Incidental Mutation 'R6748:Ppwd1'
| ID |
530661 |
| 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 |
044865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6748 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104341632-104365351 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 104344538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 527
(Y527*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
[ENSMUST00000069187]
|
| AlphaFold |
Q8CEC6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022226
AA Change: Y527*
|
| SMART Domains |
Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: Y527*
| 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 |
probably benign
Transcript: ENSMUST00000069187
|
| SMART Domains |
Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
31 |
75 |
3.07e-5 |
SMART |
|
BBOX
|
122 |
168 |
3.07e-1 |
SMART |
|
BBOX
|
173 |
219 |
5.95e-3 |
SMART |
|
BBC
|
182 |
309 |
8.07e-22 |
SMART |
|
ARF
|
326 |
508 |
1.15e-78 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
A |
1: 38,574,327 (GRCm39) |
R178I |
probably damaging |
Het |
| Agr3 |
A |
G |
12: 35,997,594 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
C |
T |
6: 48,883,228 (GRCm39) |
T368I |
possibly damaging |
Het |
| Aph1c |
A |
G |
9: 66,740,577 (GRCm39) |
S50P |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,232,378 (GRCm39) |
E341G |
possibly damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,361,058 (GRCm39) |
M926K |
possibly damaging |
Het |
| C1qtnf9 |
A |
G |
14: 61,017,276 (GRCm39) |
N269D |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,261,273 (GRCm39) |
|
probably benign |
Het |
| Clec4a1 |
T |
C |
6: 122,910,856 (GRCm39) |
I237T |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,217,441 (GRCm39) |
N3S |
probably benign |
Het |
| Col19a1 |
A |
G |
1: 24,573,151 (GRCm39) |
I207T |
unknown |
Het |
| Cyp2j8 |
T |
A |
4: 96,363,782 (GRCm39) |
T294S |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,021,945 (GRCm39) |
I1186T |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,369,844 (GRCm39) |
V4423G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,754,465 (GRCm39) |
I485F |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,314,502 (GRCm39) |
C244* |
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,274,397 (GRCm39) |
I435K |
probably benign |
Het |
| Fzd5 |
A |
G |
1: 64,774,723 (GRCm39) |
M346T |
possibly damaging |
Het |
| Gc |
T |
C |
5: 89,583,431 (GRCm39) |
T371A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,807,123 (GRCm39) |
T23S |
possibly damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,169 (GRCm39) |
|
probably null |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Il1rap |
A |
T |
16: 26,541,106 (GRCm39) |
N449I |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,719,667 (GRCm39) |
D279E |
probably damaging |
Het |
| Mat2b |
T |
A |
11: 40,571,021 (GRCm39) |
I268F |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,634,641 (GRCm39) |
F2421L |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Nkx2-6 |
A |
G |
14: 69,412,555 (GRCm39) |
D241G |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,742,702 (GRCm39) |
N191I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
Het |
| Pcdhb22 |
A |
C |
18: 37,651,799 (GRCm39) |
D89A |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,577,074 (GRCm39) |
R986Q |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,490 (GRCm39) |
|
probably null |
Het |
| Pramel35 |
T |
C |
5: 94,000,072 (GRCm39) |
W38R |
probably benign |
Het |
| Rnf126 |
A |
G |
10: 79,597,970 (GRCm39) |
L131P |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,330,688 (GRCm39) |
C379S |
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,408,714 (GRCm39) |
Y133C |
probably damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,056,823 (GRCm39) |
V112D |
possibly damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,121,377 (GRCm39) |
R413* |
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,396,922 (GRCm39) |
F754L |
probably damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,652,598 (GRCm39) |
S615P |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,216,447 (GRCm39) |
K80R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,428 (GRCm39) |
T24822A |
possibly damaging |
Het |
| Vmn1r222 |
C |
A |
13: 23,417,117 (GRCm39) |
R32L |
probably benign |
Het |
| Zfp354b |
G |
A |
11: 50,813,659 (GRCm39) |
T422M |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,226,955 (GRCm39) |
T2218M |
probably damaging |
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 |
|
R5178: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 |
|
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'- AGGTTCTCCGAGGTTGCATG -3'
(R):5'- GACCGGATTATGAAGGACTGTC -3'
Sequencing Primer
(F):5'- CCGAGGTTGCATGTCATTATTGCTC -3'
(R):5'- CTTGAGAACATTAGAAAATGGA -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation