Incidental Mutation 'R5100:Ptchd4'
| ID |
388240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptchd4
|
| Ensembl Gene |
ENSMUSG00000042256 |
| Gene Name |
patched domain containing 4 |
| Synonyms |
3110082D06Rik |
| MMRRC Submission |
042689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R5100 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
42626838-42815968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42814567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 823
(I823F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
| AlphaFold |
B9EKX1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048691
AA Change: I823F
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: I823F
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,477 (GRCm39) |
M774K |
probably damaging |
Het |
| Adamts3 |
G |
A |
5: 89,856,502 (GRCm39) |
T357I |
probably damaging |
Het |
| Ap3m2 |
T |
A |
8: 23,279,404 (GRCm39) |
M408L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,833,149 (GRCm39) |
N1116K |
probably benign |
Het |
| Arhgap31 |
A |
T |
16: 38,421,821 (GRCm39) |
I1415N |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,530,963 (GRCm39) |
D1374E |
possibly damaging |
Het |
| Asxl1 |
C |
G |
2: 153,239,851 (GRCm39) |
N546K |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,956,245 (GRCm39) |
T337S |
probably benign |
Het |
| Depdc1a |
A |
T |
3: 159,221,157 (GRCm39) |
I163L |
probably benign |
Het |
| Flrt3 |
T |
A |
2: 140,513,304 (GRCm39) |
|
probably null |
Het |
| Foxn4 |
A |
T |
5: 114,394,820 (GRCm39) |
L369H |
possibly damaging |
Het |
| Gm11992 |
T |
C |
11: 9,011,290 (GRCm39) |
S244P |
probably damaging |
Het |
| Gm14412 |
C |
T |
2: 177,006,908 (GRCm39) |
C329Y |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm5113 |
G |
A |
7: 29,878,076 (GRCm39) |
V55M |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,269,986 (GRCm39) |
I599T |
probably benign |
Het |
| H2-Q6 |
G |
C |
17: 35,644,296 (GRCm39) |
E93Q |
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,156,843 (GRCm39) |
T570A |
probably damaging |
Het |
| Hspb8 |
T |
C |
5: 116,553,468 (GRCm39) |
I143M |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,821,059 (GRCm39) |
T655A |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Lrit1 |
T |
A |
14: 36,784,171 (GRCm39) |
C500S |
possibly damaging |
Het |
| Macf1 |
A |
C |
4: 123,368,261 (GRCm39) |
C602G |
probably benign |
Het |
| Mesd |
C |
T |
7: 83,546,977 (GRCm39) |
R147C |
probably damaging |
Het |
| Mfge8 |
A |
T |
7: 78,793,048 (GRCm39) |
D139E |
probably benign |
Het |
| Ncoa3 |
G |
A |
2: 165,892,017 (GRCm39) |
R131Q |
probably damaging |
Het |
| Ncoa5 |
A |
G |
2: 164,851,309 (GRCm39) |
I188T |
probably damaging |
Het |
| Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,897 (GRCm39) |
H120R |
probably benign |
Het |
| Otos |
T |
A |
1: 92,572,107 (GRCm39) |
H73L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,492,499 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
C |
3: 30,976,348 (GRCm39) |
E740G |
possibly damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,922,267 (GRCm39) |
L382P |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,969,175 (GRCm39) |
R264L |
probably benign |
Het |
| Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,364,463 (GRCm39) |
R828G |
probably damaging |
Het |
| Spred2 |
T |
A |
11: 19,971,291 (GRCm39) |
C386* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,221,805 (GRCm39) |
L165* |
probably null |
Het |
| Tgm2 |
A |
T |
2: 157,969,084 (GRCm39) |
S430R |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,929,902 (GRCm39) |
I2879F |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,896,130 (GRCm39) |
V977G |
probably damaging |
Het |
| Wnt5b |
A |
C |
6: 119,417,449 (GRCm39) |
S139A |
probably benign |
Het |
| Zfp820 |
C |
A |
17: 22,040,054 (GRCm39) |
V52L |
possibly damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,326,832 (GRCm39) |
R764* |
probably null |
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 |
|
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 |
|
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'- TGGAATGTCGACATGGATTGC -3'
(R):5'- ACGTGATCAGGGTTCTCTTG -3'
Sequencing Primer
(F):5'- GAATGTCGACATGGATTGCATTTC -3'
(R):5'- ATCAGGGTTCTCTTGGATTTCTATGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation