Incidental Mutation 'R4753:Jade1'
| ID |
357719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jade1
|
| Ensembl Gene |
ENSMUSG00000025764 |
| Gene Name |
jade family PHD finger 1 |
| Synonyms |
Phf17, D530048A03Rik |
| MMRRC Submission |
041971-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
41510169-41571299 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 41551106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 2
(R2*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026865]
[ENSMUST00000163764]
[ENSMUST00000168086]
[ENSMUST00000170711]
[ENSMUST00000191952]
[ENSMUST00000194181]
[ENSMUST00000195846]
|
| AlphaFold |
Q6ZPI0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026865
AA Change: R182*
|
| SMART Domains |
Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: R182*
| 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 null
Transcript: ENSMUST00000163764
AA Change: R182*
|
| SMART Domains |
Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: R182*
| 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 null
Transcript: ENSMUST00000168086
AA Change: R182*
|
| SMART Domains |
Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: R182*
| 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 null
Transcript: ENSMUST00000170711
AA Change: R182*
|
| SMART Domains |
Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: R182*
| 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 null
Transcript: ENSMUST00000191952
AA Change: R182*
|
| SMART Domains |
Protein: ENSMUSP00000141499
Gene: ENSMUSG00000025764
AA Change: R182*
| 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 null
Transcript: ENSMUST00000192451
AA Change: R2*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194348
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (57/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
T |
A |
13: 112,500,009 (GRCm39) |
D257E |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,494,938 (GRCm39) |
V399A |
probably damaging |
Het |
| Atp8b5 |
C |
T |
4: 43,372,710 (GRCm39) |
P1117S |
probably damaging |
Het |
| Cd48 |
A |
G |
1: 171,527,156 (GRCm39) |
Q194R |
probably damaging |
Het |
| Cdk13 |
G |
A |
13: 17,937,833 (GRCm39) |
R737C |
probably damaging |
Het |
| Clasrp |
A |
T |
7: 19,328,865 (GRCm39) |
I89N |
probably damaging |
Het |
| Clrn1 |
G |
T |
3: 58,792,318 (GRCm39) |
N48K |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,043,451 (GRCm39) |
V1313E |
possibly damaging |
Het |
| Cyld |
T |
A |
8: 89,471,444 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dtl |
T |
C |
1: 191,301,815 (GRCm39) |
T81A |
probably damaging |
Het |
| Dus1l |
C |
T |
11: 120,682,901 (GRCm39) |
E299K |
probably benign |
Het |
| E130114P18Rik |
A |
T |
4: 97,463,129 (GRCm39) |
D14E |
possibly damaging |
Het |
| Fam83g |
C |
A |
11: 61,586,095 (GRCm39) |
H228N |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 25,223,382 (GRCm39) |
K909N |
possibly damaging |
Het |
| Fign |
T |
A |
2: 63,809,363 (GRCm39) |
I636L |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,349,519 (GRCm39) |
E346G |
probably null |
Het |
| Gcc2 |
T |
C |
10: 58,126,204 (GRCm39) |
Y1271H |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,754,537 (GRCm39) |
V2379A |
probably benign |
Het |
| Grin2d |
G |
T |
7: 45,483,330 (GRCm39) |
P949Q |
probably damaging |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,762 (GRCm39) |
M53I |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,822,875 (GRCm39) |
*97W |
probably null |
Het |
| Lama3 |
G |
T |
18: 12,615,141 (GRCm39) |
C1355F |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,710,752 (GRCm39) |
S12P |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,696,608 (GRCm39) |
T402A |
probably benign |
Het |
| Mill1 |
A |
C |
7: 17,996,472 (GRCm39) |
K96T |
probably benign |
Het |
| Muc19 |
T |
G |
15: 91,761,955 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5b |
C |
A |
7: 141,410,590 (GRCm39) |
T1321N |
unknown |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or1ad1 |
T |
C |
11: 50,875,978 (GRCm39) |
V150A |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,677 (GRCm39) |
I214F |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,342,185 (GRCm39) |
P669S |
probably damaging |
Het |
| Procr |
A |
G |
2: 155,595,384 (GRCm39) |
N63D |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,518,799 (GRCm39) |
S2136P |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,769 (GRCm39) |
M677V |
probably benign |
Het |
| Rad52 |
T |
A |
6: 119,889,946 (GRCm39) |
|
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,436,509 (GRCm39) |
|
probably null |
Het |
| Rogdi |
T |
C |
16: 4,828,363 (GRCm39) |
T189A |
probably damaging |
Het |
| Rph3al |
G |
A |
11: 75,799,845 (GRCm39) |
T38M |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,707 (GRCm39) |
V655E |
possibly damaging |
Het |
| Sik3 |
T |
C |
9: 46,109,512 (GRCm39) |
F499L |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,728 (GRCm39) |
N387S |
probably benign |
Het |
| Slc6a12 |
C |
T |
6: 121,333,862 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,665,255 (GRCm39) |
T667A |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,053,212 (GRCm39) |
I3378V |
probably benign |
Het |
| Thnsl1 |
C |
T |
2: 21,218,175 (GRCm39) |
T122I |
probably damaging |
Het |
| Timeless |
G |
A |
10: 128,075,889 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,914,909 (GRCm39) |
V1966I |
possibly damaging |
Het |
| Tril |
A |
G |
6: 53,796,698 (GRCm39) |
F175L |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,613,140 (GRCm39) |
Y604C |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,074 (GRCm39) |
M736L |
probably benign |
Het |
| Zscan10 |
A |
C |
17: 23,826,208 (GRCm39) |
E123D |
probably 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 |
|
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 |
|
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'- AGCATTTTCTCTGGTGCTCAG -3'
(R):5'- GGCTCCATTAGGAAGAACCAC -3'
Sequencing Primer
(F):5'- CTGGTGCTCAGTTACCTTTATTTATG -3'
(R):5'- TAGACTCCAGGCAGTACAGGC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation