Incidental Mutation 'IGL01885:Ptchd4'
ID |
179095 |
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: 0.120)
|
Stock # |
IGL01885
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42814493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 798
(T798I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
AlphaFold |
B9EKX1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048691
AA Change: T798I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047640 Gene: ENSMUSG00000042256 AA Change: T798I
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,774,575 (GRCm39) |
V568A |
possibly damaging |
Het |
Abcb11 |
T |
A |
2: 69,117,971 (GRCm39) |
Q469L |
probably damaging |
Het |
Ahsg |
G |
A |
16: 22,717,731 (GRCm39) |
G264E |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,697,862 (GRCm39) |
Y788C |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,911,511 (GRCm39) |
F1508I |
possibly damaging |
Het |
Cd6 |
C |
A |
19: 10,776,601 (GRCm39) |
Q141H |
probably benign |
Het |
Cercam |
A |
C |
2: 29,771,015 (GRCm39) |
T471P |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,337,301 (GRCm39) |
D729G |
possibly damaging |
Het |
Dglucy |
T |
A |
12: 100,816,540 (GRCm39) |
F394Y |
probably damaging |
Het |
E130308A19Rik |
A |
G |
4: 59,720,004 (GRCm39) |
N512S |
probably benign |
Het |
Ephb4 |
T |
C |
5: 137,356,059 (GRCm39) |
C223R |
probably damaging |
Het |
Gcn1 |
T |
A |
5: 115,714,174 (GRCm39) |
|
probably null |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hirip3 |
T |
A |
7: 126,463,381 (GRCm39) |
S446T |
probably benign |
Het |
Hoxa5 |
A |
T |
6: 52,179,647 (GRCm39) |
F243I |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
Lama2 |
G |
A |
10: 26,981,135 (GRCm39) |
R1840* |
probably null |
Het |
Lbp |
T |
A |
2: 158,166,493 (GRCm39) |
L349Q |
probably damaging |
Het |
Lrp4 |
T |
C |
2: 91,331,452 (GRCm39) |
I1604T |
probably benign |
Het |
Mapk10 |
T |
C |
5: 103,144,455 (GRCm39) |
K121E |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,578,521 (GRCm39) |
R1579* |
probably null |
Het |
Obscn |
T |
C |
11: 58,965,794 (GRCm39) |
D652G |
possibly damaging |
Het |
Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
Or5b117 |
G |
A |
19: 13,431,449 (GRCm39) |
T144I |
probably benign |
Het |
Or7g30 |
A |
G |
9: 19,352,760 (GRCm39) |
I184V |
probably benign |
Het |
Ostm1 |
C |
T |
10: 42,574,147 (GRCm39) |
S280L |
possibly damaging |
Het |
Peak1 |
C |
T |
9: 56,167,388 (GRCm39) |
R180K |
probably damaging |
Het |
Plcz1 |
T |
C |
6: 139,947,837 (GRCm39) |
Y515C |
probably benign |
Het |
Postn |
T |
C |
3: 54,283,455 (GRCm39) |
|
probably benign |
Het |
Rnf41 |
A |
T |
10: 128,271,344 (GRCm39) |
N85Y |
probably damaging |
Het |
Shisa7 |
A |
T |
7: 4,833,825 (GRCm39) |
H323Q |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,951,629 (GRCm39) |
M386K |
probably damaging |
Het |
St18 |
G |
A |
1: 6,914,596 (GRCm39) |
|
probably null |
Het |
Stra6 |
T |
A |
9: 58,048,431 (GRCm39) |
L175M |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,057,389 (GRCm39) |
L600P |
probably damaging |
Het |
Try5 |
G |
T |
6: 41,288,672 (GRCm39) |
N182K |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Xpo7 |
G |
A |
14: 70,903,475 (GRCm39) |
T1078I |
probably benign |
Het |
Zan |
G |
A |
5: 137,462,386 (GRCm39) |
T931I |
unknown |
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 |
IGL01929:Ptchd4
|
APN |
17 |
42,814,213 (GRCm39) |
missense |
probably benign |
0.02 |
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 |