Incidental Mutation 'R7441:Zfp426'
ID |
576956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp426
|
Ensembl Gene |
ENSMUSG00000059475 |
Gene Name |
zinc finger protein 426 |
Synonyms |
Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik |
MMRRC Submission |
045517-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R7441 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20382147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 280
(E280G)
|
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: E266G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079250 Gene: ENSMUSG00000059475 AA Change: E266G
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: E266G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111224 Gene: ENSMUSG00000059475 AA Change: E266G
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: E265G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126446 Gene: ENSMUSG00000059475 AA Change: E265G
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: E266G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129727 Gene: ENSMUSG00000059475 AA Change: E266G
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 |
possibly damaging
Transcript: ENSMUST00000169558
AA Change: E280G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127045 Gene: ENSMUSG00000059475 AA Change: E280G
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: E199G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130945 Gene: ENSMUSG00000059475 AA Change: E199G
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
C |
2: 151,314,845 (GRCm39) |
S278A |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,251,554 (GRCm39) |
D411G |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,871,987 (GRCm39) |
I894V |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,477,392 (GRCm39) |
V725A |
possibly damaging |
Het |
Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,551,262 (GRCm39) |
R808G |
probably damaging |
Het |
Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
B3galnt2 |
G |
A |
13: 14,169,070 (GRCm39) |
V368M |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,177,132 (GRCm39) |
S2007P |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,087,254 (GRCm39) |
I1212N |
possibly damaging |
Het |
Dnajc16 |
A |
T |
4: 141,491,124 (GRCm39) |
D675E |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,462,503 (GRCm39) |
F4L |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,708,549 (GRCm39) |
I707N |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,302,377 (GRCm39) |
T1555A |
probably benign |
Het |
Erc1 |
G |
A |
6: 119,801,912 (GRCm39) |
T35I |
possibly damaging |
Het |
Esr2 |
C |
A |
12: 76,188,168 (GRCm39) |
M363I |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,749,000 (GRCm39) |
N446I |
possibly damaging |
Het |
Evpl |
T |
A |
11: 116,113,782 (GRCm39) |
K1303* |
probably null |
Het |
Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
Fam186b |
A |
G |
15: 99,177,970 (GRCm39) |
L452P |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
Gtf3c3 |
G |
A |
1: 54,459,607 (GRCm39) |
T385M |
probably benign |
Het |
Iqgap2 |
C |
A |
13: 95,764,584 (GRCm39) |
M1553I |
probably benign |
Het |
Kcnk1 |
G |
T |
8: 126,722,307 (GRCm39) |
G37C |
probably damaging |
Het |
Kifc3 |
T |
C |
8: 95,864,615 (GRCm39) |
M32V |
probably benign |
Het |
Krt81 |
C |
A |
15: 101,359,251 (GRCm39) |
K222N |
possibly damaging |
Het |
Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
Mybbp1a |
T |
A |
11: 72,342,101 (GRCm39) |
V1279E |
probably benign |
Het |
Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
Or11g26 |
A |
T |
14: 50,752,853 (GRCm39) |
Y64F |
probably damaging |
Het |
Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
A |
G |
4: 143,145,410 (GRCm39) |
Y293C |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,512,416 (GRCm39) |
V407A |
probably benign |
Het |
Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
Scn11a |
C |
T |
9: 119,587,692 (GRCm39) |
V1351I |
probably benign |
Het |
Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
Swt1 |
A |
T |
1: 151,286,815 (GRCm39) |
F226I |
probably benign |
Het |
Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
Timd5 |
G |
A |
11: 46,419,382 (GRCm39) |
W66* |
probably null |
Het |
Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
Zfp810 |
C |
A |
9: 22,190,568 (GRCm39) |
E78* |
probably null |
Het |
Zfp937 |
GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT |
G |
2: 150,080,630 (GRCm39) |
|
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 |
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 |
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'- GTTGGATCAGTCGAGAGGAC -3'
(R):5'- TGAAGAAACCGGCATGACC -3'
Sequencing Primer
(F):5'- CCAGTGTGAGACCTTACATGGATAC -3'
(R):5'- CGGCATGACCCCAGTTAAAGAG -3'
|
Posted On |
2019-10-07 |