Incidental Mutation 'R6116:Jade2'
ID |
485128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jade2
|
Ensembl Gene |
ENSMUSG00000020387 |
Gene Name |
jade family PHD finger 2 |
Synonyms |
1200017K05Rik, Phf15 |
MMRRC Submission |
044265-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6116 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
51704282-51748480 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51726460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 84
(E84G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020655]
[ENSMUST00000109090]
[ENSMUST00000109091]
|
AlphaFold |
Q6ZQF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020655
AA Change: E84G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020655 Gene: ENSMUSG00000020387 AA Change: E84G
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 damaging
Transcript: ENSMUST00000109090
AA Change: E84G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104718 Gene: ENSMUSG00000020387 AA Change: E84G
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: E84G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104719 Gene: ENSMUSG00000020387 AA Change: E84G
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,990,327 (GRCm39) |
|
probably benign |
Het |
Apc |
A |
T |
18: 34,449,508 (GRCm39) |
I2101F |
probably damaging |
Het |
Bpifa3 |
G |
A |
2: 153,975,633 (GRCm39) |
V68I |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,261,864 (GRCm39) |
I878F |
probably damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,605,879 (GRCm39) |
M339K |
probably damaging |
Het |
Dock3 |
A |
G |
9: 106,809,161 (GRCm39) |
Y1321H |
probably damaging |
Het |
Dsc1 |
G |
T |
18: 20,230,356 (GRCm39) |
D316E |
probably benign |
Het |
Eno3 |
C |
T |
11: 70,552,401 (GRCm39) |
T351M |
possibly damaging |
Het |
Erbb2 |
T |
A |
11: 98,318,225 (GRCm39) |
F487Y |
probably damaging |
Het |
Exosc10 |
T |
C |
4: 148,657,810 (GRCm39) |
L652P |
probably benign |
Het |
Glmn |
A |
T |
5: 107,705,206 (GRCm39) |
M470K |
probably damaging |
Het |
Gm15446 |
T |
A |
5: 110,090,902 (GRCm39) |
C385S |
probably damaging |
Het |
Hspa8 |
A |
G |
9: 40,716,271 (GRCm39) |
E581G |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,898,205 (GRCm39) |
D787G |
probably benign |
Het |
Igkv12-44 |
T |
C |
6: 69,791,838 (GRCm39) |
T42A |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,679,939 (GRCm39) |
|
probably benign |
Het |
Lpar3 |
T |
A |
3: 145,946,352 (GRCm39) |
M10K |
possibly damaging |
Het |
Lpin2 |
A |
G |
17: 71,550,925 (GRCm39) |
D695G |
probably damaging |
Het |
Mosmo |
T |
A |
7: 120,325,418 (GRCm39) |
L7H |
probably damaging |
Het |
Ms4a8a |
C |
T |
19: 11,058,436 (GRCm39) |
A9T |
unknown |
Het |
Myb |
T |
C |
10: 21,030,653 (GRCm39) |
D48G |
probably damaging |
Het |
Neurod6 |
T |
C |
6: 55,655,776 (GRCm39) |
Y287C |
probably damaging |
Het |
Olr1 |
T |
A |
6: 129,476,947 (GRCm39) |
D106V |
probably damaging |
Het |
Or11a4 |
A |
G |
17: 37,536,459 (GRCm39) |
T148A |
probably benign |
Het |
Or8b4 |
A |
G |
9: 37,829,955 (GRCm39) |
M1V |
probably null |
Het |
Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 45,004,127 (GRCm39) |
Y505C |
probably damaging |
Het |
Sdk2 |
T |
A |
11: 113,745,190 (GRCm39) |
I702F |
probably damaging |
Het |
Slc16a11 |
T |
C |
11: 70,106,262 (GRCm39) |
F119L |
probably benign |
Het |
Slc2a10 |
A |
C |
2: 165,359,623 (GRCm39) |
T496P |
probably damaging |
Het |
Slc7a2 |
T |
C |
8: 41,353,206 (GRCm39) |
Y181H |
probably damaging |
Het |
Spata31e5 |
G |
A |
1: 28,817,780 (GRCm39) |
A84V |
probably benign |
Het |
Stab2 |
G |
T |
10: 86,743,054 (GRCm39) |
P1185Q |
probably damaging |
Het |
Tcf7l2 |
T |
A |
19: 55,907,446 (GRCm39) |
S335R |
probably damaging |
Het |
Ttc41 |
G |
A |
10: 86,594,952 (GRCm39) |
|
probably null |
Het |
Vmn2r32 |
A |
T |
7: 7,467,092 (GRCm39) |
I812N |
probably damaging |
Het |
Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
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 |
|
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 |
|
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'- CCCAAAGCCTCATGGGTAAGTAA -3'
(R):5'- TGCTCCTCTGGCCTACGAA -3'
Sequencing Primer
(F):5'- GTTGTTCGGCAAGAGAATTAACCAC -3'
(R):5'- AAGCCGTCCTCTCTGAAGC -3'
|
Posted On |
2017-08-16 |