Incidental Mutation 'R5278:Jade1'
ID |
404034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jade1
|
Ensembl Gene |
ENSMUSG00000025764 |
Gene Name |
jade family PHD finger 1 |
Synonyms |
Phf17, D530048A03Rik |
MMRRC Submission |
042865-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5278 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
41510169-41571299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 41543444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 43
(R43L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026865]
[ENSMUST00000163764]
[ENSMUST00000168086]
[ENSMUST00000170711]
[ENSMUST00000191952]
[ENSMUST00000194181]
[ENSMUST00000195846]
|
AlphaFold |
Q6ZPI0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026865
AA Change: R43L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000026865 Gene: ENSMUSG00000025764 AA Change: R43L
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
31 |
182 |
5.3e-23 |
PFAM |
PHD
|
206 |
252 |
1.91e-10 |
SMART |
PHD
|
315 |
370 |
1.31e-8 |
SMART |
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
low complexity region
|
817 |
831 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163764
AA Change: R43L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128152 Gene: ENSMUSG00000025764 AA Change: R43L
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
31 |
182 |
5.3e-23 |
PFAM |
PHD
|
206 |
252 |
1.91e-10 |
SMART |
PHD
|
315 |
370 |
1.31e-8 |
SMART |
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
low complexity region
|
817 |
831 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168086
AA Change: R43L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131441 Gene: ENSMUSG00000025764 AA Change: R43L
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
31 |
182 |
5.3e-23 |
PFAM |
PHD
|
206 |
252 |
1.91e-10 |
SMART |
PHD
|
315 |
370 |
1.31e-8 |
SMART |
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
low complexity region
|
817 |
831 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170711
AA Change: R43L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127113 Gene: ENSMUSG00000025764 AA Change: R43L
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
5 |
182 |
1.5e-9 |
PFAM |
PHD
|
206 |
252 |
1.91e-10 |
SMART |
PHD
|
315 |
370 |
1.31e-8 |
SMART |
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
low complexity region
|
817 |
831 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191921
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191952
AA Change: R43L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141499 Gene: ENSMUSG00000025764 AA Change: R43L
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
30 |
182 |
2.3e-23 |
PFAM |
PHD
|
206 |
252 |
1.91e-10 |
SMART |
PHD
|
315 |
370 |
1.31e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193080
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194181
AA Change: R43L
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000141670 Gene: ENSMUSG00000025764 AA Change: R43L
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194348
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195846
AA Change: R43L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141711 Gene: ENSMUSG00000025764 AA Change: R43L
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
29 |
152 |
6e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195200
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195322
|
Meta Mutation Damage Score |
0.0904 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
Validation Efficiency |
98% (50/51) |
MGI Phenotype |
PHENOTYPE: Though mice homozygous for mutations of this locus show no overt phenotype at birth, fewer survive to weaning than expected by Mendelian ratios. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
Alcam |
A |
G |
16: 52,094,638 (GRCm39) |
I371T |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
Asl |
A |
G |
5: 130,047,672 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
T |
A |
4: 140,728,129 (GRCm39) |
I574N |
probably damaging |
Het |
Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
Chpf2 |
T |
A |
5: 24,793,088 (GRCm39) |
|
probably benign |
Het |
Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
Ddx46 |
A |
G |
13: 55,823,851 (GRCm39) |
E915G |
probably damaging |
Het |
Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
Mettl8 |
A |
T |
2: 70,803,641 (GRCm39) |
D262E |
probably damaging |
Het |
Mrpl48 |
A |
G |
7: 100,201,790 (GRCm39) |
V156A |
probably damaging |
Het |
Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
Slc15a4 |
A |
T |
5: 127,694,033 (GRCm39) |
V134E |
probably damaging |
Het |
Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
probably benign |
Het |
|
Other mutations in Jade1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01482:Jade1
|
APN |
3 |
41,567,937 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01564:Jade1
|
APN |
3 |
41,551,084 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02428:Jade1
|
APN |
3 |
41,568,374 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03080:Jade1
|
APN |
3 |
41,554,510 (GRCm39) |
nonsense |
probably null |
|
R0763:Jade1
|
UTSW |
3 |
41,568,218 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1539:Jade1
|
UTSW |
3 |
41,559,431 (GRCm39) |
missense |
probably benign |
0.00 |
R1576:Jade1
|
UTSW |
3 |
41,546,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Jade1
|
UTSW |
3 |
41,567,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Jade1
|
UTSW |
3 |
41,559,143 (GRCm39) |
missense |
probably benign |
|
R2255:Jade1
|
UTSW |
3 |
41,546,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R2843:Jade1
|
UTSW |
3 |
41,559,280 (GRCm39) |
missense |
probably damaging |
0.98 |
R2962:Jade1
|
UTSW |
3 |
41,567,762 (GRCm39) |
missense |
probably benign |
|
R3963:Jade1
|
UTSW |
3 |
41,555,845 (GRCm39) |
missense |
probably damaging |
0.98 |
R4753:Jade1
|
UTSW |
3 |
41,551,106 (GRCm39) |
nonsense |
probably null |
|
R4971:Jade1
|
UTSW |
3 |
41,555,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Jade1
|
UTSW |
3 |
41,568,413 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5384:Jade1
|
UTSW |
3 |
41,546,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Jade1
|
UTSW |
3 |
41,546,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5531:Jade1
|
UTSW |
3 |
41,567,946 (GRCm39) |
missense |
probably benign |
0.27 |
R5566:Jade1
|
UTSW |
3 |
41,559,338 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5776:Jade1
|
UTSW |
3 |
41,568,227 (GRCm39) |
missense |
probably benign |
0.27 |
R6299:Jade1
|
UTSW |
3 |
41,568,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R6520:Jade1
|
UTSW |
3 |
41,558,917 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7481:Jade1
|
UTSW |
3 |
41,559,125 (GRCm39) |
missense |
probably benign |
|
R7951:Jade1
|
UTSW |
3 |
41,546,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R8006:Jade1
|
UTSW |
3 |
41,568,124 (GRCm39) |
missense |
probably benign |
|
R8175:Jade1
|
UTSW |
3 |
41,567,723 (GRCm39) |
missense |
probably benign |
0.27 |
R8382:Jade1
|
UTSW |
3 |
41,519,369 (GRCm39) |
splice site |
probably null |
|
R8493:Jade1
|
UTSW |
3 |
41,559,113 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8985:Jade1
|
UTSW |
3 |
41,568,148 (GRCm39) |
missense |
probably benign |
0.05 |
R9018:Jade1
|
UTSW |
3 |
41,564,292 (GRCm39) |
missense |
probably benign |
0.09 |
R9679:Jade1
|
UTSW |
3 |
41,567,569 (GRCm39) |
missense |
probably damaging |
0.98 |
X0026:Jade1
|
UTSW |
3 |
41,567,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCTCTTGACAGCTCAGTGAC -3'
(R):5'- TGCAACAAGGCACACATCTG -3'
Sequencing Primer
(F):5'- TGACTTTCTGAGACAAGGCC -3'
(R):5'- AAGGCACACATCTGCTTCTC -3'
|
Posted On |
2016-07-22 |