Incidental Mutation 'R0006:Jazf1'
| ID |
8119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jazf1
|
| Ensembl Gene |
ENSMUSG00000063568 |
| Gene Name |
JAZF zinc finger 1 |
| Synonyms |
Jaz1, Tip27 |
| MMRRC Submission |
041980-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0006 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52745782-53045616 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 52871071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074541]
|
| AlphaFold |
Q80ZQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074541
|
| SMART Domains |
Protein: ENSMUSP00000074129
Gene: ENSMUSG00000063568
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
12 |
37 |
6.67e-2 |
SMART |
|
low complexity region
|
109 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
173 |
198 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
208 |
230 |
5.83e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136250
|
| Coding Region Coverage |
- 1x: 77.9%
- 3x: 66.3%
- 10x: 36.9%
- 20x: 17.4%
|
| Validation Efficiency |
95% (74/78) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
A |
G |
10: 83,438,762 (GRCm39) |
F556L |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,992,030 (GRCm39) |
S210T |
possibly damaging |
Het |
| Aurka |
A |
G |
2: 172,201,673 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,472,750 (GRCm39) |
I351T |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,339 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,288,244 (GRCm39) |
I284F |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,267,999 (GRCm39) |
T5325I |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,409,279 (GRCm39) |
|
probably null |
Het |
| Fancl |
A |
G |
11: 26,419,695 (GRCm39) |
N316S |
possibly damaging |
Het |
| Gabrd |
C |
A |
4: 155,473,058 (GRCm39) |
V72L |
probably damaging |
Het |
| Hephl1 |
T |
A |
9: 14,988,060 (GRCm39) |
T683S |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,201 (GRCm39) |
S1219T |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,489 (GRCm39) |
Y460F |
possibly damaging |
Het |
| Map1b |
C |
T |
13: 99,571,810 (GRCm39) |
V304M |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,384,099 (GRCm39) |
E140G |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,525,988 (GRCm39) |
K843E |
probably damaging |
Het |
| Rap1gds1 |
G |
T |
3: 138,689,632 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
T |
C |
10: 33,785,144 (GRCm39) |
C148R |
probably damaging |
Het |
| Slc7a9 |
A |
T |
7: 35,169,525 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,073,855 (GRCm39) |
S1405P |
probably damaging |
Het |
| Tex35 |
T |
C |
1: 156,927,314 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tpm3 |
T |
A |
3: 89,994,968 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,440,984 (GRCm39) |
D253G |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,841,861 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,918,767 (GRCm39) |
I335T |
probably damaging |
Het |
|
| Other mutations in Jazf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0006:Jazf1
|
UTSW |
6 |
52,871,071 (GRCm39) |
splice site |
probably benign |
|
|
R0546:Jazf1
|
UTSW |
6 |
52,754,681 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1508:Jazf1
|
UTSW |
6 |
52,789,166 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1522:Jazf1
|
UTSW |
6 |
52,789,168 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1926:Jazf1
|
UTSW |
6 |
53,045,516 (GRCm39) |
missense |
probably benign |
|
|
R1938:Jazf1
|
UTSW |
6 |
52,754,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Jazf1
|
UTSW |
6 |
52,754,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Jazf1
|
UTSW |
6 |
52,754,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6449:Jazf1
|
UTSW |
6 |
52,754,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7253:Jazf1
|
UTSW |
6 |
52,754,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7454:Jazf1
|
UTSW |
6 |
52,870,929 (GRCm39) |
splice site |
probably null |
|
|
R8873:Jazf1
|
UTSW |
6 |
52,789,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Jazf1
|
UTSW |
6 |
52,747,311 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Posted On |
2012-11-20 |
Incidental Mutation