Incidental Mutation 'R4894:Zfp426'
ID |
472626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp426
|
Ensembl Gene |
ENSMUSG00000059475 |
Gene Name |
zinc finger protein 426 |
Synonyms |
Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R4894 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 20386369 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]
[ENSMUST00000164799]
[ENSMUST00000169558]
[ENSMUST00000166005]
[ENSMUST00000164825]
[ENSMUST00000167457]
[ENSMUST00000168095]
[ENSMUST00000169269]
|
AlphaFold |
Q8R1D1 |
Predicted Effect |
probably benign
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 benign
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 benign
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 |
unknown
Transcript: ENSMUST00000164799
AA Change: S37R
|
SMART Domains |
Protein: ENSMUSP00000130120 Gene: ENSMUSG00000059475 AA Change: S37R
Domain | Start | End | E-Value | Type |
KRAB
|
53 |
93 |
1.2e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
Predicted Effect |
probably benign
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 |
probably benign
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 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 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 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
C |
A |
17: 43,609,975 (GRCm39) |
Y176* |
probably null |
Het |
Akap13 |
T |
A |
7: 75,375,068 (GRCm39) |
M1900K |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,585,332 (GRCm39) |
E381G |
probably damaging |
Het |
Ap3s1 |
T |
C |
18: 46,891,183 (GRCm39) |
|
probably null |
Het |
Cacna1e |
G |
T |
1: 154,364,551 (GRCm39) |
S341* |
probably null |
Het |
Camk1d |
G |
A |
2: 5,359,539 (GRCm39) |
S161L |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,173,630 (GRCm39) |
H1619Q |
probably benign |
Het |
Chd7 |
T |
A |
4: 8,838,629 (GRCm39) |
I1276N |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,719,662 (GRCm39) |
V436A |
probably damaging |
Het |
Ctcfl |
G |
A |
2: 172,959,196 (GRCm39) |
P177S |
probably benign |
Het |
Dab2ip |
A |
G |
2: 35,620,539 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Epc1 |
A |
T |
18: 6,449,011 (GRCm39) |
S495R |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,230,758 (GRCm39) |
|
probably null |
Het |
Eya4 |
T |
C |
10: 22,985,753 (GRCm39) |
E583G |
possibly damaging |
Het |
Fam111a |
C |
G |
19: 12,565,913 (GRCm39) |
T554R |
probably benign |
Het |
Fbh1 |
A |
T |
2: 11,767,771 (GRCm39) |
I359N |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,490,751 (GRCm39) |
C1023R |
probably damaging |
Het |
Helz2 |
G |
C |
2: 180,877,940 (GRCm39) |
P953A |
probably benign |
Het |
Ifi204 |
G |
T |
1: 173,587,808 (GRCm39) |
S117Y |
probably damaging |
Het |
Ift70a1 |
T |
C |
2: 75,810,088 (GRCm39) |
*665W |
probably null |
Het |
Igfn1 |
G |
A |
1: 135,882,520 (GRCm39) |
T2775M |
probably damaging |
Het |
Igsf9 |
A |
G |
1: 172,325,634 (GRCm39) |
T1101A |
probably benign |
Het |
Ipo13 |
A |
C |
4: 117,760,638 (GRCm39) |
I614S |
probably damaging |
Het |
Ipo13 |
A |
G |
4: 117,761,687 (GRCm39) |
I476T |
possibly damaging |
Het |
Kdm2b |
C |
A |
5: 123,079,030 (GRCm39) |
E308* |
probably null |
Het |
Klhl20 |
A |
T |
1: 160,937,102 (GRCm39) |
M91K |
possibly damaging |
Het |
Klrb1f |
T |
C |
6: 129,030,151 (GRCm39) |
F64L |
probably benign |
Het |
Ldlrad3 |
C |
T |
2: 101,888,293 (GRCm39) |
C106Y |
probably damaging |
Het |
Lilra6 |
T |
C |
7: 3,915,530 (GRCm39) |
T161A |
probably benign |
Het |
Lrriq1 |
A |
T |
10: 102,997,613 (GRCm39) |
M1334K |
possibly damaging |
Het |
Mepe |
C |
G |
5: 104,473,268 (GRCm39) |
P3R |
probably damaging |
Het |
Mgat4e |
A |
G |
1: 134,468,856 (GRCm39) |
V396A |
probably benign |
Het |
Nfx1 |
T |
G |
4: 40,996,877 (GRCm39) |
S651A |
probably damaging |
Het |
Or10ak13 |
A |
T |
4: 118,639,483 (GRCm39) |
C100S |
probably damaging |
Het |
Or2w6 |
T |
C |
13: 21,843,352 (GRCm39) |
N47S |
probably damaging |
Het |
Or4c109 |
T |
C |
2: 88,817,783 (GRCm39) |
I254M |
possibly damaging |
Het |
Rag2 |
T |
C |
2: 101,460,022 (GRCm39) |
S111P |
probably damaging |
Het |
Rai1 |
T |
A |
11: 60,077,572 (GRCm39) |
D545E |
probably damaging |
Het |
Ralgps1 |
A |
G |
2: 33,033,115 (GRCm39) |
V498A |
possibly damaging |
Het |
Rasal2 |
G |
A |
1: 157,020,374 (GRCm39) |
S205L |
probably damaging |
Het |
Rec8 |
T |
C |
14: 55,862,787 (GRCm39) |
L582P |
probably damaging |
Het |
Retn |
G |
A |
8: 3,707,358 (GRCm39) |
R106H |
probably damaging |
Het |
Rnf112 |
A |
G |
11: 61,343,488 (GRCm39) |
L116P |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,372,066 (GRCm39) |
Y4885H |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,411,409 (GRCm39) |
I399M |
probably benign |
Het |
Sez6 |
G |
T |
11: 77,866,086 (GRCm39) |
G738V |
probably damaging |
Het |
Spata17 |
A |
G |
1: 186,872,643 (GRCm39) |
V56A |
probably benign |
Het |
Spata31d1a |
A |
T |
13: 59,849,542 (GRCm39) |
V862D |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,671,768 (GRCm39) |
|
probably null |
Het |
Srpk2 |
C |
A |
5: 23,750,527 (GRCm39) |
G59W |
probably damaging |
Het |
Tyro3 |
T |
C |
2: 119,632,779 (GRCm39) |
S96P |
probably damaging |
Het |
Ube2v1 |
A |
G |
2: 167,452,280 (GRCm39) |
S108P |
probably damaging |
Het |
Usp2 |
C |
T |
9: 43,987,125 (GRCm39) |
S141L |
probably benign |
Het |
Vamp5 |
T |
C |
6: 72,347,181 (GRCm39) |
D46G |
possibly damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,310 (GRCm39) |
Q156L |
probably benign |
Het |
Vmn2r6 |
C |
T |
3: 64,454,829 (GRCm39) |
S490N |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,183,440 (GRCm39) |
I10N |
probably damaging |
Het |
Vwf |
C |
T |
6: 125,622,897 (GRCm39) |
Q1755* |
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,877,717 (GRCm39) |
H82Q |
probably benign |
Het |
Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
Wdr72 |
A |
G |
9: 74,117,843 (GRCm39) |
T852A |
probably benign |
Het |
Zfp1 |
T |
A |
8: 112,396,355 (GRCm39) |
C92* |
probably null |
Het |
Zfp1004 |
T |
A |
2: 150,033,899 (GRCm39) |
C104* |
probably null |
Het |
Zfp442 |
C |
T |
2: 150,253,130 (GRCm39) |
|
probably null |
Het |
Zfp74 |
T |
C |
7: 29,635,470 (GRCm39) |
|
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 |
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'- AGCTCATAAGGGGCTATGGCAG -3'
(R):5'- AGTCAAGTATTCCTACCACTACTCATG -3'
Sequencing Primer
(F):5'- CTATGGCAGCAGAGCAGC -3'
(R):5'- GTATACATATACACACTCACAGACAC -3'
|
Posted On |
2017-04-14 |