Incidental Mutation 'R1004:Ptchd4'
| ID |
98007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptchd4
|
| Ensembl Gene |
ENSMUSG00000042256 |
| Gene Name |
patched domain containing 4 |
| Synonyms |
3110082D06Rik |
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R1004 (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 42688493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 345
(Y345F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048691]
|
| AlphaFold |
B9EKX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048691
AA Change: Y345F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: Y345F
| 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 |
0.1227 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,042,780 (GRCm39) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,780,386 (GRCm39) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,063,421 (GRCm39) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,337,034 (GRCm39) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,586 (GRCm39) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,302,306 (GRCm39) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,370 (GRCm39) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,558 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,888,671 (GRCm39) |
|
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dpp4 |
T |
A |
2: 62,162,984 (GRCm39) |
Q754L |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,653,550 (GRCm39) |
T100A |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm39) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,440,141 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,276,487 (GRCm39) |
L213P |
probably damaging |
Het |
| Hook1 |
A |
C |
4: 95,910,524 (GRCm39) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,516,642 (GRCm39) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 120,675,460 (GRCm39) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,378,353 (GRCm39) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,484,930 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,741,681 (GRCm39) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,342,350 (GRCm39) |
H102L |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,751,276 (GRCm39) |
F182S |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,789 (GRCm39) |
Q680L |
probably benign |
Het |
| Poli |
T |
A |
18: 70,658,509 (GRCm39) |
Q75L |
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,075,829 (GRCm39) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,436,529 (GRCm39) |
L11P |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,579,757 (GRCm39) |
N1233S |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,518,225 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,128,207 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,320,786 (GRCm39) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,763 (GRCm39) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,558 (GRCm39) |
D132E |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,422,937 (GRCm39) |
|
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,169 (GRCm39) |
L266Q |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,103 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCTGCCACACAAGACCTCATAG -3'
(R):5'- TGCAATAGGCAACAACACTCCTTGG -3'
Sequencing Primer
(F):5'- CTGGAGAGACTTTCATAAGACCAGC -3'
(R):5'- CCCAACAGGCAAGAATTCGA -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation