Incidental Mutation 'R3963:Jade1'
| ID |
312162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jade1
|
| Ensembl Gene |
ENSMUSG00000025764 |
| Gene Name |
jade family PHD finger 1 |
| Synonyms |
Phf17, D530048A03Rik |
| MMRRC Submission |
040932-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3963 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
41510169-41571299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41555845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 304
(V304A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026865]
[ENSMUST00000163764]
[ENSMUST00000168086]
[ENSMUST00000170711]
[ENSMUST00000191952]
[ENSMUST00000195846]
|
| AlphaFold |
Q6ZPI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026865
AA Change: V304A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: V304A
| 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: V304A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: V304A
| 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: V304A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: V304A
| 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: V304A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: V304A
| 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: V304A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141499
Gene: ENSMUSG00000025764
AA Change: V304A
| 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 |
noncoding transcript
Transcript: ENSMUST00000192300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195322
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192451
|
| 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 |
0.3943 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,504,443 (GRCm39) |
D59G |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,728,245 (GRCm39) |
S783T |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,468,025 (GRCm39) |
D1725G |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Btbd8 |
G |
A |
5: 107,655,222 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,252,011 (GRCm39) |
T101K |
possibly damaging |
Het |
| Ccdc85a |
A |
C |
11: 28,526,396 (GRCm39) |
M376R |
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,613,158 (GRCm39) |
C255S |
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,779,972 (GRCm39) |
M119V |
probably benign |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Clptm1 |
C |
T |
7: 19,372,121 (GRCm39) |
W238* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,842,047 (GRCm39) |
V302A |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,431,969 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
A |
9: 64,769,613 (GRCm39) |
I440N |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,464,605 (GRCm39) |
M71K |
probably benign |
Het |
| Exoc3l2 |
G |
A |
7: 19,229,181 (GRCm39) |
G200S |
probably benign |
Het |
| Fhip2a |
T |
C |
19: 57,361,442 (GRCm39) |
L122P |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,258,914 (GRCm39) |
I114N |
probably damaging |
Het |
| Fpr-rs6 |
G |
A |
17: 20,402,479 (GRCm39) |
P294L |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,940,638 (GRCm39) |
T428A |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,228 (GRCm39) |
M1K |
probably null |
Het |
| Gdf3 |
C |
T |
6: 122,583,717 (GRCm39) |
V217I |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,292,397 (GRCm39) |
|
probably null |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itpkc |
T |
C |
7: 26,926,934 (GRCm39) |
T327A |
probably damaging |
Het |
| Leo1 |
C |
A |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
T |
3: 157,866,042 (GRCm39) |
L1233Q |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Matn2 |
C |
A |
15: 34,388,937 (GRCm39) |
Y342* |
probably null |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,315,454 (GRCm39) |
H244R |
possibly damaging |
Het |
| Mmaa |
A |
T |
8: 79,994,843 (GRCm39) |
V321E |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 109,842,184 (GRCm39) |
L196F |
probably damaging |
Het |
| Oas1e |
A |
G |
5: 120,932,205 (GRCm39) |
V146A |
probably damaging |
Het |
| Or52z1 |
G |
T |
7: 103,437,241 (GRCm39) |
T81K |
probably benign |
Het |
| Plcxd2 |
T |
C |
16: 45,800,864 (GRCm39) |
K120R |
probably damaging |
Het |
| Prex2 |
G |
T |
1: 11,180,581 (GRCm39) |
C382F |
possibly damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,510 (GRCm39) |
H170Q |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,661 (GRCm39) |
T747A |
probably damaging |
Het |
| Qki |
G |
A |
17: 10,435,394 (GRCm39) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,869,085 (GRCm39) |
T503A |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,194,370 (GRCm39) |
|
probably null |
Het |
| Snap91 |
A |
T |
9: 86,657,665 (GRCm39) |
W509R |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tnfaip8 |
C |
A |
18: 50,223,653 (GRCm39) |
H154N |
possibly damaging |
Het |
| Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,954,816 (GRCm39) |
E60G |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,849,136 (GRCm39) |
|
probably benign |
Het |
| Tubg2 |
T |
C |
11: 101,051,224 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,276,477 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,360,750 (GRCm39) |
R26* |
probably null |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,102 (GRCm39) |
V37A |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,322,572 (GRCm39) |
N49I |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,588 (GRCm39) |
C374S |
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 |
|
R2962:Jade1
|
UTSW |
3 |
41,567,762 (GRCm39) |
missense |
probably benign |
|
|
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'- AAAGACTGGCAAGCTGGTATC -3'
(R):5'- TCCAAACCCAGGCAGATTTC -3'
Sequencing Primer
(F):5'- CTGGCAAGCTGGTATCAATGG -3'
(R):5'- GGCAGATTTCCAGATAACCTTCC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation