Incidental Mutation 'R5446:Jade2'
| ID |
429084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jade2
|
| Ensembl Gene |
ENSMUSG00000020387 |
| Gene Name |
jade family PHD finger 2 |
| Synonyms |
Phf15, 1200017K05Rik |
| MMRRC Submission |
043011-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51813455-51857653 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51816959 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 809
(V809A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020655]
[ENSMUST00000109090]
[ENSMUST00000109091]
|
| AlphaFold |
Q6ZQF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020655
AA Change: V809A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: V809A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EPL1
|
39 |
177 |
3.4e-17 |
PFAM |
|
PHD
|
201 |
247 |
1.35e-10 |
SMART |
|
PHD
|
310 |
365 |
1.74e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109090
|
| SMART Domains |
Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EPL1
|
39 |
177 |
2e-17 |
PFAM |
|
PHD
|
201 |
247 |
1.35e-10 |
SMART |
|
PHD
|
310 |
365 |
1.74e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109091
AA Change: V809A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: V809A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EPL1
|
2 |
176 |
9.6e-9 |
PFAM |
|
PHD
|
201 |
247 |
1.35e-10 |
SMART |
|
PHD
|
310 |
365 |
1.74e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
A |
G |
3: 89,740,179 (GRCm38) |
N155S |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,420,509 (GRCm38) |
D1417G |
possibly damaging |
Het |
| Ankrd52 |
G |
T |
10: 128,388,561 (GRCm38) |
C736F |
probably damaging |
Het |
| Arhgap15 |
T |
A |
2: 43,828,760 (GRCm38) |
H85Q |
probably benign |
Het |
| BC051142 |
T |
C |
17: 34,440,893 (GRCm38) |
|
probably null |
Het |
| Bcat2 |
G |
A |
7: 45,585,145 (GRCm38) |
R110H |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,846,200 (GRCm38) |
H4R |
possibly damaging |
Het |
| Cdh2 |
T |
C |
18: 16,646,627 (GRCm38) |
I126V |
probably damaging |
Het |
| Cnbd2 |
A |
C |
2: 156,367,661 (GRCm38) |
E508A |
possibly damaging |
Het |
| Crb2 |
T |
C |
2: 37,795,449 (GRCm38) |
I1191T |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,144,217 (GRCm38) |
T1075A |
probably benign |
Het |
| Edil3 |
A |
C |
13: 89,184,838 (GRCm38) |
H371P |
possibly damaging |
Het |
| Gm5134 |
T |
C |
10: 75,995,836 (GRCm38) |
S370P |
probably damaging |
Het |
| Gm9573 |
T |
A |
17: 35,622,503 (GRCm38) |
|
probably benign |
Het |
| Helz |
T |
C |
11: 107,632,204 (GRCm38) |
V737A |
probably damaging |
Het |
| Klhl23 |
T |
A |
2: 69,824,238 (GRCm38) |
C151S |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,571,067 (GRCm38) |
D276G |
probably null |
Het |
| Lipm |
C |
T |
19: 34,117,887 (GRCm38) |
A294V |
possibly damaging |
Het |
| Med13l |
A |
G |
5: 118,742,397 (GRCm38) |
N1185D |
possibly damaging |
Het |
| Mmp27 |
T |
A |
9: 7,573,515 (GRCm38) |
|
probably benign |
Het |
| Mroh2a |
A |
T |
1: 88,254,965 (GRCm38) |
N1205I |
possibly damaging |
Het |
| Npnt |
A |
G |
3: 132,908,369 (GRCm38) |
L191P |
probably damaging |
Het |
| Olfr1257 |
A |
T |
2: 89,881,549 (GRCm38) |
H241L |
probably damaging |
Het |
| Paip2b |
T |
C |
6: 83,814,862 (GRCm38) |
I13V |
probably benign |
Het |
| Pcdhac2 |
T |
A |
18: 37,145,200 (GRCm38) |
L411Q |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,720,636 (GRCm38) |
N266S |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,290,585 (GRCm38) |
T454A |
possibly damaging |
Het |
| Prkcg |
A |
T |
7: 3,330,264 (GRCm38) |
Y675F |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 139,255,150 (GRCm38) |
I169N |
probably damaging |
Het |
| Rreb1 |
G |
A |
13: 37,898,497 (GRCm38) |
R86H |
possibly damaging |
Het |
| Smok3c |
A |
C |
5: 138,064,633 (GRCm38) |
L127F |
probably damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,766,269 (GRCm38) |
M427L |
probably benign |
Het |
| Synm |
T |
C |
7: 67,735,974 (GRCm38) |
T205A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,618,250 (GRCm38) |
Y564C |
probably damaging |
Het |
| Vmn2r90 |
A |
C |
17: 17,712,202 (GRCm38) |
T124P |
probably damaging |
Het |
| Vpreb1 |
A |
T |
16: 16,868,690 (GRCm38) |
V112E |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,777,528 (GRCm38) |
L447S |
probably damaging |
Het |
| Zfp746 |
T |
C |
6: 48,064,173 (GRCm38) |
T539A |
probably damaging |
Het |
|
| Other mutations in Jade2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Jade2
|
APN |
11 |
51,825,338 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01935:Jade2
|
APN |
11 |
51,828,384 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02885:Jade2
|
APN |
11 |
51,831,296 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02987:Jade2
|
APN |
11 |
51,830,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02990:Jade2
|
APN |
11 |
51,831,247 (GRCm38) |
splice site |
probably benign |
|
|
IGL03172:Jade2
|
APN |
11 |
51,825,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0116:Jade2
|
UTSW |
11 |
51,831,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1917:Jade2
|
UTSW |
11 |
51,818,538 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3410:Jade2
|
UTSW |
11 |
51,817,223 (GRCm38) |
missense |
probably benign |
|
|
R3886:Jade2
|
UTSW |
11 |
51,830,499 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4846:Jade2
|
UTSW |
11 |
51,821,148 (GRCm38) |
missense |
probably benign |
|
|
R4916:Jade2
|
UTSW |
11 |
51,817,082 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5420:Jade2
|
UTSW |
11 |
51,818,607 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5657:Jade2
|
UTSW |
11 |
51,816,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6031:Jade2
|
UTSW |
11 |
51,826,586 (GRCm38) |
nonsense |
probably null |
|
|
R6031:Jade2
|
UTSW |
11 |
51,826,586 (GRCm38) |
nonsense |
probably null |
|
|
R6116:Jade2
|
UTSW |
11 |
51,835,633 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7039:Jade2
|
UTSW |
11 |
51,828,359 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7270:Jade2
|
UTSW |
11 |
51,817,184 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7702:Jade2
|
UTSW |
11 |
51,816,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7797:Jade2
|
UTSW |
11 |
51,817,299 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8054:Jade2
|
UTSW |
11 |
51,818,614 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8243:Jade2
|
UTSW |
11 |
51,817,218 (GRCm38) |
missense |
probably benign |
|
|
R8371:Jade2
|
UTSW |
11 |
51,825,132 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8984:Jade2
|
UTSW |
11 |
51,825,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9020:Jade2
|
UTSW |
11 |
51,817,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9135:Jade2
|
UTSW |
11 |
51,825,124 (GRCm38) |
missense |
probably benign |
|
|
R9143:Jade2
|
UTSW |
11 |
51,825,103 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Jade2
|
UTSW |
11 |
51,848,994 (GRCm38) |
missense |
probably null |
0.20 |
|
Z1177:Jade2
|
UTSW |
11 |
51,816,990 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATGTCCTAGGCCAGCACAG -3'
(R):5'- GAAGGTCAGTCGGAAATCTCC -3'
Sequencing Primer
(F):5'- CGGGGTGGAATTCAGAACTCTCTC -3'
(R):5'- AAATCTCCGGGTGCTAGATCC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation