Incidental Mutation 'IGL02507:Ptchd4'
| ID |
296395 |
| 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 # |
IGL02507
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42627764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 75
(H75L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
| AlphaFold |
B9EKX1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048691
AA Change: H75L
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: H75L
| 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 |
|---|
| Abca13 |
A |
G |
11: 9,349,388 (GRCm39) |
Y3654C |
probably damaging |
Het |
| Aldh1l2 |
A |
C |
10: 83,328,448 (GRCm39) |
Y756* |
probably null |
Het |
| Arhgef12 |
T |
C |
9: 42,903,859 (GRCm39) |
E733G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 101,748,699 (GRCm39) |
M1K |
probably null |
Het |
| Atp1a2 |
A |
T |
1: 172,113,338 (GRCm39) |
D448E |
probably damaging |
Het |
| Atp6v1b1 |
C |
T |
6: 83,733,837 (GRCm39) |
T356I |
possibly damaging |
Het |
| Celsr1 |
A |
G |
15: 85,784,889 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,134,990 (GRCm39) |
Y686C |
probably damaging |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,901 (GRCm39) |
Y212* |
probably null |
Het |
| Chrnb1 |
T |
C |
11: 69,675,916 (GRCm39) |
Y442C |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,007 (GRCm39) |
|
probably benign |
Het |
| Clcn7 |
G |
A |
17: 25,363,443 (GRCm39) |
V40M |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,148,860 (GRCm39) |
Y369C |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 17,584,992 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
A |
T |
9: 24,542,563 (GRCm39) |
C446S |
probably benign |
Het |
| Edem3 |
G |
A |
1: 151,687,407 (GRCm39) |
E782K |
probably benign |
Het |
| Efcab15 |
T |
A |
11: 103,090,275 (GRCm39) |
Q287L |
probably damaging |
Het |
| Ephb3 |
T |
A |
16: 21,039,389 (GRCm39) |
|
probably benign |
Het |
| Fndc4 |
T |
C |
5: 31,452,090 (GRCm39) |
D109G |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,805,267 (GRCm39) |
V1303A |
possibly damaging |
Het |
| Gcn1 |
T |
C |
5: 115,723,940 (GRCm39) |
L532P |
probably benign |
Het |
| Gm5150 |
A |
G |
3: 16,017,485 (GRCm39) |
L262P |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,477,091 (GRCm39) |
|
probably benign |
Het |
| Krt74 |
A |
G |
15: 101,669,059 (GRCm39) |
|
noncoding transcript |
Het |
| Myo1a |
T |
C |
10: 127,548,478 (GRCm39) |
V375A |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,560,079 (GRCm39) |
Q1268L |
probably benign |
Het |
| Or4k42 |
G |
A |
2: 111,319,768 (GRCm39) |
T245M |
possibly damaging |
Het |
| Or51ag1 |
G |
T |
7: 103,155,925 (GRCm39) |
S76* |
probably null |
Het |
| Or5d16 |
G |
A |
2: 87,773,262 (GRCm39) |
R237* |
probably null |
Het |
| Or9s27 |
T |
C |
1: 92,516,648 (GRCm39) |
S199P |
possibly damaging |
Het |
| Pan3 |
T |
C |
5: 147,463,406 (GRCm39) |
S497P |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,390,264 (GRCm39) |
T138A |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,270,451 (GRCm39) |
|
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,461,055 (GRCm39) |
H455L |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,470,351 (GRCm39) |
E159V |
probably damaging |
Het |
| Rrn3 |
A |
G |
16: 13,606,721 (GRCm39) |
N109S |
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,108,157 (GRCm39) |
V1523D |
probably damaging |
Het |
| Sec23a |
A |
G |
12: 59,053,884 (GRCm39) |
V38A |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,602,021 (GRCm39) |
T92M |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,906,067 (GRCm39) |
D1671G |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,861,167 (GRCm39) |
|
probably benign |
Het |
| Stau2 |
A |
T |
1: 16,556,293 (GRCm39) |
I22N |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,708,410 (GRCm39) |
Y123* |
probably null |
Het |
| Tmem205 |
A |
G |
9: 21,837,607 (GRCm39) |
V13A |
possibly damaging |
Het |
| Trub1 |
G |
A |
19: 57,472,009 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,699 (GRCm39) |
V27398A |
possibly damaging |
Het |
| Vill |
A |
G |
9: 118,899,845 (GRCm39) |
E343G |
possibly damaging |
Het |
| Zgpat |
T |
C |
2: 181,008,029 (GRCm39) |
F189L |
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 |
|
IGL02480:Ptchd4
|
APN |
17 |
42,813,431 (GRCm39) |
missense |
probably benign |
0.38 |
|
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