Incidental Mutation 'R0456:Zfp426'
| ID |
40029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp426
|
| Ensembl Gene |
ENSMUSG00000059475 |
| Gene Name |
zinc finger protein 426 |
| Synonyms |
Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik |
| MMRRC Submission |
038656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20381593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 465
(F465L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080386]
[ENSMUST00000115562]
[ENSMUST00000163348]
[ENSMUST00000163427]
[ENSMUST00000164799]
[ENSMUST00000164825]
[ENSMUST00000166005]
[ENSMUST00000169558]
[ENSMUST00000167457]
[ENSMUST00000168095]
[ENSMUST00000169269]
|
| AlphaFold |
Q8R1D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080386
AA Change: F451L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: F451L
| 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: F451L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: F451L
| 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: F450L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: F450L
| 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: ENSMUST00000164799
|
| SMART Domains |
Protein: ENSMUSP00000130120
Gene: ENSMUSG00000059475
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
53 |
93 |
1.2e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164825
|
| SMART Domains |
Protein: ENSMUSP00000127914
Gene: ENSMUSG00000059475
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166005
AA Change: F451L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: F451L
| 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: ENSMUST00000169558
AA Change: F465L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: F465L
| 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: ENSMUST00000167457
AA Change: F384L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130945
Gene: ENSMUSG00000059475
AA Change: F384L
| 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 |
noncoding transcript
Transcript: ENSMUST00000166465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168095
|
| SMART Domains |
Protein: ENSMUSP00000130309
Gene: ENSMUSG00000059475
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
83 |
1.37e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169269
|
| SMART Domains |
Protein: ENSMUSP00000128843
Gene: ENSMUSG00000059475
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
69 |
7.16e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,429,036 (GRCm39) |
P11L |
probably damaging |
Het |
| Antxr1 |
A |
C |
6: 87,194,257 (GRCm39) |
V347G |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,051,492 (GRCm39) |
N1127D |
probably benign |
Het |
| Bivm |
T |
A |
1: 44,165,969 (GRCm39) |
W140R |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,494,776 (GRCm39) |
V928A |
possibly damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,795 (GRCm39) |
Y152H |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,550 (GRCm39) |
I268F |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,839,100 (GRCm39) |
N439K |
probably damaging |
Het |
| Csf3r |
C |
A |
4: 125,929,654 (GRCm39) |
N392K |
probably damaging |
Het |
| Cyp1b1 |
T |
C |
17: 80,017,704 (GRCm39) |
I484V |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,169 (GRCm39) |
K280E |
probably damaging |
Het |
| Eefsec |
A |
G |
6: 88,274,870 (GRCm39) |
Y365H |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,142,843 (GRCm39) |
|
probably null |
Het |
| Erap1 |
G |
A |
13: 74,812,339 (GRCm39) |
V385I |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,482,571 (GRCm39) |
I3077F |
probably damaging |
Het |
| Fras1 |
T |
G |
5: 96,862,202 (GRCm39) |
|
probably null |
Het |
| Fras1 |
G |
T |
5: 96,702,647 (GRCm39) |
G230C |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,682 (GRCm39) |
M182T |
possibly damaging |
Het |
| Gzmg |
A |
G |
14: 56,395,779 (GRCm39) |
V60A |
probably damaging |
Het |
| H4c6 |
T |
C |
13: 23,735,561 (GRCm39) |
D86G |
probably damaging |
Het |
| Hapln4 |
A |
T |
8: 70,537,645 (GRCm39) |
Y113F |
probably benign |
Het |
| Ikzf4 |
T |
A |
10: 128,471,677 (GRCm39) |
T274S |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,774,885 (GRCm39) |
H302L |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,500,893 (GRCm39) |
V118A |
probably damaging |
Het |
| Kpna1 |
T |
C |
16: 35,823,270 (GRCm39) |
S41P |
possibly damaging |
Het |
| Krt23 |
A |
G |
11: 99,377,604 (GRCm39) |
V134A |
probably benign |
Het |
| Lamb1 |
G |
A |
12: 31,354,729 (GRCm39) |
C992Y |
probably damaging |
Het |
| Lrif1 |
C |
T |
3: 106,639,094 (GRCm39) |
P35S |
probably benign |
Het |
| Lrrc4 |
A |
G |
6: 28,831,103 (GRCm39) |
S171P |
probably damaging |
Het |
| Lvrn |
G |
A |
18: 46,997,883 (GRCm39) |
|
probably null |
Het |
| Matr3 |
T |
A |
18: 35,705,917 (GRCm39) |
F281I |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,495,162 (GRCm39) |
F199I |
probably damaging |
Het |
| Nxn |
G |
A |
11: 76,153,963 (GRCm39) |
Q291* |
probably null |
Het |
| Or5b113 |
A |
G |
19: 13,342,102 (GRCm39) |
T37A |
probably damaging |
Het |
| Pdp2 |
G |
T |
8: 105,320,421 (GRCm39) |
R90L |
probably damaging |
Het |
| Ppp1r3c |
C |
A |
19: 36,711,291 (GRCm39) |
E160* |
probably null |
Het |
| Ppp2r5c |
T |
G |
12: 110,489,013 (GRCm39) |
S118R |
probably damaging |
Het |
| Ptpn23 |
G |
T |
9: 110,218,861 (GRCm39) |
|
probably null |
Het |
| Ptpro |
G |
T |
6: 137,391,228 (GRCm39) |
V783L |
probably benign |
Het |
| Rab40c |
A |
G |
17: 26,103,631 (GRCm39) |
V144A |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 156,977,413 (GRCm39) |
N1087S |
probably damaging |
Het |
| Rfc3 |
T |
A |
5: 151,570,988 (GRCm39) |
S103C |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,155,823 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rit2 |
A |
T |
18: 31,108,504 (GRCm39) |
F160L |
probably benign |
Het |
| Rnh1 |
A |
G |
7: 140,742,461 (GRCm39) |
S366P |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,682,292 (GRCm39) |
Y2029C |
possibly damaging |
Het |
| Smpd3 |
T |
A |
8: 106,986,288 (GRCm39) |
I505F |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,642,483 (GRCm39) |
S379C |
possibly damaging |
Het |
| Sult1e1 |
A |
G |
5: 87,726,493 (GRCm39) |
L207P |
possibly damaging |
Het |
| Sycp2 |
C |
G |
2: 178,023,648 (GRCm39) |
S456T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,292,252 (GRCm39) |
T1339A |
probably benign |
Het |
| Tas2r117 |
A |
G |
6: 132,780,354 (GRCm39) |
N164S |
probably benign |
Het |
| Tigd3 |
A |
G |
19: 5,942,821 (GRCm39) |
L103P |
probably damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,788 (GRCm39) |
S965P |
probably damaging |
Het |
| Tmem82 |
T |
C |
4: 141,344,701 (GRCm39) |
T81A |
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,685,618 (GRCm39) |
T156A |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,982 (GRCm39) |
E198G |
probably benign |
Het |
| Tnpo2 |
A |
G |
8: 85,781,045 (GRCm39) |
N767S |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,104,102 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tst |
A |
G |
15: 78,289,780 (GRCm39) |
V85A |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,507,507 (GRCm39) |
N503K |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,590,435 (GRCm39) |
M2346I |
possibly damaging |
Het |
| Vax2 |
A |
G |
6: 83,688,388 (GRCm39) |
D37G |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,665 (GRCm39) |
L79* |
probably null |
Het |
| Zbtb3 |
A |
T |
19: 8,780,564 (GRCm39) |
D59V |
probably damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,602 (GRCm39) |
F182S |
probably benign |
Het |
| Zfp526 |
A |
G |
7: 24,925,637 (GRCm39) |
E632G |
probably damaging |
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 |
|
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 |
|
R8993:Zfp426
|
UTSW |
9 |
20,386,296 (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'- GTATGGCAACACAGCACTGCTCTAA -3'
(R):5'- AGAACTCACACAGGAGAGAAGCCTT -3'
Sequencing Primer
(F):5'- cttcctcacattgcttccatc -3'
(R):5'- TGAAATGTGGGAAAGCCTTTGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation