Incidental Mutation 'R2962:Jade1'
ID |
255917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jade1
|
Ensembl Gene |
ENSMUSG00000025764 |
Gene Name |
jade family PHD finger 1 |
Synonyms |
Phf17, D530048A03Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2962 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
41510169-41571299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 41567762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 610
(T610S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026865]
[ENSMUST00000163764]
[ENSMUST00000168086]
[ENSMUST00000170711]
|
AlphaFold |
Q6ZPI0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026865
AA Change: T610S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026865 Gene: ENSMUSG00000025764 AA Change: T610S
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 |
probably benign
Transcript: ENSMUST00000163764
AA Change: T610S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128152 Gene: ENSMUSG00000025764 AA Change: T610S
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 |
probably benign
Transcript: ENSMUST00000168086
AA Change: T610S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131441 Gene: ENSMUSG00000025764 AA Change: T610S
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 |
probably benign
Transcript: ENSMUST00000170711
AA Change: T610S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127113 Gene: ENSMUSG00000025764 AA Change: T610S
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd24a |
A |
G |
10: 43,455,313 (GRCm39) |
T22A |
probably benign |
Het |
Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
Cog3 |
A |
G |
14: 75,977,974 (GRCm39) |
|
probably null |
Het |
Gm3371 |
A |
T |
14: 44,646,155 (GRCm39) |
N103K |
probably benign |
Het |
Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
Hoxc10 |
A |
G |
15: 102,875,735 (GRCm39) |
Y148C |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lhfpl7 |
T |
C |
5: 113,385,922 (GRCm39) |
V123A |
possibly damaging |
Het |
Malt1 |
A |
G |
18: 65,581,406 (GRCm39) |
H278R |
probably benign |
Het |
Mlxip |
C |
A |
5: 123,578,887 (GRCm39) |
R178S |
probably damaging |
Het |
Or13a25 |
A |
T |
7: 140,247,862 (GRCm39) |
M214L |
probably benign |
Het |
Pdxk |
A |
G |
10: 78,279,667 (GRCm39) |
L236P |
probably damaging |
Het |
Plekhg3 |
G |
A |
12: 76,619,433 (GRCm39) |
|
probably null |
Het |
Rufy2 |
G |
T |
10: 62,836,039 (GRCm39) |
V323F |
probably damaging |
Het |
Serpinb7 |
A |
G |
1: 107,379,456 (GRCm39) |
T288A |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,650,323 (GRCm39) |
C1628* |
probably null |
Het |
Tgtp2 |
A |
G |
11: 48,950,363 (GRCm39) |
S70P |
probably damaging |
Het |
Trank1 |
C |
T |
9: 111,181,148 (GRCm39) |
T390I |
probably damaging |
Het |
Trim31 |
T |
C |
17: 37,210,796 (GRCm39) |
S143P |
probably damaging |
Het |
Ube3c |
C |
A |
5: 29,863,416 (GRCm39) |
A897D |
possibly damaging |
Het |
Unc79 |
A |
T |
12: 103,061,378 (GRCm39) |
T1050S |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
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 |
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 |
R5278:Jade1
|
UTSW |
3 |
41,543,444 (GRCm39) |
missense |
possibly damaging |
0.84 |
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'- AAAACAAAGTGCTGCTGCTG -3'
(R):5'- AGATGCCTCTGGGATGTGTC -3'
Sequencing Primer
(F):5'- TCCGCACTGGAGAACATGC -3'
(R):5'- AGGCTTGTGACTCTGCTTAAAAG -3'
|
Posted On |
2014-12-29 |