Incidental Mutation 'R4552:Ptchd4'
| ID |
334038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptchd4
|
| Ensembl Gene |
ENSMUSG00000042256 |
| Gene Name |
patched domain containing 4 |
| Synonyms |
3110082D06Rik |
| MMRRC Submission |
041783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R4552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42813346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 416
(I416L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
| AlphaFold |
B9EKX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048691
AA Change: I416L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: I416L
| 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 |
|
| Meta Mutation Damage Score |
0.1173 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,218,533 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
| Camta1 |
T |
C |
4: 151,876,959 (GRCm39) |
R79G |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,260,936 (GRCm39) |
E309G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,071,789 (GRCm39) |
T100A |
probably benign |
Het |
| Dalrd3 |
A |
G |
9: 108,449,429 (GRCm39) |
D454G |
possibly damaging |
Het |
| Ddx19a |
G |
A |
8: 111,705,198 (GRCm39) |
Q308* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,359,047 (GRCm39) |
N395S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,943,769 (GRCm39) |
D3125G |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,397,300 (GRCm39) |
V3331A |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,361,578 (GRCm39) |
Y677C |
probably damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Hid1 |
G |
A |
11: 115,249,505 (GRCm39) |
T240M |
possibly damaging |
Het |
| Igbp1b |
T |
A |
6: 138,635,112 (GRCm39) |
M111L |
probably benign |
Het |
| Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
| Klk4 |
C |
A |
7: 43,533,443 (GRCm39) |
H101N |
probably benign |
Het |
| Mrgpra2b |
C |
A |
7: 47,113,754 (GRCm39) |
S300I |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,385,938 (GRCm39) |
|
probably null |
Het |
| Nif3l1 |
C |
T |
1: 58,488,483 (GRCm39) |
|
probably benign |
Het |
| Noct |
T |
A |
3: 51,157,589 (GRCm39) |
I309N |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,856,844 (GRCm39) |
T600S |
probably benign |
Het |
| Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or1m1 |
A |
G |
9: 18,666,430 (GRCm39) |
V167A |
possibly damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,777 (GRCm39) |
M180L |
probably benign |
Het |
| Or6c217 |
T |
C |
10: 129,737,992 (GRCm39) |
M196V |
probably benign |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,285 (GRCm39) |
S1141P |
unknown |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Ppargc1a |
C |
T |
5: 51,620,557 (GRCm39) |
|
probably benign |
Het |
| Rhpn1 |
G |
A |
15: 75,585,968 (GRCm39) |
R627H |
probably benign |
Het |
| Ric8a |
G |
A |
7: 140,441,250 (GRCm39) |
G182S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,443,718 (GRCm39) |
D895G |
probably damaging |
Het |
| Rrp1b |
G |
A |
17: 32,274,984 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
T |
A |
2: 119,561,210 (GRCm39) |
D636E |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,354,523 (GRCm39) |
D333G |
probably benign |
Het |
| Sema6a |
A |
G |
18: 47,424,990 (GRCm39) |
L207P |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,799,779 (GRCm39) |
Y160* |
probably null |
Het |
| Slc27a1 |
A |
T |
8: 72,032,710 (GRCm39) |
|
probably null |
Het |
| Ston2 |
C |
T |
12: 91,608,646 (GRCm39) |
R818Q |
probably damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Tjap1 |
A |
T |
17: 46,570,953 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,667 (GRCm39) |
D64G |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,525,055 (GRCm39) |
D31V |
probably benign |
Het |
| Vmn2r-ps41 |
A |
T |
7: 9,180,063 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- AAGTCCATTTGAACCATAGGAGG -3'
(R):5'- GGTCCAGGTATTCTGCAGAAG -3'
Sequencing Primer
(F):5'- TTTCTCTTAACATTAGGTCATGGAAC -3'
(R):5'- TTCTGCAGAAGGGATCTTACAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation