Incidental Mutation 'IGL01929:Ptchd4'
| ID |
180372 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptchd4
|
| Ensembl Gene |
ENSMUSG00000042256 |
| Gene Name |
patched domain containing 4 |
| Synonyms |
3110082D06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL01929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42814213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 705
(T705S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
| AlphaFold |
B9EKX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048691
AA Change: T705S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: T705S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patched
|
58 |
867 |
6.1e-102 |
PFAM |
|
Pfam:Sterol-sensing
|
312 |
464 |
2.9e-26 |
PFAM |
|
low complexity region
|
869 |
891 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
G |
A |
3: 89,251,445 (GRCm39) |
P467S |
probably benign |
Het |
| Areg |
T |
C |
5: 91,292,312 (GRCm39) |
I204T |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,550,874 (GRCm39) |
Y3137* |
probably null |
Het |
| Dnajc10 |
T |
G |
2: 80,158,420 (GRCm39) |
C270W |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,449,217 (GRCm39) |
F427L |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,803,388 (GRCm39) |
D1664V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm6686 |
G |
A |
17: 15,786,577 (GRCm39) |
|
probably benign |
Het |
| Grik4 |
C |
A |
9: 42,477,594 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
G |
A |
17: 34,313,056 (GRCm39) |
|
probably null |
Het |
| Iigp1c |
A |
G |
18: 60,379,554 (GRCm39) |
E363G |
probably benign |
Het |
| Il20ra |
T |
G |
10: 19,635,019 (GRCm39) |
L420R |
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 189,072,227 (GRCm39) |
S34P |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,955,173 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,585,903 (GRCm39) |
Y401C |
probably damaging |
Het |
| Lrrc59 |
T |
C |
11: 94,534,342 (GRCm39) |
V300A |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,167,698 (GRCm39) |
D1094E |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,331,169 (GRCm39) |
I1230N |
possibly damaging |
Het |
| Or55b3 |
A |
G |
7: 102,126,373 (GRCm39) |
S235P |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,985,587 (GRCm39) |
T146A |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,753,478 (GRCm39) |
V221A |
probably damaging |
Het |
| Ptprm |
G |
A |
17: 66,997,544 (GRCm39) |
A1184V |
probably damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,310,383 (GRCm39) |
K260N |
possibly damaging |
Het |
| Rbm28 |
T |
A |
6: 29,128,584 (GRCm39) |
D46V |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 141,938,785 (GRCm39) |
Y403H |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,968,353 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,894,231 (GRCm39) |
K803* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,851 (GRCm39) |
I674F |
possibly damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,545 (GRCm39) |
D176V |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 7,950,115 (GRCm39) |
|
probably null |
Het |
| Xdh |
A |
T |
17: 74,241,850 (GRCm39) |
C150S |
probably damaging |
Het |
| Xpo5 |
G |
T |
17: 46,513,855 (GRCm39) |
M3I |
probably benign |
Het |
|
| Other mutations in Ptchd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Ptchd4
|
APN |
17 |
42,627,817 (GRCm39) |
nonsense |
probably null |
|
|
IGL01360:Ptchd4
|
APN |
17 |
42,627,936 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01814:Ptchd4
|
APN |
17 |
42,814,177 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01885:Ptchd4
|
APN |
17 |
42,814,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02371:Ptchd4
|
APN |
17 |
42,627,865 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02480:Ptchd4
|
APN |
17 |
42,813,431 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02507:Ptchd4
|
APN |
17 |
42,627,764 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02593:Ptchd4
|
APN |
17 |
42,628,037 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02861:Ptchd4
|
APN |
17 |
42,688,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Ptchd4
|
APN |
17 |
42,813,340 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03384:Ptchd4
|
APN |
17 |
42,813,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Ptchd4
|
UTSW |
17 |
42,813,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Ptchd4
|
UTSW |
17 |
42,627,999 (GRCm39) |
nonsense |
probably null |
|
|
R0243:Ptchd4
|
UTSW |
17 |
42,814,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Ptchd4
|
UTSW |
17 |
42,688,150 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0513:Ptchd4
|
UTSW |
17 |
42,814,637 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0630:Ptchd4
|
UTSW |
17 |
42,688,076 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0662:Ptchd4
|
UTSW |
17 |
42,813,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Ptchd4
|
UTSW |
17 |
42,688,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1433:Ptchd4
|
UTSW |
17 |
42,814,606 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1451:Ptchd4
|
UTSW |
17 |
42,813,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1522:Ptchd4
|
UTSW |
17 |
42,814,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Ptchd4
|
UTSW |
17 |
42,814,507 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1902:Ptchd4
|
UTSW |
17 |
42,814,507 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2135:Ptchd4
|
UTSW |
17 |
42,627,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3935:Ptchd4
|
UTSW |
17 |
42,814,380 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4184:Ptchd4
|
UTSW |
17 |
42,813,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4552:Ptchd4
|
UTSW |
17 |
42,813,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4573:Ptchd4
|
UTSW |
17 |
42,813,668 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5100:Ptchd4
|
UTSW |
17 |
42,814,567 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5640:Ptchd4
|
UTSW |
17 |
42,814,026 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6213:Ptchd4
|
UTSW |
17 |
42,688,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6704:Ptchd4
|
UTSW |
17 |
42,627,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7011:Ptchd4
|
UTSW |
17 |
42,814,759 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7017:Ptchd4
|
UTSW |
17 |
42,813,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Ptchd4
|
UTSW |
17 |
42,814,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Ptchd4
|
UTSW |
17 |
42,814,066 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8153:Ptchd4
|
UTSW |
17 |
42,814,787 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8220:Ptchd4
|
UTSW |
17 |
42,813,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8547:Ptchd4
|
UTSW |
17 |
42,813,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9072:Ptchd4
|
UTSW |
17 |
42,813,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9073:Ptchd4
|
UTSW |
17 |
42,813,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9205:Ptchd4
|
UTSW |
17 |
42,814,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9242:Ptchd4
|
UTSW |
17 |
42,627,604 (GRCm39) |
nonsense |
probably null |
|
|
R9687:Ptchd4
|
UTSW |
17 |
42,813,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Ptchd4
|
UTSW |
17 |
42,814,806 (GRCm39) |
makesense |
probably null |
|
|
R9718:Ptchd4
|
UTSW |
17 |
42,813,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0062:Ptchd4
|
UTSW |
17 |
42,688,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-05-07 |
Incidental Mutation