Incidental Mutation 'R0356:Zfp426'
ID |
29829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp426
|
Ensembl Gene |
ENSMUSG00000059475 |
Gene Name |
zinc finger protein 426 |
Synonyms |
Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik |
MMRRC Submission |
038562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R0356 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20382541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 135
(T135A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127914
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080386]
[ENSMUST00000115562]
[ENSMUST00000163348]
[ENSMUST00000163427]
[ENSMUST00000164799]
[ENSMUST00000164825]
[ENSMUST00000169558]
[ENSMUST00000167457]
[ENSMUST00000166005]
[ENSMUST00000169269]
[ENSMUST00000168095]
|
AlphaFold |
Q8R1D1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080386
AA Change: T135A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000079250 Gene: ENSMUSG00000059475 AA Change: T135A
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: ENSMUST00000115562
AA Change: T135A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000111224 Gene: ENSMUSG00000059475 AA Change: T135A
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: ENSMUST00000163348
AA Change: T134A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000126446 Gene: ENSMUSG00000059475 AA Change: T134A
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
AA Change: T135A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000127914 Gene: ENSMUSG00000059475 AA Change: T135A
Domain | Start | End | E-Value | Type |
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169558
AA Change: T149A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000127045 Gene: ENSMUSG00000059475 AA Change: T149A
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 benign
Transcript: ENSMUST00000167457
AA Change: T68A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000130945 Gene: ENSMUSG00000059475 AA Change: T68A
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: ENSMUST00000166005
AA Change: T135A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000129727 Gene: ENSMUSG00000059475 AA Change: T135A
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: ENSMUST00000166465
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
100% (47/47) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly 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 |
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 |
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'- GCCGGTTTCTTCACTCTGACTGAAC -3'
(R):5'- TGTGCAATGAACCTCACTGCTCC -3'
Sequencing Primer
(F):5'- CTGACTGAACTCAGAAAGTTTCTCAC -3'
(R):5'- AAAGCACATCTTTTTCTTGGAGTGG -3'
|
Posted On |
2013-04-24 |