Incidental Mutation 'R0763:Jade1'
| ID |
72493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jade1
|
| Ensembl Gene |
ENSMUSG00000025764 |
| Gene Name |
jade family PHD finger 1 |
| Synonyms |
Phf17, D530048A03Rik |
| MMRRC Submission |
038943-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0763 (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 41568218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 762
(C762F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026865]
[ENSMUST00000163764]
[ENSMUST00000168086]
[ENSMUST00000170711]
|
| AlphaFold |
Q6ZPI0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026865
AA Change: C762F
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: C762F
| 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: C762F
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: C762F
| 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: C762F
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: C762F
| 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: C762F
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: C762F
| 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 |
|
| Meta Mutation Damage Score |
0.0910 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
96% (52/54) |
| 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 |
|---|
| Abtb1 |
A |
C |
6: 88,815,261 (GRCm39) |
F290V |
probably damaging |
Het |
| Adam26b |
G |
A |
8: 43,973,601 (GRCm39) |
S467L |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,647,244 (GRCm39) |
I3099F |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,997 (GRCm39) |
D2137G |
possibly damaging |
Het |
| Arhgdig |
T |
C |
17: 26,419,275 (GRCm39) |
Y48C |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,337,460 (GRCm39) |
I389V |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,817,226 (GRCm39) |
D920G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,818 (GRCm39) |
N200I |
probably damaging |
Het |
| Casc3 |
T |
C |
11: 98,722,144 (GRCm39) |
Y661H |
probably damaging |
Het |
| Cep120 |
A |
C |
18: 53,854,809 (GRCm39) |
V442G |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,943,841 (GRCm39) |
Y1557H |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,097,022 (GRCm39) |
Q1485K |
possibly damaging |
Het |
| Cntrl |
T |
C |
2: 35,061,078 (GRCm39) |
F1967L |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 17,077,300 (GRCm39) |
T119M |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 66,046,356 (GRCm39) |
H64R |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,813,703 (GRCm39) |
R2899G |
probably damaging |
Het |
| Foxl2 |
A |
C |
9: 98,838,086 (GRCm39) |
T125P |
probably damaging |
Het |
| Foxred1 |
A |
T |
9: 35,118,769 (GRCm39) |
|
probably null |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,133 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,884,869 (GRCm39) |
S378P |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,445,096 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
T |
G |
3: 20,057,443 (GRCm39) |
R780S |
probably damaging |
Het |
| Ifi44 |
G |
A |
3: 151,455,135 (GRCm39) |
A30V |
probably damaging |
Het |
| Il12rb1 |
G |
A |
8: 71,265,934 (GRCm39) |
|
probably benign |
Het |
| Invs |
G |
A |
4: 48,392,628 (GRCm39) |
G281R |
possibly damaging |
Het |
| Itgax |
C |
A |
7: 127,747,112 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,079,813 (GRCm39) |
P1229S |
probably damaging |
Het |
| Mmp15 |
C |
A |
8: 96,094,856 (GRCm39) |
D243E |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,052,253 (GRCm39) |
T1004A |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,791 (GRCm39) |
V44E |
probably damaging |
Het |
| N4bp2l1 |
C |
A |
5: 150,517,869 (GRCm39) |
R11S |
possibly damaging |
Het |
| Notch4 |
T |
A |
17: 34,784,306 (GRCm39) |
C36* |
probably null |
Het |
| Nwd1 |
A |
G |
8: 73,397,672 (GRCm39) |
D637G |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,782,264 (GRCm39) |
I238T |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,688,441 (GRCm39) |
E95K |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,838,639 (GRCm39) |
D1256G |
possibly damaging |
Het |
| Ppp1r26 |
T |
C |
2: 28,340,379 (GRCm39) |
L3P |
probably damaging |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
T |
9: 78,460,372 (GRCm39) |
|
probably benign |
Het |
| Slc25a17 |
A |
G |
15: 81,207,907 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
C |
14: 47,528,112 (GRCm39) |
F349S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,851,238 (GRCm39) |
V306A |
probably damaging |
Het |
| Tchhl1 |
A |
C |
3: 93,378,878 (GRCm39) |
E527D |
probably benign |
Het |
| Tm7sf3 |
A |
G |
6: 146,507,787 (GRCm39) |
L425S |
possibly damaging |
Het |
| Tmem266 |
G |
T |
9: 55,322,239 (GRCm39) |
V112L |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,090,539 (GRCm39) |
I223F |
possibly damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,535 (GRCm39) |
G104D |
probably benign |
Het |
| Ttc17 |
G |
T |
2: 94,163,148 (GRCm39) |
A834E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,561,534 (GRCm39) |
V20664M |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,931,020 (GRCm39) |
V323A |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGACAACACAAGAGCTGCC -3'
(R):5'- GCAACAAGCCATGTGCTTCCAC -3'
Sequencing Primer
(F):5'- CCACCTCCCCTGGAGTAG -3'
(R):5'- ACCGGCTGTTTCATCAAGAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation