Incidental Mutation 'R1576:Jade1'
ID |
171150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jade1
|
Ensembl Gene |
ENSMUSG00000025764 |
Gene Name |
jade family PHD finger 1 |
Synonyms |
Phf17, D530048A03Rik |
MMRRC Submission |
039614-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1576 (G1)
|
Quality Score |
155 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
41510169-41571299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 41546242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 89
(V89E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026865]
[ENSMUST00000163764]
[ENSMUST00000168086]
[ENSMUST00000170711]
[ENSMUST00000191952]
[ENSMUST00000195846]
[ENSMUST00000194181]
|
AlphaFold |
Q6ZPI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026865
AA Change: V89E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026865 Gene: ENSMUSG00000025764 AA Change: V89E
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 damaging
Transcript: ENSMUST00000163764
AA Change: V89E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128152 Gene: ENSMUSG00000025764 AA Change: V89E
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 damaging
Transcript: ENSMUST00000168086
AA Change: V89E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131441 Gene: ENSMUSG00000025764 AA Change: V89E
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 damaging
Transcript: ENSMUST00000170711
AA Change: V89E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127113 Gene: ENSMUSG00000025764 AA Change: V89E
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 |
probably damaging
Transcript: ENSMUST00000191952
AA Change: V89E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141499 Gene: ENSMUSG00000025764 AA Change: V89E
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 |
probably damaging
Transcript: ENSMUST00000195846
AA Change: V89E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141711 Gene: ENSMUSG00000025764 AA Change: V89E
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
29 |
152 |
6e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194181
AA Change: V89E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141670 Gene: ENSMUSG00000025764 AA Change: V89E
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194348
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195200
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193080
|
Meta Mutation Damage Score |
0.7587 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
Validation Efficiency |
100% (49/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGAATGCCTGTGCCACTGTCCC -3'
(R):5'- AGACTTCGCCTAGTCGGTCATTCC -3'
Sequencing Primer
(F):5'- GCCACTGTCCCTTTCTCG -3'
(R):5'- TTCTCCAGTAAGAGGGCTCAC -3'
|
Posted On |
2014-04-13 |