Incidental Mutation 'IGL02480:Ptchd4'
| ID |
295162 |
| 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 # |
IGL02480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42813431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 444
(C444F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
| AlphaFold |
B9EKX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048691
AA Change: C444F
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: C444F
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
| Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
| Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
| Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
| Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
| Cyp3a44 |
C |
T |
5: 145,731,715 (GRCm39) |
E144K |
possibly damaging |
Het |
| Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| Eml1 |
C |
A |
12: 108,487,955 (GRCm39) |
Q556K |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
| Entr1 |
T |
A |
2: 26,275,132 (GRCm39) |
H342L |
probably damaging |
Het |
| Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
| Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
| Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
| Gucy1a1 |
C |
T |
3: 82,005,040 (GRCm39) |
V582M |
probably damaging |
Het |
| Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
| Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
| Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
| Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
| Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
| Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
| Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
| Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
| Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
| Poli |
T |
C |
18: 70,658,477 (GRCm39) |
T86A |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,136 (GRCm39) |
R528H |
probably damaging |
Het |
| Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
| Rho |
A |
G |
6: 115,912,505 (GRCm39) |
N123S |
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
| Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
| Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
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 |
|
|
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation