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: 0.957)
|
| Stock # |
R6748 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104205124-104228843 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 104208030 bp (GRCm38)
|
| 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: 38,535,246 (GRCm38) |
R178I |
probably damaging |
Het |
| Agr3 |
A |
G |
12: 35,947,595 (GRCm38) |
|
probably null |
Het |
| Aoc1 |
C |
T |
6: 48,906,294 (GRCm38) |
T368I |
possibly damaging |
Het |
| Aph1c |
A |
G |
9: 66,833,295 (GRCm38) |
S50P |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,404,810 (GRCm38) |
E341G |
possibly damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,525,224 (GRCm38) |
M926K |
possibly damaging |
Het |
| C1qtnf9 |
A |
G |
14: 60,779,827 (GRCm38) |
N269D |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,294,839 (GRCm38) |
|
probably benign |
Het |
| Clec4a1 |
T |
C |
6: 122,933,897 (GRCm38) |
I237T |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,310,159 (GRCm38) |
N3S |
probably benign |
Het |
| Col19a1 |
A |
G |
1: 24,534,070 (GRCm38) |
I207T |
unknown |
Het |
| Cyp2j8 |
T |
A |
4: 96,475,545 (GRCm38) |
T294S |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,299,988 (GRCm38) |
I1186T |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,720,637 (GRCm38) |
V4423G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,704,466 (GRCm38) |
I485F |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,403,202 (GRCm38) |
C244* |
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,274,397 (GRCm38) |
I435K |
probably benign |
Het |
| Fzd5 |
A |
G |
1: 64,735,564 (GRCm38) |
M346T |
possibly damaging |
Het |
| Gc |
T |
C |
5: 89,435,572 (GRCm38) |
T371A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,916,296 (GRCm38) |
T23S |
possibly damaging |
Het |
| Gm7792 |
T |
C |
5: 93,852,213 (GRCm38) |
W38R |
probably benign |
Het |
| Hbq1a |
A |
G |
11: 32,300,169 (GRCm38) |
|
probably null |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,501,188 (GRCm38) |
|
probably null |
Het |
| Il1rap |
A |
T |
16: 26,722,356 (GRCm38) |
N449I |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,899,297 (GRCm38) |
D279E |
probably damaging |
Het |
| Mat2b |
T |
A |
11: 40,680,194 (GRCm38) |
I268F |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,550,184 (GRCm38) |
F2421L |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,701,503 (GRCm38) |
R878Q |
possibly damaging |
Het |
| Nkx2-6 |
A |
G |
14: 69,175,106 (GRCm38) |
D241G |
probably benign |
Het |
| Olfr1306 |
T |
A |
2: 111,912,357 (GRCm38) |
N191I |
possibly damaging |
Het |
| Olfr191 |
T |
A |
16: 59,085,890 (GRCm38) |
M198L |
probably benign |
Het |
| Pcdhb22 |
A |
C |
18: 37,518,746 (GRCm38) |
D89A |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 125,850,335 (GRCm38) |
R986Q |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,794,182 (GRCm38) |
|
probably null |
Het |
| Rnf126 |
A |
G |
10: 79,762,136 (GRCm38) |
L131P |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,182,624 (GRCm38) |
C379S |
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,566,794 (GRCm38) |
Y133C |
probably damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,149,507 (GRCm38) |
V112D |
possibly damaging |
Het |
| Slc35f3 |
A |
T |
8: 126,394,638 (GRCm38) |
R413* |
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,669,611 (GRCm38) |
F754L |
probably damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,495,254 (GRCm38) |
S615P |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,386,102 (GRCm38) |
K80R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,746,084 (GRCm38) |
T24822A |
possibly damaging |
Het |
| Vmn1r222 |
C |
A |
13: 23,232,947 (GRCm38) |
R32L |
probably benign |
Het |
| Zfp354b |
G |
A |
11: 50,922,832 (GRCm38) |
T422M |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,208,830 (GRCm38) |
T2218M |
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 |
|
R5638:Ppwd1
|
UTSW |
13 |
104,220,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- AGGTTCTCCGAGGTTGCATG -3'
(R):5'- GACCGGATTATGAAGGACTGTC -3'
Sequencing Primer
(F):5'- CCGAGGTTGCATGTCATTATTGCTC -3'
(R):5'- CTTGAGAACATTAGAAAATGGA -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation