Incidental Mutation 'IGL01323:Jade2'
| ID |
74132 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jade2
|
| Ensembl Gene |
ENSMUSG00000020387 |
| Gene Name |
jade family PHD finger 2 |
| Synonyms |
1200017K05Rik, Phf15 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
51704282-51748480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51716165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 347
(T347A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020655]
[ENSMUST00000109090]
[ENSMUST00000109091]
|
| AlphaFold |
Q6ZQF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020655
AA Change: T347A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: T347A
| 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 |
possibly damaging
Transcript: ENSMUST00000109090
AA Change: T347A
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387
AA Change: T347A
| 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 |
possibly damaging
Transcript: ENSMUST00000109091
AA Change: T347A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: T347A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
| Ascl2 |
A |
G |
7: 142,522,125 (GRCm39) |
S108P |
probably benign |
Het |
| B3gat1 |
T |
C |
9: 26,667,206 (GRCm39) |
V146A |
possibly damaging |
Het |
| Barhl1 |
C |
T |
2: 28,805,558 (GRCm39) |
S45N |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,929,920 (GRCm39) |
A2370V |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,766,602 (GRCm39) |
D67G |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,762,086 (GRCm39) |
T171A |
probably benign |
Het |
| Ccdc77 |
T |
C |
6: 120,311,757 (GRCm39) |
Q247R |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,801,118 (GRCm39) |
V100D |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,739,612 (GRCm39) |
T3A |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,484,038 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
C |
3: 82,937,518 (GRCm39) |
S132P |
probably damaging |
Het |
| Gpr6 |
T |
A |
10: 40,947,555 (GRCm39) |
N9I |
possibly damaging |
Het |
| Gvin2 |
A |
G |
7: 105,546,009 (GRCm39) |
S2348P |
possibly damaging |
Het |
| Hacd3 |
A |
G |
9: 64,905,587 (GRCm39) |
F184L |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,413,819 (GRCm39) |
I132T |
possibly damaging |
Het |
| Igfbp7 |
A |
G |
5: 77,499,884 (GRCm39) |
|
probably benign |
Het |
| Ighv8-6 |
T |
C |
12: 115,129,477 (GRCm39) |
D93G |
possibly damaging |
Het |
| Izumo3 |
A |
G |
4: 92,034,627 (GRCm39) |
|
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,128,787 (GRCm39) |
T419A |
probably benign |
Het |
| Krt34 |
A |
G |
11: 99,929,606 (GRCm39) |
S267P |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,828,716 (GRCm39) |
K383Q |
probably damaging |
Het |
| Lgals7 |
G |
T |
7: 28,564,989 (GRCm39) |
E42D |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,356,293 (GRCm39) |
V493A |
possibly damaging |
Het |
| Mtif2 |
T |
A |
11: 29,491,447 (GRCm39) |
S557R |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,545,320 (GRCm39) |
F83I |
probably benign |
Het |
| Oosp2 |
A |
G |
19: 11,624,825 (GRCm39) |
L155S |
probably damaging |
Het |
| Or1o1 |
G |
T |
17: 37,717,031 (GRCm39) |
M197I |
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,943,760 (GRCm39) |
T1180S |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,089,498 (GRCm39) |
F79I |
possibly damaging |
Het |
| Prph |
G |
A |
15: 98,956,517 (GRCm39) |
S465N |
possibly damaging |
Het |
| Purg |
A |
T |
8: 33,876,631 (GRCm39) |
I90L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,037,136 (GRCm39) |
Q305K |
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,144,280 (GRCm39) |
S816N |
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| Tmem201 |
G |
A |
4: 149,804,045 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
G |
A |
7: 143,197,111 (GRCm39) |
P76L |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,591,600 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
G |
11: 9,086,100 (GRCm39) |
*312W |
probably null |
Het |
| Wdfy3 |
G |
T |
5: 102,042,930 (GRCm39) |
S1940R |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,469,335 (GRCm39) |
Y804C |
probably damaging |
Het |
| Xrn2 |
C |
T |
2: 146,876,767 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,354,945 (GRCm39) |
D1275E |
possibly damaging |
Het |
|
| Other mutations in Jade2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5657:Jade2
|
UTSW |
11 |
51,707,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation