Incidental Mutation 'IGL00091:Ptchd3'
| ID |
1098 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptchd3
|
| Ensembl Gene |
ENSMUSG00000039198 |
| Gene Name |
patched domain containing 3 |
| Synonyms |
4930451E13Rik, 4933440L20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
121721073-121734249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121721972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 282
(Y282N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036690]
|
| AlphaFold |
Q0EEE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036690
AA Change: Y282N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: Y282N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patched
|
121 |
906 |
1.2e-177 |
PFAM |
|
Pfam:Sterol-sensing
|
363 |
508 |
3.4e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126556
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
T |
7: 132,485,157 (GRCm39) |
Y400F |
probably benign |
Het |
| Adamts8 |
C |
A |
9: 30,864,796 (GRCm39) |
T429K |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
| Ano7 |
A |
T |
1: 93,329,888 (GRCm39) |
H775L |
probably benign |
Het |
| Apoo-ps |
A |
T |
13: 107,551,134 (GRCm39) |
|
noncoding transcript |
Het |
| Arid2 |
T |
C |
15: 96,270,183 (GRCm39) |
V1432A |
probably benign |
Het |
| Atoh1 |
T |
C |
6: 64,706,568 (GRCm39) |
S88P |
possibly damaging |
Het |
| C130050O18Rik |
A |
G |
5: 139,400,601 (GRCm39) |
E218G |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,417,942 (GRCm39) |
F155L |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Cyp1a2 |
G |
T |
9: 57,589,352 (GRCm39) |
S154* |
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
| Dmbt1 |
C |
A |
7: 130,681,270 (GRCm39) |
|
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 98,999,059 (GRCm39) |
F81L |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,839,468 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,576,559 (GRCm39) |
|
probably benign |
Het |
| Gab2 |
T |
C |
7: 96,951,650 (GRCm39) |
S537P |
possibly damaging |
Het |
| Gmds |
G |
A |
13: 32,418,373 (GRCm39) |
S37L |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,760,602 (GRCm39) |
E626G |
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,684 (GRCm39) |
H160R |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,713,349 (GRCm39) |
T1608A |
probably benign |
Het |
| Lama4 |
A |
C |
10: 38,948,801 (GRCm39) |
S855R |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,532,333 (GRCm39) |
H454Y |
probably damaging |
Het |
| Map3k14 |
C |
A |
11: 103,118,405 (GRCm39) |
G594C |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,682,636 (GRCm39) |
N591S |
possibly damaging |
Het |
| Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
| Mptx2 |
T |
G |
1: 173,102,455 (GRCm39) |
N78T |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Nup50 |
T |
A |
15: 84,819,605 (GRCm39) |
F293Y |
probably benign |
Het |
| Ogn |
A |
G |
13: 49,774,514 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pdia3 |
T |
C |
2: 121,244,659 (GRCm39) |
L47P |
probably damaging |
Het |
| Piwil4 |
A |
T |
9: 14,614,393 (GRCm39) |
D786E |
probably damaging |
Het |
| Pspc1 |
A |
G |
14: 57,009,168 (GRCm39) |
L222P |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,156,549 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spire2 |
A |
G |
8: 124,080,798 (GRCm39) |
D14G |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,705,070 (GRCm39) |
|
probably null |
Het |
| Timeless |
T |
C |
10: 128,077,577 (GRCm39) |
L219P |
probably damaging |
Het |
| Tmem63a |
C |
T |
1: 180,790,653 (GRCm39) |
T437M |
probably damaging |
Het |
| Tslp |
A |
G |
18: 32,948,448 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
C |
A |
2: 120,579,314 (GRCm39) |
G534* |
probably null |
Het |
| Uggt1 |
T |
C |
1: 36,218,633 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,899,708 (GRCm39) |
E732G |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,304,022 (GRCm39) |
P1321S |
possibly damaging |
Het |
| Zfp58 |
A |
G |
13: 67,639,114 (GRCm39) |
V459A |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,487,451 (GRCm39) |
S709P |
possibly damaging |
Het |
|
| Other mutations in Ptchd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Ptchd3
|
APN |
11 |
121,721,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02815:Ptchd3
|
APN |
11 |
121,732,430 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4418001:Ptchd3
|
UTSW |
11 |
121,732,566 (GRCm39) |
nonsense |
probably null |
|
|
PIT4791001:Ptchd3
|
UTSW |
11 |
121,722,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0018:Ptchd3
|
UTSW |
11 |
121,733,170 (GRCm39) |
missense |
probably benign |
|
|
R0068:Ptchd3
|
UTSW |
11 |
121,733,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Ptchd3
|
UTSW |
11 |
121,733,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Ptchd3
|
UTSW |
11 |
121,732,916 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0331:Ptchd3
|
UTSW |
11 |
121,733,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0715:Ptchd3
|
UTSW |
11 |
121,721,984 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1200:Ptchd3
|
UTSW |
11 |
121,722,087 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1595:Ptchd3
|
UTSW |
11 |
121,721,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Ptchd3
|
UTSW |
11 |
121,733,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1792:Ptchd3
|
UTSW |
11 |
121,732,377 (GRCm39) |
nonsense |
probably null |
|
|
R2098:Ptchd3
|
UTSW |
11 |
121,733,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Ptchd3
|
UTSW |
11 |
121,721,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4533:Ptchd3
|
UTSW |
11 |
121,727,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Ptchd3
|
UTSW |
11 |
121,727,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4761:Ptchd3
|
UTSW |
11 |
121,727,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4868:Ptchd3
|
UTSW |
11 |
121,721,883 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4948:Ptchd3
|
UTSW |
11 |
121,733,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Ptchd3
|
UTSW |
11 |
121,721,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Ptchd3
|
UTSW |
11 |
121,727,413 (GRCm39) |
intron |
probably benign |
|
|
R6199:Ptchd3
|
UTSW |
11 |
121,721,908 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6431:Ptchd3
|
UTSW |
11 |
121,727,229 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6484:Ptchd3
|
UTSW |
11 |
121,733,764 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7936:Ptchd3
|
UTSW |
11 |
121,721,939 (GRCm39) |
nonsense |
probably null |
|
|
R8120:Ptchd3
|
UTSW |
11 |
121,733,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8311:Ptchd3
|
UTSW |
11 |
121,727,299 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9004:Ptchd3
|
UTSW |
11 |
121,732,687 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9026:Ptchd3
|
UTSW |
11 |
121,721,682 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9091:Ptchd3
|
UTSW |
11 |
121,733,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Ptchd3
|
UTSW |
11 |
121,721,741 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9261:Ptchd3
|
UTSW |
11 |
121,722,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9270:Ptchd3
|
UTSW |
11 |
121,733,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9412:Ptchd3
|
UTSW |
11 |
121,732,779 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9419:Ptchd3
|
UTSW |
11 |
121,732,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9435:Ptchd3
|
UTSW |
11 |
121,721,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9491:Ptchd3
|
UTSW |
11 |
121,733,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ptchd3
|
UTSW |
11 |
121,727,302 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Posted On |
2011-07-12 |
Incidental Mutation