Incidental Mutation 'IGL00863:Jmjd4'
| ID |
11528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jmjd4
|
| Ensembl Gene |
ENSMUSG00000036819 |
| Gene Name |
jumonji domain containing 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL00863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59340871-59349393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59341569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 113
(S113P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010038]
[ENSMUST00000045279]
[ENSMUST00000108777]
[ENSMUST00000120940]
[ENSMUST00000125846]
[ENSMUST00000132969]
[ENSMUST00000147163]
[ENSMUST00000150297]
[ENSMUST00000156146]
[ENSMUST00000136436]
[ENSMUST00000145550]
|
| AlphaFold |
Q8BFT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010038
|
| SMART Domains |
Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
173 |
N/A |
INTRINSIC |
|
SCOP:d1fpza_
|
181 |
234 |
3e-3 |
SMART |
|
low complexity region
|
335 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045279
AA Change: S113P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043473
Gene: ENSMUSG00000036819
AA Change: S113P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Blast:JmjC
|
34 |
89 |
2e-21 |
BLAST |
|
Blast:JmjC
|
103 |
144 |
1e-18 |
BLAST |
|
JmjC
|
147 |
294 |
1.56e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108777
AA Change: S113P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104407
Gene: ENSMUSG00000036819
AA Change: S113P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Blast:JmjC
|
34 |
89 |
3e-21 |
BLAST |
|
JmjC
|
147 |
306 |
1.84e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120940
|
| SMART Domains |
Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
173 |
N/A |
INTRINSIC |
|
SCOP:d1fpza_
|
181 |
234 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132969
|
| SMART Domains |
Protein: ENSMUSP00000116170
Gene: ENSMUSG00000009894
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147163
AA Change: S113P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123531
Gene: ENSMUSG00000036819
AA Change: S113P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Blast:JmjC
|
68 |
152 |
8e-38 |
BLAST |
|
Blast:JmjC
|
152 |
190 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150297
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156146
|
| SMART Domains |
Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136436
|
| SMART Domains |
Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145550
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are healthy, fertile and physiologically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsn |
A |
G |
9: 107,992,521 (GRCm39) |
I1077T |
probably damaging |
Het |
| Car8 |
A |
G |
4: 8,183,251 (GRCm39) |
|
probably null |
Het |
| Ccdc192 |
A |
T |
18: 57,727,158 (GRCm39) |
E136V |
probably damaging |
Het |
| Ccny |
A |
T |
18: 9,345,444 (GRCm39) |
D143E |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,876,874 (GRCm39) |
V155A |
probably damaging |
Het |
| Cript |
T |
A |
17: 87,335,151 (GRCm39) |
I14N |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cyria |
A |
T |
12: 12,409,235 (GRCm39) |
I72F |
probably benign |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,776,175 (GRCm39) |
V60A |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,139 (GRCm39) |
E249D |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Grik2 |
A |
G |
10: 49,232,024 (GRCm39) |
V502A |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,450,009 (GRCm39) |
V2001A |
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,487,470 (GRCm39) |
Y148* |
probably null |
Het |
| Nceh1 |
C |
T |
3: 27,295,462 (GRCm39) |
P241L |
probably damaging |
Het |
| Pals1 |
A |
G |
12: 78,856,595 (GRCm39) |
D146G |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,334,737 (GRCm39) |
D350E |
probably damaging |
Het |
| Pdgfrl |
A |
G |
8: 41,438,571 (GRCm39) |
E169G |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,225,283 (GRCm39) |
D128E |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,548 (GRCm39) |
V160A |
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,288,184 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,269 (GRCm39) |
N481Y |
probably damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,118,055 (GRCm39) |
S62R |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,380 (GRCm39) |
T226S |
probably benign |
Het |
| Tvp23b |
C |
A |
11: 62,774,464 (GRCm39) |
A36E |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,076 (GRCm39) |
E301K |
probably benign |
Het |
|
| Other mutations in Jmjd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Jmjd4
|
APN |
11 |
59,346,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00434:Jmjd4
|
APN |
11 |
59,341,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02566:Jmjd4
|
APN |
11 |
59,345,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0048:Jmjd4
|
UTSW |
11 |
59,344,778 (GRCm39) |
missense |
probably benign |
|
|
R1678:Jmjd4
|
UTSW |
11 |
59,344,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Jmjd4
|
UTSW |
11 |
59,345,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Jmjd4
|
UTSW |
11 |
59,346,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5621:Jmjd4
|
UTSW |
11 |
59,341,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6053:Jmjd4
|
UTSW |
11 |
59,344,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6664:Jmjd4
|
UTSW |
11 |
59,341,245 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7816:Jmjd4
|
UTSW |
11 |
59,341,162 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8080:Jmjd4
|
UTSW |
11 |
59,341,179 (GRCm39) |
missense |
probably benign |
|
|
R8957:Jmjd4
|
UTSW |
11 |
59,340,884 (GRCm39) |
unclassified |
probably benign |
|
|
R9356:Jmjd4
|
UTSW |
11 |
59,345,761 (GRCm39) |
missense |
probably benign |
|
|
R9732:Jmjd4
|
UTSW |
11 |
59,341,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0018:Jmjd4
|
UTSW |
11 |
59,345,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Jmjd4
|
UTSW |
11 |
59,341,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation