Incidental Mutation 'R8993:Zfp426'
| ID |
684550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp426
|
| Ensembl Gene |
ENSMUSG00000059475 |
| Gene Name |
zinc finger protein 426 |
| Synonyms |
Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik |
| MMRRC Submission |
068824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R8993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20386296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 62
(F62L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080386]
[ENSMUST00000115562]
[ENSMUST00000163348]
[ENSMUST00000163427]
[ENSMUST00000164250]
[ENSMUST00000164799]
[ENSMUST00000164825]
[ENSMUST00000169558]
[ENSMUST00000166005]
[ENSMUST00000167457]
[ENSMUST00000168095]
[ENSMUST00000169269]
|
| AlphaFold |
Q8R1D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080386
AA Change: F48L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: F48L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
ZnF_C2H2
|
219 |
241 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
3.44e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115562
AA Change: F48L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: F48L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
ZnF_C2H2
|
219 |
241 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
3.44e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163348
AA Change: F48L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: F48L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
273 |
295 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
301 |
323 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
413 |
435 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
441 |
463 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
469 |
491 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
3.44e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164250
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164799
AA Change: F62L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130120
Gene: ENSMUSG00000059475
AA Change: F62L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
53 |
93 |
1.2e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164825
AA Change: F48L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127914
Gene: ENSMUSG00000059475
AA Change: F48L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169558
AA Change: F62L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: F62L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
53 |
113 |
5.56e-31 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
288 |
310 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
316 |
338 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
344 |
366 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
456 |
478 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
512 |
534 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
3.44e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166005
AA Change: F48L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: F48L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
ZnF_C2H2
|
219 |
241 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
3.44e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167457
|
| SMART Domains |
Protein: ENSMUSP00000130945
Gene: ENSMUSG00000059475
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
1 |
32 |
1.46e0 |
SMART |
|
ZnF_C2H2
|
152 |
174 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
207 |
229 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
235 |
257 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
263 |
285 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
291 |
313 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
319 |
341 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
347 |
369 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
375 |
397 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
431 |
453 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
3.44e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168095
AA Change: F48L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130309
Gene: ENSMUSG00000059475
AA Change: F48L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
83 |
1.37e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169269
AA Change: F48L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128843
Gene: ENSMUSG00000059475
AA Change: F48L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
69 |
7.16e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kaposi's sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
T |
5: 113,841,842 (GRCm39) |
C92* |
probably null |
Het |
| A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
| Acaa1a |
A |
T |
9: 119,178,418 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,008,835 (GRCm39) |
E864G |
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,016,156 (GRCm39) |
D387G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,588,955 (GRCm39) |
H574Y |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,371,495 (GRCm39) |
E233K |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,355,525 (GRCm39) |
Y699F |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,092,101 (GRCm39) |
V251M |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,901,529 (GRCm39) |
A391V |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,974,210 (GRCm39) |
V2368G |
probably benign |
Het |
| Braf |
A |
G |
6: 39,639,085 (GRCm39) |
V222A |
probably damaging |
Het |
| Cd33 |
G |
T |
7: 43,182,871 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
T |
A |
5: 92,170,010 (GRCm39) |
K324N |
probably damaging |
Het |
| Celf6 |
A |
T |
9: 59,510,154 (GRCm39) |
T199S |
probably damaging |
Het |
| Cmtm4 |
A |
C |
8: 105,081,798 (GRCm39) |
D196E |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,535,451 (GRCm39) |
P921H |
unknown |
Het |
| Crmp1 |
T |
C |
5: 37,399,490 (GRCm39) |
M1T |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,543,262 (GRCm39) |
Y2303N |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,551,888 (GRCm39) |
T650K |
probably benign |
Het |
| Eif1ad15 |
A |
G |
12: 88,288,170 (GRCm39) |
F28L |
probably benign |
Het |
| Fam24a |
A |
G |
7: 130,938,269 (GRCm39) |
D53G |
probably benign |
Het |
| Foxa2 |
A |
T |
2: 147,886,626 (GRCm39) |
M69K |
probably benign |
Het |
| Gatad2a |
T |
A |
8: 70,362,585 (GRCm39) |
H601L |
probably damaging |
Het |
| Gimap4 |
A |
C |
6: 48,667,539 (GRCm39) |
D98A |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,501,623 (GRCm39) |
R371L |
possibly damaging |
Het |
| Golim4 |
G |
T |
3: 75,785,435 (GRCm39) |
A652E |
probably benign |
Het |
| Grid1 |
A |
G |
14: 34,748,899 (GRCm39) |
I240V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,272 (GRCm39) |
T400S |
unknown |
Het |
| Itk |
G |
A |
11: 46,225,735 (GRCm39) |
R539C |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,473,912 (GRCm39) |
D695V |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,839,441 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,298,710 (GRCm39) |
V129L |
possibly damaging |
Het |
| Lonrf1 |
C |
A |
8: 36,696,392 (GRCm39) |
E552D |
possibly damaging |
Het |
| Mpp3 |
A |
G |
11: 101,891,491 (GRCm39) |
I549T |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,394 (GRCm39) |
Y260H |
probably benign |
Het |
| Nipal2 |
T |
A |
15: 34,648,983 (GRCm39) |
K69* |
probably null |
Het |
| Nlrx1 |
G |
T |
9: 44,168,238 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,429,852 (GRCm39) |
A115E |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,673,810 (GRCm39) |
Y369H |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,943,431 (GRCm39) |
Y1286C |
possibly damaging |
Het |
| Poglut2 |
G |
T |
1: 44,151,924 (GRCm39) |
L322I |
possibly damaging |
Het |
| Pramel5 |
T |
C |
4: 143,999,529 (GRCm39) |
E186G |
possibly damaging |
Het |
| Qdpr |
C |
T |
5: 45,607,386 (GRCm39) |
G20D |
probably damaging |
Het |
| Rmnd1 |
T |
G |
10: 4,357,918 (GRCm39) |
I364L |
probably benign |
Het |
| Slc5a4a |
A |
T |
10: 76,022,369 (GRCm39) |
E568V |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,816,390 (GRCm39) |
I330F |
probably benign |
Het |
| Spesp1 |
T |
C |
9: 62,180,552 (GRCm39) |
T119A |
possibly damaging |
Het |
| Sypl1 |
G |
A |
12: 33,025,662 (GRCm39) |
S242N |
probably benign |
Het |
| Tbx18 |
G |
A |
9: 87,612,770 (GRCm39) |
T43M |
probably benign |
Het |
| Tm7sf2 |
T |
A |
19: 6,113,956 (GRCm39) |
D263V |
probably damaging |
Het |
| Trbv21 |
T |
C |
6: 41,179,924 (GRCm39) |
I80T |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,228,667 (GRCm39) |
L747Q |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,707,813 (GRCm39) |
D498G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,583,714 (GRCm39) |
Y22431C |
probably null |
Het |
| Ubtfl1 |
T |
A |
9: 18,321,637 (GRCm39) |
S388R |
|
Het |
| Vmn2r118 |
A |
T |
17: 55,917,835 (GRCm39) |
L226I |
possibly damaging |
Het |
| Wdr46 |
A |
G |
17: 34,168,156 (GRCm39) |
H576R |
probably benign |
Het |
|
| Other mutations in Zfp426 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01647:Zfp426
|
APN |
9 |
20,389,453 (GRCm39) |
start codon destroyed |
possibly damaging |
0.93 |
|
IGL02499:Zfp426
|
APN |
9 |
20,384,414 (GRCm39) |
splice site |
probably benign |
|
|
R0157:Zfp426
|
UTSW |
9 |
20,382,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0356:Zfp426
|
UTSW |
9 |
20,382,541 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0456:Zfp426
|
UTSW |
9 |
20,381,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Zfp426
|
UTSW |
9 |
20,381,327 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2352:Zfp426
|
UTSW |
9 |
20,381,401 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2507:Zfp426
|
UTSW |
9 |
20,381,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2509:Zfp426
|
UTSW |
9 |
20,381,977 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3771:Zfp426
|
UTSW |
9 |
20,384,413 (GRCm39) |
splice site |
probably null |
|
|
R3772:Zfp426
|
UTSW |
9 |
20,384,413 (GRCm39) |
splice site |
probably null |
|
|
R3773:Zfp426
|
UTSW |
9 |
20,384,413 (GRCm39) |
splice site |
probably null |
|
|
R3864:Zfp426
|
UTSW |
9 |
20,381,382 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4649:Zfp426
|
UTSW |
9 |
20,381,923 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4798:Zfp426
|
UTSW |
9 |
20,382,310 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4863:Zfp426
|
UTSW |
9 |
20,381,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Zfp426
|
UTSW |
9 |
20,386,369 (GRCm39) |
intron |
probably benign |
|
|
R5421:Zfp426
|
UTSW |
9 |
20,382,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6084:Zfp426
|
UTSW |
9 |
20,381,923 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6610:Zfp426
|
UTSW |
9 |
20,384,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Zfp426
|
UTSW |
9 |
20,381,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7441:Zfp426
|
UTSW |
9 |
20,382,147 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7646:Zfp426
|
UTSW |
9 |
20,381,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7827:Zfp426
|
UTSW |
9 |
20,381,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Zfp426
|
UTSW |
9 |
20,387,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Zfp426
|
UTSW |
9 |
20,386,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9450:Zfp426
|
UTSW |
9 |
20,381,577 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACTGTCTTATTCAGAGTTGC -3'
(R):5'- AGTCAAGTATTCCTACCACTACTCATG -3'
Sequencing Primer
(F):5'- GTTGCTATCACCACTCCTAAAATAG -3'
(R):5'- AGTAAAGCTACCTAACTCTGGTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation