Incidental Mutation 'R8469:Jmjd7'
| ID |
656940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jmjd7
|
| Ensembl Gene |
ENSMUSG00000098789 |
| Gene Name |
jumonji domain containing 7 |
| Synonyms |
|
| MMRRC Submission |
067913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119857964-119863075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119860643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 57
(A57T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044675]
[ENSMUST00000066058]
[ENSMUST00000126150]
[ENSMUST00000129679]
[ENSMUST00000129685]
[ENSMUST00000135365]
[ENSMUST00000156805]
[ENSMUST00000162393]
[ENSMUST00000229024]
|
| AlphaFold |
P0C872 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044675
AA Change: A57T
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789
AA Change: A57T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
307 |
4.31e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066058
|
| SMART Domains |
Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
80 |
121 |
8.75e-5 |
SMART |
|
WD40
|
124 |
165 |
3.64e-2 |
SMART |
|
WD40
|
168 |
205 |
4.62e-1 |
SMART |
|
low complexity region
|
220 |
234 |
N/A |
INTRINSIC |
|
WD40
|
264 |
301 |
2.65e1 |
SMART |
|
WD40
|
332 |
367 |
1.99e0 |
SMART |
|
WD40
|
374 |
422 |
1.29e-2 |
SMART |
|
WD40
|
463 |
502 |
3.9e-2 |
SMART |
|
WD40
|
505 |
547 |
2.77e-1 |
SMART |
|
WD40
|
551 |
592 |
2.67e-1 |
SMART |
|
WD40
|
599 |
639 |
2.21e1 |
SMART |
|
WD40
|
642 |
684 |
5.75e-1 |
SMART |
|
WD40
|
687 |
726 |
6.04e-8 |
SMART |
|
low complexity region
|
736 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1054 |
N/A |
INTRINSIC |
|
coiled coil region
|
1400 |
1427 |
N/A |
INTRINSIC |
|
low complexity region
|
1460 |
1477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125805
|
| SMART Domains |
Protein: ENSMUSP00000122869
Gene: ENSMUSG00000033852
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cupin_8
|
2 |
62 |
2.8e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126150
|
| SMART Domains |
Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
119 |
1.79e-17 |
SMART |
|
PLAc
|
233 |
789 |
1.99e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129679
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129685
AA Change: A57T
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: A57T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
|
C2
|
242 |
342 |
1.79e-17 |
SMART |
|
PLAc
|
456 |
1012 |
1.99e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135365
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156805
AA Change: A57T
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: A57T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
|
C2
|
242 |
342 |
1.79e-17 |
SMART |
|
PLAc
|
456 |
892 |
8.56e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162393
AA Change: A57T
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852
AA Change: A57T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
242 |
4.42e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229024
|
| Meta Mutation Damage Score |
0.7850 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,797 (GRCm39) |
F113S |
probably damaging |
Het |
| Abcd4 |
A |
G |
12: 84,659,190 (GRCm39) |
Y189H |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,240,457 (GRCm39) |
D210G |
possibly damaging |
Het |
| Adam28 |
C |
T |
14: 68,844,029 (GRCm39) |
V774I |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,500,264 (GRCm39) |
|
probably null |
Het |
| Atg2b |
A |
T |
12: 105,604,170 (GRCm39) |
I1577N |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,978,834 (GRCm39) |
S827P |
possibly damaging |
Het |
| Carmil1 |
A |
T |
13: 24,296,011 (GRCm39) |
C377S |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,090,083 (GRCm39) |
E112G |
possibly damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,711,340 (GRCm39) |
R496S |
probably damaging |
Het |
| Dmgdh |
G |
A |
13: 93,843,175 (GRCm39) |
R337Q |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,813,895 (GRCm39) |
F345S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,268,109 (GRCm39) |
R2844G |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,845,186 (GRCm39) |
I353L |
unknown |
Het |
| Fam78a |
A |
G |
2: 31,959,345 (GRCm39) |
V255A |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,210,074 (GRCm39) |
I1406L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,678,680 (GRCm39) |
F949S |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,724,804 (GRCm39) |
T269A |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,767,065 (GRCm39) |
D364V |
probably damaging |
Het |
| Lrp12 |
T |
C |
15: 39,735,791 (GRCm39) |
T733A |
probably damaging |
Het |
| Marchf7 |
T |
A |
2: 60,064,670 (GRCm39) |
N315K |
probably benign |
Het |
| Methig1 |
A |
G |
15: 100,251,130 (GRCm39) |
I14V |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,481,223 (GRCm39) |
M1K |
probably null |
Het |
| Nras |
A |
G |
3: 102,966,217 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,425,366 (GRCm39) |
T1508A |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,019,063 (GRCm39) |
T917A |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,090,347 (GRCm39) |
V21A |
possibly damaging |
Het |
| Pcdha5 |
T |
A |
18: 37,094,798 (GRCm39) |
W436R |
probably benign |
Het |
| Pde4d |
T |
C |
13: 108,996,722 (GRCm39) |
V8A |
probably benign |
Het |
| Pou4f3 |
C |
T |
18: 42,528,339 (GRCm39) |
T94M |
probably benign |
Het |
| Prdm6 |
G |
T |
18: 53,597,758 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,786,198 (GRCm39) |
R674G |
probably damaging |
Het |
| Rcc1 |
A |
G |
4: 132,061,445 (GRCm39) |
S368P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,485 (GRCm39) |
V110E |
probably benign |
Het |
| Reep4 |
T |
A |
14: 70,783,180 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
T |
C |
2: 143,831,661 (GRCm39) |
I169V |
probably damaging |
Het |
| Slc2a6 |
T |
C |
2: 26,914,347 (GRCm39) |
S257G |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,982,627 (GRCm39) |
R612G |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,340,434 (GRCm39) |
T529A |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,851,219 (GRCm39) |
S458G |
probably benign |
Het |
| Zfp729a |
G |
T |
13: 67,769,481 (GRCm39) |
H249Q |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,572 (GRCm39) |
I445T |
possibly damaging |
Het |
|
| Other mutations in Jmjd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0522:Jmjd7
|
UTSW |
2 |
119,860,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Jmjd7
|
UTSW |
2 |
119,860,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Jmjd7
|
UTSW |
2 |
119,860,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Jmjd7
|
UTSW |
2 |
119,860,601 (GRCm39) |
splice site |
probably null |
|
|
R4586:Jmjd7
|
UTSW |
2 |
119,862,649 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6520:Jmjd7
|
UTSW |
2 |
119,861,800 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6805:Jmjd7
|
UTSW |
2 |
119,861,804 (GRCm39) |
nonsense |
probably null |
|
|
R7262:Jmjd7
|
UTSW |
2 |
119,862,467 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:Jmjd7
|
UTSW |
2 |
119,860,996 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9276:Jmjd7
|
UTSW |
2 |
119,860,895 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGAGGGCTTCTTGGTGC -3'
(R):5'- GTTCAGCAGGCATCACAAAGC -3'
Sequencing Primer
(F):5'- CAGTGTGATGGAAGTTGGGTAC -3'
(R):5'- GTCCGCATAACCATCTGGAGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation