Incidental Mutation 'R3935:Ptchd4'
ID |
307152 |
Institutional Source |
Beutler Lab
|
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 # |
R3935 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 42814380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 760
(L760F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
AlphaFold |
B9EKX1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048691
AA Change: L760F
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000047640 Gene: ENSMUSG00000042256 AA Change: L760F
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
Fbxw8 |
T |
G |
5: 118,233,783 (GRCm39) |
I283L |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
Hoxd11 |
A |
G |
2: 74,514,376 (GRCm39) |
N302S |
probably benign |
Het |
Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
Lztr1 |
T |
A |
16: 17,340,059 (GRCm39) |
Y93* |
probably null |
Het |
Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
Prg4 |
A |
G |
1: 150,333,908 (GRCm39) |
I152T |
possibly damaging |
Het |
Prss36 |
A |
G |
7: 127,533,780 (GRCm39) |
L8P |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGGACAAGTTGAGGCCC -3'
(R):5'- TGTTTTGCAAAATGGCTGTCC -3'
Sequencing Primer
(F):5'- CTCAAAGAGTATCCGGTTCATCGTG -3'
(R):5'- GGCTGTCCCATGCTCTTG -3'
|
Posted On |
2015-04-17 |