Incidental Mutation 'R3771:Zfp426'
ID |
273279 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp426
|
Ensembl Gene |
ENSMUSG00000059475 |
Gene Name |
zinc finger protein 426 |
Synonyms |
Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik |
MMRRC Submission |
040747-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R3771 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 20384413 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080386]
[ENSMUST00000115562]
[ENSMUST00000163348]
[ENSMUST00000163427]
[ENSMUST00000164250]
[ENSMUST00000169558]
[ENSMUST00000164799]
[ENSMUST00000164799]
[ENSMUST00000164825]
[ENSMUST00000164825]
[ENSMUST00000166005]
[ENSMUST00000166005]
[ENSMUST00000167457]
[ENSMUST00000168095]
[ENSMUST00000169269]
|
AlphaFold |
Q8R1D1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000080386
|
SMART Domains |
Protein: ENSMUSP00000079250 Gene: ENSMUSG00000059475
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 null
Transcript: ENSMUST00000115562
|
SMART Domains |
Protein: ENSMUSP00000111224 Gene: ENSMUSG00000059475
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 |
noncoding transcript
Transcript: ENSMUST00000157997
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163348
|
SMART Domains |
Protein: ENSMUSP00000126446 Gene: ENSMUSG00000059475
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 null
Transcript: ENSMUST00000169558
|
SMART Domains |
Protein: ENSMUSP00000127045 Gene: ENSMUSG00000059475
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 |
noncoding transcript
Transcript: ENSMUST00000166465
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164799
|
SMART Domains |
Protein: ENSMUSP00000130120 Gene: ENSMUSG00000059475
Domain | Start | End | E-Value | Type |
KRAB
|
53 |
93 |
1.2e-12 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164799
|
SMART Domains |
Protein: ENSMUSP00000130120 Gene: ENSMUSG00000059475
Domain | Start | End | E-Value | Type |
KRAB
|
53 |
93 |
1.2e-12 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164825
|
SMART Domains |
Protein: ENSMUSP00000127914 Gene: ENSMUSG00000059475
Domain | Start | End | E-Value | Type |
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164825
|
SMART Domains |
Protein: ENSMUSP00000127914 Gene: ENSMUSG00000059475
Domain | Start | End | E-Value | Type |
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166005
|
SMART Domains |
Protein: ENSMUSP00000129727 Gene: ENSMUSG00000059475
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 null
Transcript: ENSMUST00000166005
|
SMART Domains |
Protein: ENSMUSP00000129727 Gene: ENSMUSG00000059475
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 null
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 benign
Transcript: ENSMUST00000168095
|
SMART Domains |
Protein: ENSMUSP00000130309 Gene: ENSMUSG00000059475
Domain | Start | End | E-Value | Type |
KRAB
|
39 |
83 |
1.37e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
99% (69/70) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
G |
T |
11: 116,487,697 (GRCm39) |
G132V |
probably damaging |
Het |
Abcb11 |
T |
A |
2: 69,159,720 (GRCm39) |
|
probably benign |
Het |
Adam26b |
T |
A |
8: 43,973,751 (GRCm39) |
D417V |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,613,913 (GRCm39) |
S1482P |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,908,130 (GRCm39) |
Y377H |
probably damaging |
Het |
Armc2 |
C |
T |
10: 41,798,223 (GRCm39) |
V768M |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,596,814 (GRCm39) |
|
probably benign |
Het |
Birc6 |
T |
A |
17: 74,925,424 (GRCm39) |
|
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh12 |
A |
T |
15: 21,578,640 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
G |
17: 17,594,913 (GRCm39) |
D16G |
probably damaging |
Het |
Clstn2 |
A |
G |
9: 97,464,615 (GRCm39) |
I180T |
probably damaging |
Het |
Cxcr6 |
A |
G |
9: 123,639,550 (GRCm39) |
I184V |
probably benign |
Het |
Dagla |
G |
A |
19: 10,225,831 (GRCm39) |
P778S |
possibly damaging |
Het |
Ddx19b |
T |
C |
8: 111,747,613 (GRCm39) |
K107R |
probably benign |
Het |
Dpyd |
G |
A |
3: 119,205,927 (GRCm39) |
|
probably null |
Het |
Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
Fam13a |
T |
G |
6: 58,964,171 (GRCm39) |
K87T |
probably benign |
Het |
Fap |
C |
A |
2: 62,363,354 (GRCm39) |
S359I |
probably damaging |
Het |
Fbxo39 |
T |
C |
11: 72,208,041 (GRCm39) |
I131T |
possibly damaging |
Het |
Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
Gm5866 |
T |
C |
5: 52,740,088 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
Irf2bp2 |
T |
C |
8: 127,318,550 (GRCm39) |
K339E |
probably damaging |
Het |
Kat6b |
A |
G |
14: 21,567,166 (GRCm39) |
D75G |
probably damaging |
Het |
Kcnab3 |
A |
G |
11: 69,219,389 (GRCm39) |
T127A |
probably damaging |
Het |
Kdm5b |
G |
T |
1: 134,541,083 (GRCm39) |
C725F |
probably damaging |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Lrrn3 |
T |
A |
12: 41,502,869 (GRCm39) |
I483L |
probably damaging |
Het |
Man2c1 |
C |
A |
9: 57,047,661 (GRCm39) |
|
probably benign |
Het |
Med23 |
G |
T |
10: 24,778,099 (GRCm39) |
G810C |
probably damaging |
Het |
Nhlrc4 |
T |
A |
17: 26,162,367 (GRCm39) |
K127* |
probably null |
Het |
Numb |
T |
C |
12: 83,846,350 (GRCm39) |
D344G |
probably damaging |
Het |
Nup210l |
T |
G |
3: 90,027,201 (GRCm39) |
Y194* |
probably null |
Het |
Ogg1 |
T |
C |
6: 113,310,804 (GRCm39) |
V317A |
possibly damaging |
Het |
Or1o2 |
T |
A |
17: 37,542,356 (GRCm39) |
I302F |
possibly damaging |
Het |
Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,589,422 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,088,174 (GRCm39) |
M195T |
probably benign |
Het |
Polr3c |
T |
A |
3: 96,633,170 (GRCm39) |
T43S |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
Rasl10b |
A |
T |
11: 83,309,349 (GRCm39) |
T134S |
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
Ros1 |
G |
T |
10: 52,005,087 (GRCm39) |
A949E |
probably damaging |
Het |
Rwdd2a |
A |
C |
9: 86,456,214 (GRCm39) |
N130T |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,066,309 (GRCm39) |
K579R |
probably benign |
Het |
Sun1 |
A |
G |
5: 139,224,575 (GRCm39) |
|
probably benign |
Het |
Tc2n |
T |
A |
12: 101,660,833 (GRCm39) |
Q133L |
possibly damaging |
Het |
Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
Tex2 |
T |
C |
11: 106,437,720 (GRCm39) |
D650G |
unknown |
Het |
Trio |
A |
G |
15: 27,748,177 (GRCm39) |
S2492P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
Ugcg |
T |
C |
4: 59,189,690 (GRCm39) |
F16S |
probably benign |
Het |
Usp16 |
T |
C |
16: 87,255,571 (GRCm39) |
M1T |
probably null |
Het |
Vmn1r60 |
C |
A |
7: 5,547,710 (GRCm39) |
C130F |
possibly damaging |
Het |
Vmn2r101 |
A |
G |
17: 19,809,919 (GRCm39) |
D235G |
probably benign |
Het |
Vpreb3 |
A |
T |
10: 75,775,800 (GRCm39) |
V26E |
probably benign |
Het |
Vps39 |
C |
T |
2: 120,172,497 (GRCm39) |
V179I |
possibly damaging |
Het |
Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
Zfp61 |
T |
C |
7: 23,995,406 (GRCm39) |
M1V |
probably null |
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 |
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'- TTCATCAATCCATTCACTTACTGAG -3'
(R):5'- GTGGGACTTGCATTACCAATCC -3'
Sequencing Primer
(F):5'- GGCTTGGTCGAAAACGCCTTTAC -3'
(R):5'- CACTTCTGGAATTCAAGTACCTGGG -3'
|
Posted On |
2015-03-25 |