Incidental Mutation 'R5657:Jade2'
| ID |
442392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jade2
|
| Ensembl Gene |
ENSMUSG00000020387 |
| Gene Name |
jade family PHD finger 2 |
| Synonyms |
1200017K05Rik, Phf15 |
| MMRRC Submission |
043171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51704282-51748480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51707814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 800
(S800P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020655]
[ENSMUST00000109090]
[ENSMUST00000109091]
|
| AlphaFold |
Q6ZQF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020655
AA Change: S800P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: S800P
| 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 damaging
Transcript: ENSMUST00000109091
AA Change: S800P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: S800P
| 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: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,390 (GRCm39) |
Y533C |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,991,979 (GRCm39) |
V4421A |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,173 (GRCm39) |
K238R |
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,580,577 (GRCm39) |
V12D |
probably benign |
Het |
| Clca3b |
C |
A |
3: 144,533,144 (GRCm39) |
L629F |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,431 (GRCm39) |
I292V |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,143,547 (GRCm39) |
S412P |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,949,397 (GRCm39) |
I746T |
probably damaging |
Het |
| Cracr2a |
G |
A |
6: 127,580,970 (GRCm39) |
A49T |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,108,008 (GRCm39) |
I28T |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,847,352 (GRCm39) |
M4264L |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,105,736 (GRCm39) |
L412S |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,371,785 (GRCm39) |
N150S |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,050,805 (GRCm39) |
C854R |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,507 (GRCm39) |
Y522* |
probably null |
Het |
| Foxm1 |
A |
T |
6: 128,350,351 (GRCm39) |
S551C |
possibly damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,150 (GRCm39) |
V136A |
possibly damaging |
Het |
| Gm6647 |
T |
G |
5: 13,818,835 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
A |
6: 135,710,085 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,534,313 (GRCm39) |
V2987A |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,366 (GRCm39) |
N195S |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,003,238 (GRCm39) |
E529G |
possibly damaging |
Het |
| Plppr2 |
T |
C |
9: 21,858,911 (GRCm39) |
C343R |
probably damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,621 (GRCm39) |
D219G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,346,204 (GRCm39) |
E122K |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,472,416 (GRCm39) |
M38V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,738,358 (GRCm39) |
M39V |
possibly damaging |
Het |
| Rsf1 |
GC |
GCGGCGGCGTC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Slc26a10 |
T |
C |
10: 127,010,833 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
A |
15: 79,612,150 (GRCm39) |
E510* |
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,665,051 (GRCm39) |
|
probably null |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tor1aip1 |
G |
T |
1: 155,883,234 (GRCm39) |
H205N |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,609,808 (GRCm39) |
T92I |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,178 (GRCm39) |
F36I |
probably benign |
Het |
| Zfp787 |
T |
C |
7: 6,136,053 (GRCm39) |
Y66C |
probably damaging |
Het |
|
| Other mutations in Jade2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Jade2
|
APN |
11 |
51,716,165 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01935:Jade2
|
APN |
11 |
51,719,211 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02885:Jade2
|
APN |
11 |
51,722,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02987:Jade2
|
APN |
11 |
51,721,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Jade2
|
APN |
11 |
51,722,074 (GRCm39) |
splice site |
probably benign |
|
|
IGL03172:Jade2
|
APN |
11 |
51,716,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Jade2
|
UTSW |
11 |
51,722,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Jade2
|
UTSW |
11 |
51,709,365 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3410:Jade2
|
UTSW |
11 |
51,708,050 (GRCm39) |
missense |
probably benign |
|
|
R3886:Jade2
|
UTSW |
11 |
51,721,326 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4846:Jade2
|
UTSW |
11 |
51,711,975 (GRCm39) |
missense |
probably benign |
|
|
R4916:Jade2
|
UTSW |
11 |
51,707,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5420:Jade2
|
UTSW |
11 |
51,709,434 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5446:Jade2
|
UTSW |
11 |
51,707,786 (GRCm39) |
missense |
probably benign |
|
|
R6031:Jade2
|
UTSW |
11 |
51,717,413 (GRCm39) |
nonsense |
probably null |
|
|
R6031:Jade2
|
UTSW |
11 |
51,717,413 (GRCm39) |
nonsense |
probably null |
|
|
R6116:Jade2
|
UTSW |
11 |
51,726,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7039:Jade2
|
UTSW |
11 |
51,719,186 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7270:Jade2
|
UTSW |
11 |
51,708,011 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7702:Jade2
|
UTSW |
11 |
51,707,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Jade2
|
UTSW |
11 |
51,708,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8054:Jade2
|
UTSW |
11 |
51,709,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8243:Jade2
|
UTSW |
11 |
51,708,045 (GRCm39) |
missense |
probably benign |
|
|
R8371:Jade2
|
UTSW |
11 |
51,715,959 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8984:Jade2
|
UTSW |
11 |
51,715,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Jade2
|
UTSW |
11 |
51,708,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Jade2
|
UTSW |
11 |
51,715,951 (GRCm39) |
missense |
probably benign |
|
|
R9143:Jade2
|
UTSW |
11 |
51,715,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Jade2
|
UTSW |
11 |
51,739,821 (GRCm39) |
missense |
probably null |
0.20 |
|
Z1177:Jade2
|
UTSW |
11 |
51,707,817 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTCAGCAGTTGGAAATGG -3'
(R):5'- GCCTCCGAGATACTAGACAAG -3'
Sequencing Primer
(F):5'- CTCAGCAGTTGGAAATGGCAGTTG -3'
(R):5'- TAAATGTCCAAGTGCCTGGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation