Incidental Mutation 'IGL01360:Ptchd4'
ID |
75706 |
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 # |
IGL01360
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 42627936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 132
(H132Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
AlphaFold |
B9EKX1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048691
AA Change: H132Q
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000047640 Gene: ENSMUSG00000042256 AA Change: H132Q
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,325,648 (GRCm39) |
I1517L |
possibly damaging |
Het |
Akap12 |
A |
T |
10: 4,307,537 (GRCm39) |
D1449V |
probably benign |
Het |
Alg6 |
T |
A |
4: 99,630,643 (GRCm39) |
Y161N |
probably benign |
Het |
Arhgap45 |
A |
T |
10: 79,864,482 (GRCm39) |
|
probably benign |
Het |
Arhgap5 |
A |
T |
12: 52,565,023 (GRCm39) |
I665F |
probably damaging |
Het |
Bbs4 |
A |
G |
9: 59,247,131 (GRCm39) |
V123A |
possibly damaging |
Het |
Carm1 |
C |
T |
9: 21,498,598 (GRCm39) |
T480I |
probably benign |
Het |
Catsperb |
G |
A |
12: 101,591,513 (GRCm39) |
V1032M |
probably damaging |
Het |
Cdc42bpb |
A |
C |
12: 111,308,509 (GRCm39) |
I101S |
probably damaging |
Het |
Copa |
C |
A |
1: 171,915,155 (GRCm39) |
|
probably null |
Het |
Cramp1 |
T |
C |
17: 25,216,547 (GRCm39) |
I189V |
probably damaging |
Het |
Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
Egf |
A |
T |
3: 129,533,669 (GRCm39) |
F57Y |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
Gm14178 |
A |
G |
11: 99,638,269 (GRCm39) |
S37P |
unknown |
Het |
Gpbp1 |
A |
T |
13: 111,563,075 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
C |
9: 66,390,981 (GRCm39) |
S3980P |
probably benign |
Het |
Itga6 |
T |
C |
2: 71,617,670 (GRCm39) |
|
probably null |
Het |
Itgb4 |
T |
C |
11: 115,881,766 (GRCm39) |
S772P |
probably damaging |
Het |
Kcng4 |
C |
A |
8: 120,352,416 (GRCm39) |
G498V |
probably benign |
Het |
Lrp1 |
T |
G |
10: 127,381,689 (GRCm39) |
D3795A |
possibly damaging |
Het |
Lrrk2 |
T |
A |
15: 91,584,772 (GRCm39) |
|
probably null |
Het |
Mettl25 |
A |
T |
10: 105,659,058 (GRCm39) |
H408Q |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,307,505 (GRCm39) |
E457G |
probably damaging |
Het |
Mpl |
G |
A |
4: 118,312,858 (GRCm39) |
T158I |
possibly damaging |
Het |
Mtg2 |
C |
T |
2: 179,725,870 (GRCm39) |
T160I |
probably damaging |
Het |
Mtif2 |
A |
G |
11: 29,480,110 (GRCm39) |
I59V |
probably benign |
Het |
Ncapg |
C |
A |
5: 45,831,727 (GRCm39) |
S191* |
probably null |
Het |
Nup214 |
T |
C |
2: 31,928,190 (GRCm39) |
|
probably benign |
Het |
Or9m1 |
T |
C |
2: 87,733,871 (GRCm39) |
T50A |
probably benign |
Het |
Phf3 |
T |
A |
1: 30,847,809 (GRCm39) |
T1245S |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,250,770 (GRCm39) |
D443G |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,797,665 (GRCm39) |
D21V |
possibly damaging |
Het |
Pum1 |
T |
C |
4: 130,455,481 (GRCm39) |
|
probably benign |
Het |
Slc30a7 |
A |
T |
3: 115,783,765 (GRCm39) |
V136E |
probably damaging |
Het |
Slc5a10 |
A |
G |
11: 61,605,962 (GRCm39) |
V116A |
probably damaging |
Het |
Sos2 |
A |
T |
12: 69,637,574 (GRCm39) |
S1046T |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,116,554 (GRCm39) |
S899P |
possibly damaging |
Het |
Tfr2 |
G |
A |
5: 137,569,953 (GRCm39) |
V120I |
probably benign |
Het |
Tnfrsf18 |
A |
T |
4: 156,112,493 (GRCm39) |
R117* |
probably null |
Het |
Trmt9b |
A |
G |
8: 36,979,713 (GRCm39) |
I439V |
probably benign |
Het |
Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
Vmn2r112 |
T |
C |
17: 22,837,603 (GRCm39) |
M688T |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,525,510 (GRCm39) |
D389E |
possibly damaging |
Het |
Zpld1 |
T |
G |
16: 55,046,748 (GRCm39) |
N407T |
probably benign |
Het |
Zranb3 |
C |
T |
1: 127,887,622 (GRCm39) |
W935* |
probably null |
Het |
Zyx |
G |
A |
6: 42,327,378 (GRCm39) |
R59Q |
probably damaging |
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 |
|
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 |
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 |
2013-10-07 |