Incidental Mutation 'R4279:Jmjd8'
| ID |
322821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jmjd8
|
| Ensembl Gene |
ENSMUSG00000025736 |
| Gene Name |
jumonji domain containing 8 |
| Synonyms |
2610003J06Rik |
| MMRRC Submission |
041079-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4279 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26048017-26050817 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 26048787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139046
(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 |
silent
Transcript: ENSMUST00000026832
|
| SMART Domains |
Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736
| 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: T134A
|
| SMART Domains |
Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
| Predicted Effect |
silent
Transcript: ENSMUST00000133595
|
| SMART Domains |
Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736
| 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: ENSMUST00000160275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176751
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
| Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
| Cyp2b23 |
C |
T |
7: 26,365,452 (GRCm39) |
S461N |
possibly damaging |
Het |
| Dgat2 |
C |
A |
7: 98,813,912 (GRCm39) |
G120V |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,042,734 (GRCm39) |
V889D |
probably benign |
Het |
| Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
| Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,511 (GRCm39) |
I89V |
probably benign |
Het |
| Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
| Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
| Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,820,602 (GRCm39) |
L69Q |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,292 (GRCm39) |
Q179L |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,112,297 (GRCm38) |
N388S |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
| Zfp365 |
A |
T |
10: 67,733,431 (GRCm39) |
F254I |
probably benign |
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 |
|
|
IGL02858:Jmjd8
|
APN |
17 |
26,049,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAGTGCTCAGTTACCTTATC -3'
(R):5'- GCCCACTCAGTGAAGTTGTTG -3'
Sequencing Primer
(F):5'- GGAAAACCTGCTAGCCTCGTTC -3'
(R):5'- ACTCAGTGAAGTTGTTGTCTCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation