Incidental Mutation 'IGL02858:Jmjd8'
ID |
362042 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Jmjd8
|
Ensembl Gene |
ENSMUSG00000025736 |
Gene Name |
jumonji domain containing 8 |
Synonyms |
2610003J06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02858
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
26048017-26050817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26049134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 230
(F230S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000026832]
[ENSMUST00000026833]
[ENSMUST00000044911]
[ENSMUST00000123582]
[ENSMUST00000133595]
[ENSMUST00000183929]
|
AlphaFold |
Q3TA59 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026831
|
SMART Domains |
Protein: ENSMUSP00000026831 Gene: ENSMUSG00000025735
Domain | Start | End | E-Value | Type |
SCOP:d2mysb_
|
13 |
74 |
5e-7 |
SMART |
Blast:EFh
|
43 |
71 |
9e-11 |
BLAST |
transmembrane domain
|
129 |
151 |
N/A |
INTRINSIC |
Pfam:Rhomboid
|
174 |
331 |
6.7e-36 |
PFAM |
transmembrane domain
|
339 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026832
AA Change: F185S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026832 Gene: ENSMUSG00000025736 AA Change: F185S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
JmjC
|
140 |
271 |
5.27e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026833
|
SMART Domains |
Protein: ENSMUSP00000026833 Gene: ENSMUSG00000025737
Domain | Start | End | E-Value | Type |
Blast:WD40
|
19 |
53 |
6e-8 |
BLAST |
WD40
|
68 |
103 |
2.13e1 |
SMART |
WD40
|
109 |
149 |
5.77e-5 |
SMART |
WD40
|
152 |
192 |
4.48e-2 |
SMART |
WD40
|
196 |
236 |
1.48e-11 |
SMART |
WD40
|
244 |
282 |
1.66e0 |
SMART |
WD40
|
286 |
327 |
2.48e0 |
SMART |
low complexity region
|
605 |
623 |
N/A |
INTRINSIC |
Blast:RING
|
743 |
780 |
2e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000044911
|
SMART Domains |
Protein: ENSMUSP00000040431 Gene: ENSMUSG00000039615
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
TPR
|
27 |
60 |
2.43e1 |
SMART |
TPR
|
61 |
94 |
1.48e-7 |
SMART |
TPR
|
95 |
128 |
4.52e-3 |
SMART |
low complexity region
|
168 |
180 |
N/A |
INTRINSIC |
Ubox
|
231 |
294 |
1.27e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123560
|
Predicted Effect |
unknown
Transcript: ENSMUST00000123582
AA Change: S176P
|
SMART Domains |
Protein: ENSMUSP00000119840 Gene: ENSMUSG00000025736 AA Change: S176P
Domain | Start | End | E-Value | Type |
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
low complexity region
|
194 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133595
AA Change: F230S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122744 Gene: ENSMUSG00000025736 AA Change: F230S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
55 |
74 |
N/A |
INTRINSIC |
JmjC
|
185 |
316 |
5.27e-2 |
SMART |
|
Predicted Effect |
silent
Transcript: ENSMUST00000152434
|
SMART Domains |
Protein: ENSMUSP00000119378 Gene: ENSMUSG00000025736
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123692
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183929
|
SMART Domains |
Protein: ENSMUSP00000139046 Gene: ENSMUSG00000025735
Domain | Start | End | E-Value | Type |
SCOP:d2mysb_
|
13 |
74 |
9e-6 |
SMART |
Blast:EFh
|
43 |
70 |
2e-9 |
BLAST |
transmembrane domain
|
136 |
155 |
N/A |
INTRINSIC |
Pfam:Rhomboid
|
178 |
327 |
1e-27 |
PFAM |
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176751
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced capillaries in muscle tissue and reduced glycolysis in isolated cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
G |
1: 179,596,599 (GRCm39) |
V126A |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,119,130 (GRCm39) |
Y3546H |
possibly damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap45 |
C |
A |
10: 79,853,768 (GRCm39) |
T94N |
probably benign |
Het |
Arid1b |
T |
C |
17: 5,392,166 (GRCm39) |
S1899P |
possibly damaging |
Het |
Atad5 |
T |
A |
11: 79,980,601 (GRCm39) |
V2E |
probably damaging |
Het |
Calr |
A |
T |
8: 85,571,528 (GRCm39) |
V155E |
probably benign |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cetn1 |
T |
C |
18: 9,619,422 (GRCm39) |
|
probably benign |
Het |
Chl1 |
A |
T |
6: 103,618,949 (GRCm39) |
L6F |
probably damaging |
Het |
Chrnb1 |
C |
T |
11: 69,675,935 (GRCm39) |
V436I |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,506,204 (GRCm39) |
E292G |
unknown |
Het |
Ddx56 |
A |
G |
11: 6,217,667 (GRCm39) |
L18P |
probably damaging |
Het |
Dhx36 |
A |
C |
3: 62,384,797 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,453,358 (GRCm39) |
R4376S |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 73,185,582 (GRCm39) |
D113V |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,512,118 (GRCm39) |
|
probably benign |
Het |
Dock7 |
T |
A |
4: 98,833,442 (GRCm39) |
K1920* |
probably null |
Het |
Dysf |
A |
G |
6: 84,076,471 (GRCm39) |
D628G |
probably benign |
Het |
Exoc3l2 |
A |
G |
7: 19,229,109 (GRCm39) |
I176V |
probably benign |
Het |
Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
Fzd4 |
C |
T |
7: 89,057,162 (GRCm39) |
T403M |
probably damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,288 (GRCm39) |
N162K |
probably benign |
Het |
Impdh1 |
T |
A |
6: 29,206,924 (GRCm39) |
K132* |
probably null |
Het |
Itgb2l |
A |
T |
16: 96,223,850 (GRCm39) |
W730R |
possibly damaging |
Het |
Krt72 |
G |
A |
15: 101,690,556 (GRCm39) |
T232M |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,740,540 (GRCm39) |
|
probably benign |
Het |
Nup214 |
A |
C |
2: 31,900,384 (GRCm39) |
|
probably benign |
Het |
Or11g7 |
A |
T |
14: 50,690,507 (GRCm39) |
|
probably benign |
Het |
Or7d10 |
A |
G |
9: 19,831,747 (GRCm39) |
M81V |
probably damaging |
Het |
Or8c20 |
A |
G |
9: 38,260,469 (GRCm39) |
Q24R |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,095,822 (GRCm39) |
Y113C |
probably damaging |
Het |
Pdgfra |
T |
A |
5: 75,355,635 (GRCm39) |
S1048R |
probably damaging |
Het |
Sall3 |
G |
T |
18: 81,012,728 (GRCm39) |
A1236E |
probably damaging |
Het |
Sipa1 |
T |
C |
19: 5,705,736 (GRCm39) |
T411A |
probably damaging |
Het |
Thsd7a |
T |
G |
6: 12,500,994 (GRCm39) |
D471A |
probably benign |
Het |
Tm2d1 |
T |
A |
4: 98,263,192 (GRCm39) |
E100D |
probably damaging |
Het |
Tmcc1 |
A |
G |
6: 116,110,849 (GRCm39) |
V148A |
probably damaging |
Het |
Tubgcp6 |
A |
T |
15: 88,986,518 (GRCm39) |
Y19* |
probably null |
Het |
Ubr3 |
A |
G |
2: 69,783,203 (GRCm39) |
Y713C |
probably damaging |
Het |
Uevld |
A |
G |
7: 46,605,377 (GRCm39) |
V39A |
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,484,003 (GRCm39) |
H732Q |
probably damaging |
Het |
Zfp629 |
A |
T |
7: 127,209,484 (GRCm39) |
F775Y |
probably damaging |
Het |
|
Other mutations in Jmjd8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01087:Jmjd8
|
APN |
17 |
26,048,145 (GRCm39) |
splice site |
probably benign |
|
IGL01813:Jmjd8
|
APN |
17 |
26,048,212 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03326:Jmjd8
|
APN |
17 |
26,048,139 (GRCm39) |
critical splice donor site |
probably null |
|
R0045:Jmjd8
|
UTSW |
17 |
26,048,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R1491:Jmjd8
|
UTSW |
17 |
26,048,266 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4276:Jmjd8
|
UTSW |
17 |
26,048,787 (GRCm39) |
unclassified |
probably benign |
|
R4277:Jmjd8
|
UTSW |
17 |
26,048,787 (GRCm39) |
unclassified |
probably benign |
|
R4279:Jmjd8
|
UTSW |
17 |
26,048,787 (GRCm39) |
unclassified |
probably benign |
|
R4534:Jmjd8
|
UTSW |
17 |
26,047,984 (GRCm39) |
splice site |
probably null |
|
R6490:Jmjd8
|
UTSW |
17 |
26,048,086 (GRCm39) |
missense |
probably benign |
0.08 |
R6904:Jmjd8
|
UTSW |
17 |
26,048,026 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7305:Jmjd8
|
UTSW |
17 |
26,049,301 (GRCm39) |
missense |
probably benign |
0.13 |
R7935:Jmjd8
|
UTSW |
17 |
26,048,071 (GRCm39) |
missense |
probably benign |
0.36 |
R8015:Jmjd8
|
UTSW |
17 |
26,048,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R9369:Jmjd8
|
UTSW |
17 |
26,048,686 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-12-18 |