Incidental Mutation 'R7646:Zfp426'
| ID |
590548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp426
|
| Ensembl Gene |
ENSMUSG00000059475 |
| Gene Name |
zinc finger protein 426 |
| Synonyms |
Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik |
| MMRRC Submission |
045724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7646 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20381320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 556
(S556T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000080386
AA Change: S542T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: S542T
| 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: ENSMUST00000115562
AA Change: S542T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: S542T
| 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: ENSMUST00000163348
AA Change: S541T
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: S541T
| 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 |
possibly damaging
Transcript: ENSMUST00000166005
AA Change: S542T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: S542T
| 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: S556T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: S556T
| 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 |
possibly damaging
Transcript: ENSMUST00000167457
AA Change: S475T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130945
Gene: ENSMUSG00000059475
AA Change: S475T
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,113,937 (GRCm39) |
H936R |
probably benign |
Het |
| Afg3l1 |
C |
A |
8: 124,219,766 (GRCm39) |
D431E |
possibly damaging |
Het |
| Agrn |
T |
C |
4: 156,279,811 (GRCm39) |
N120S |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,059,189 (GRCm39) |
D2557G |
probably damaging |
Het |
| Atl2 |
A |
G |
17: 80,162,036 (GRCm39) |
Y359H |
probably damaging |
Het |
| Banp |
T |
C |
8: 122,750,775 (GRCm39) |
S489P |
possibly damaging |
Het |
| Cage1 |
A |
G |
13: 38,206,823 (GRCm39) |
C341R |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,140,931 (GRCm39) |
N3139S |
possibly damaging |
Het |
| Chd2 |
G |
T |
7: 73,085,521 (GRCm39) |
S1704R |
possibly damaging |
Het |
| Col4a2 |
T |
A |
8: 11,495,086 (GRCm39) |
F1515I |
probably benign |
Het |
| Crocc |
T |
A |
4: 140,748,966 (GRCm39) |
Q1613L |
probably null |
Het |
| Cttnbp2 |
A |
T |
6: 18,375,939 (GRCm39) |
S1533R |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,636,976 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,868,651 (GRCm39) |
D362N |
probably benign |
Het |
| Elf5 |
G |
T |
2: 103,269,588 (GRCm39) |
K56N |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,560 (GRCm39) |
P508S |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,067,704 (GRCm39) |
H1055R |
probably benign |
Het |
| Fh1 |
C |
T |
1: 175,442,479 (GRCm39) |
V124I |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,272,111 (GRCm39) |
D1610E |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,155,257 (GRCm39) |
K415E |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,836,361 (GRCm39) |
D496G |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,784,361 (GRCm39) |
I1342V |
probably benign |
Het |
| Hoxa7 |
A |
G |
6: 52,192,699 (GRCm39) |
*230Q |
probably null |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,542,281 (GRCm39) |
M271K |
possibly damaging |
Het |
| Klk1b22 |
T |
G |
7: 43,765,542 (GRCm39) |
|
probably null |
Het |
| Lig3 |
T |
A |
11: 82,674,304 (GRCm39) |
N43K |
probably benign |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,360 (GRCm39) |
T83A |
possibly damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,298,498 (GRCm39) |
S2179T |
possibly damaging |
Het |
| Mrpl38 |
G |
A |
11: 116,023,593 (GRCm39) |
S282L |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,774,527 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
C |
G |
7: 26,148,987 (GRCm39) |
A198G |
probably damaging |
Het |
| Nup98 |
A |
C |
7: 101,803,242 (GRCm39) |
S653A |
probably benign |
Het |
| Or12e8 |
A |
G |
2: 87,188,102 (GRCm39) |
I105V |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,864 (GRCm39) |
F13L |
probably damaging |
Het |
| Or14j10 |
G |
T |
17: 37,935,295 (GRCm39) |
T77K |
probably damaging |
Het |
| Or51ai2 |
G |
A |
7: 103,587,504 (GRCm39) |
A306T |
probably damaging |
Het |
| Or8k37 |
C |
A |
2: 86,469,513 (GRCm39) |
D180Y |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,570,909 (GRCm39) |
D98V |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,221 (GRCm39) |
D1000E |
probably benign |
Het |
| Polr3h |
A |
G |
15: 81,801,571 (GRCm39) |
Y131H |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,516,780 (GRCm39) |
I346V |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,301,436 (GRCm39) |
K332M |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,118,102 (GRCm39) |
M404V |
possibly damaging |
Het |
| Septin8 |
T |
A |
11: 53,428,744 (GRCm39) |
|
probably null |
Het |
| Sesn3 |
A |
G |
9: 14,219,911 (GRCm39) |
D100G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,067,561 (GRCm39) |
I2388V |
possibly damaging |
Het |
| Skint5 |
T |
A |
4: 113,620,739 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
C |
T |
17: 57,366,759 (GRCm39) |
|
probably benign |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 74,154,344 (GRCm39) |
A76V |
probably damaging |
Het |
| Stradb |
A |
T |
1: 59,033,567 (GRCm39) |
D410V |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,122,949 (GRCm39) |
D329G |
probably damaging |
Het |
| Syt4 |
A |
C |
18: 31,574,658 (GRCm39) |
S320A |
possibly damaging |
Het |
| Tnfsf4 |
A |
G |
1: 161,244,733 (GRCm39) |
T141A |
possibly damaging |
Het |
| Trim34b |
G |
A |
7: 103,984,559 (GRCm39) |
A279T |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,845,325 (GRCm39) |
D1675V |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,169 (GRCm39) |
M832K |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,079,104 (GRCm39) |
V246A |
probably benign |
Het |
| Xkr6 |
G |
T |
14: 63,844,423 (GRCm39) |
D149Y |
probably damaging |
Het |
| Zfp108 |
A |
G |
7: 23,960,840 (GRCm39) |
Y477C |
probably damaging |
Het |
| Zfp37 |
T |
G |
4: 62,109,532 (GRCm39) |
I552L |
probably damaging |
Het |
| Zfp954 |
G |
A |
7: 7,118,720 (GRCm39) |
L275F |
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 |
|
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 |
|
R7441:Zfp426
|
UTSW |
9 |
20,382,147 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- GTGTTGCTCAGTATGGCAAC -3'
(R):5'- AAATGTGGGAAAGCCTTTGC -3'
Sequencing Primer
(F):5'- CACAGCACTGCTCTAAGCTAAGTATC -3'
(R):5'- GTGGGAAGGCCTTTAACTATTCCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation