Het |
| Taf15 |
G |
A |
11: 83,504,328 (GRCm38) |
|
probably null |
Het |
| Tas2r140 |
T |
A |
6: 133,055,241 (GRCm38) |
I185L |
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 116,110,069 (GRCm38) |
T230M |
possibly damaging |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 98,867,129 (GRCm38) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 64,966,344 (GRCm38) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 73,025,967 (GRCm38) |
R377W |
probably damaging |
Het |
| Trim9 |
C |
T |
12: 70,248,393 (GRCm38) |
G648R |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,337,483 (GRCm38) |
|
probably benign |
Het |
| Vmn2r109 |
C |
T |
17: 20,540,986 (GRCm38) |
C703Y |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 25,081,601 (GRCm38) |
A683S |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,029,116 (GRCm38) |
|
probably benign |
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 |
|
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'- AATGTAATGGCCATCTCTCCAAGAG -3'
(R):5'- AGTTTGCCCTGTGGATCCTG -3'
Sequencing Primer
(F):5'- GGCCATCTCTCCAAGAGGATCAC -3'
(R):5'- CTGTGGATCCTGTCAAAAGCACTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation