Incidental Mutation 'IGL01564:Jade1'
ID |
90930 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01564
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
41510169-41571299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 41551084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 174
(R174S)
|
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: R174S
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026865 Gene: ENSMUSG00000025764 AA Change: R174S
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: R174S
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128152 Gene: ENSMUSG00000025764 AA Change: R174S
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: R174S
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131441 Gene: ENSMUSG00000025764 AA Change: R174S
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: R174S
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127113 Gene: ENSMUSG00000025764 AA Change: R174S
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: R174S
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141499 Gene: ENSMUSG00000025764 AA Change: R174S
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 |
probably benign
Transcript: ENSMUST00000192451
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194348
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193080
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194181
|
SMART Domains |
Protein: ENSMUSP00000141670 Gene: ENSMUSG00000025764
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195846
|
SMART Domains |
Protein: ENSMUSP00000141711 Gene: ENSMUSG00000025764
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
29 |
152 |
6e-12 |
PFAM |
|
Coding Region Coverage |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat3 |
T |
A |
10: 80,442,693 (GRCm39) |
M177K |
probably damaging |
Het |
Ankrd28 |
G |
T |
14: 31,477,724 (GRCm39) |
T48K |
probably damaging |
Het |
Capn3 |
T |
C |
2: 120,311,189 (GRCm39) |
I112T |
probably damaging |
Het |
Clec3a |
T |
A |
8: 115,152,282 (GRCm39) |
I96N |
probably damaging |
Het |
Clic4 |
C |
T |
4: 134,944,504 (GRCm39) |
A224T |
probably damaging |
Het |
Eif2b3 |
T |
C |
4: 116,885,739 (GRCm39) |
Y94H |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,516,665 (GRCm39) |
|
probably benign |
Het |
Errfi1 |
C |
A |
4: 150,951,487 (GRCm39) |
T305N |
probably damaging |
Het |
Fam131c |
T |
A |
4: 141,106,984 (GRCm39) |
|
probably null |
Het |
Fbxo11 |
G |
A |
17: 88,310,324 (GRCm39) |
T494I |
probably benign |
Het |
Homer2 |
T |
C |
7: 81,268,320 (GRCm39) |
|
probably null |
Het |
Hpf1 |
C |
A |
8: 61,343,513 (GRCm39) |
|
probably benign |
Het |
Hspa1b |
T |
C |
17: 35,176,525 (GRCm39) |
N487D |
probably benign |
Het |
Ikbke |
C |
A |
1: 131,185,658 (GRCm39) |
A617S |
probably benign |
Het |
Lcmt1 |
T |
C |
7: 123,003,663 (GRCm39) |
F139S |
probably benign |
Het |
Lipo2 |
T |
C |
19: 33,698,424 (GRCm39) |
T318A |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,567,498 (GRCm39) |
|
probably benign |
Het |
Lsm14a |
T |
C |
7: 34,088,780 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
C |
11: 101,952,345 (GRCm39) |
D393G |
probably benign |
Het |
Nfyb |
T |
C |
10: 82,588,260 (GRCm39) |
Y137C |
probably damaging |
Het |
Or10g1 |
T |
C |
14: 52,648,299 (GRCm39) |
D10G |
probably benign |
Het |
Or5d35 |
A |
T |
2: 87,855,648 (GRCm39) |
H194L |
probably benign |
Het |
Or5p55 |
T |
C |
7: 107,567,198 (GRCm39) |
I198T |
probably benign |
Het |
Scn3a |
A |
C |
2: 65,291,790 (GRCm39) |
I1652S |
probably damaging |
Het |
Slc33a1 |
C |
T |
3: 63,850,768 (GRCm39) |
V519I |
probably benign |
Het |
Strada |
G |
T |
11: 106,064,118 (GRCm39) |
N66K |
probably damaging |
Het |
Thoc2l |
A |
T |
5: 104,668,529 (GRCm39) |
Y1017F |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,083,189 (GRCm39) |
I463F |
probably damaging |
Het |
Tnfrsf19 |
G |
T |
14: 61,212,058 (GRCm39) |
F197L |
possibly damaging |
Het |
Tph1 |
T |
A |
7: 46,300,305 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,646,922 (GRCm39) |
L3287H |
probably damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,508,633 (GRCm39) |
S164T |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,444,995 (GRCm39) |
V1755I |
unknown |
Het |
Zmym4 |
T |
C |
4: 126,805,073 (GRCm39) |
I396V |
possibly damaging |
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 |
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 |
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 |
|
Posted On |
2013-12-09 |