Incidental Mutation 'P0024:Zfp708'
| ID |
7684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp708
|
| Ensembl Gene |
ENSMUSG00000058883 |
| Gene Name |
zinc finger protein 708 |
| Synonyms |
|
| MMRRC Submission |
038277-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
P0024 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67217463-67246040 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 67218984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 247
(E247*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109742]
[ENSMUST00000109743]
[ENSMUST00000186303]
[ENSMUST00000190566]
|
| AlphaFold |
F8VPP0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109742
AA Change: E280*
|
| SMART Domains |
Protein: ENSMUSP00000105364
Gene: ENSMUSG00000058883
AA Change: E280*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
3.75e-28 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
1.6e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109743
AA Change: E292*
|
| SMART Domains |
Protein: ENSMUSP00000105365
Gene: ENSMUSG00000058883
AA Change: E292*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
17 |
77 |
3.75e-28 |
SMART |
|
ZnF_C2H2
|
93 |
115 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
121 |
143 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
149 |
171 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
177 |
199 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
205 |
227 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
261 |
283 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
401 |
423 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
429 |
451 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
485 |
507 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
513 |
535 |
1.6e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185954
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186303
|
| SMART Domains |
Protein: ENSMUSP00000140296
Gene: ENSMUSG00000100235
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
1 |
32 |
9.7e-3 |
SMART |
|
ZnF_C2H2
|
47 |
69 |
1.8e-6 |
SMART |
|
ZnF_C2H2
|
75 |
97 |
6.7e-5 |
SMART |
|
ZnF_C2H2
|
103 |
125 |
7.6e-6 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
7.6e-6 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
1.4e-7 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
7.6e-6 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
5.5e-5 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
8.9e-7 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
2e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190566
AA Change: E247*
|
| SMART Domains |
Protein: ENSMUSP00000139928
Gene: ENSMUSG00000058883
AA Change: E247*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
1 |
32 |
1.6e-3 |
SMART |
|
ZnF_C2H2
|
48 |
70 |
4.7e-6 |
SMART |
|
ZnF_C2H2
|
76 |
98 |
2.1e-5 |
SMART |
|
ZnF_C2H2
|
104 |
126 |
4.6e-5 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
2.9e-5 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
6.3e-6 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
3.3e-5 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
8.2e-6 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
2.2e-6 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
3.4e-6 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
3.6e-5 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
5.5e-7 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
2.1e-6 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
2.1e-5 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
5e-6 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
7.2e-7 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
6.8e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223904
|
| Meta Mutation Damage Score |
0.9749 |
| Coding Region Coverage |
- 1x: 71.8%
- 3x: 61.2%
- 10x: 33.0%
- 20x: 13.9%
|
| Validation Efficiency |
80% (70/87) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 3 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdca8 |
C |
T |
4: 124,820,457 (GRCm39) |
|
probably null |
Het |
| Mef2a |
G |
A |
7: 66,945,322 (GRCm39) |
T20I |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,335,231 (GRCm39) |
F139L |
probably damaging |
Het |
|
| Other mutations in Zfp708 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0611:Zfp708
|
UTSW |
13 |
67,218,375 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0627:Zfp708
|
UTSW |
13 |
67,218,781 (GRCm39) |
nonsense |
probably null |
|
|
R1019:Zfp708
|
UTSW |
13 |
67,222,162 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2230:Zfp708
|
UTSW |
13 |
67,219,036 (GRCm39) |
nonsense |
probably null |
|
|
R2512:Zfp708
|
UTSW |
13 |
67,219,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Zfp708
|
UTSW |
13 |
67,218,522 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6128:Zfp708
|
UTSW |
13 |
67,222,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6644:Zfp708
|
UTSW |
13 |
67,218,785 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6720:Zfp708
|
UTSW |
13 |
67,219,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Zfp708
|
UTSW |
13 |
67,219,200 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7885:Zfp708
|
UTSW |
13 |
67,222,193 (GRCm39) |
missense |
probably benign |
|
|
R9092:Zfp708
|
UTSW |
13 |
67,218,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-10-29 |
Incidental Mutation