Incidental Mutation 'R5421:Zfp426'
| ID |
426576 |
| 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: 0.083)
|
| Stock # |
R5421 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20382015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 309
(A309V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080386]
[ENSMUST00000115562]
[ENSMUST00000163348]
[ENSMUST00000163427]
[ENSMUST00000164799]
[ENSMUST00000164825]
[ENSMUST00000166005]
[ENSMUST00000167457]
[ENSMUST00000169558]
[ENSMUST00000168095]
[ENSMUST00000169269]
|
| AlphaFold |
Q8R1D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080386
AA Change: A310V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: A310V
| 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: A310V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: A310V
| 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: A309V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: A309V
| 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: A310V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: A310V
| 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: ENSMUST00000167457
AA Change: A243V
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130945
Gene: ENSMUSG00000059475
AA Change: A243V
| 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 |
possibly damaging
Transcript: ENSMUST00000169558
AA Change: A324V
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: A324V
| 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: ENSMUST00000180846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166465
|
| 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: 97.1%
- 20x: 94.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
T |
15: 74,421,876 (GRCm39) |
Q882L |
probably damaging |
Het |
| Afdn |
T |
C |
17: 14,052,668 (GRCm39) |
V525A |
probably benign |
Het |
| AI987944 |
T |
C |
7: 41,024,200 (GRCm39) |
T263A |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,363,271 (GRCm39) |
S31G |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,241,504 (GRCm39) |
S685P |
probably benign |
Het |
| Blnk |
C |
A |
19: 40,956,967 (GRCm39) |
V47F |
probably damaging |
Het |
| Bmp4 |
T |
A |
14: 46,623,355 (GRCm39) |
M64L |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,909,577 (GRCm39) |
V1017E |
possibly damaging |
Het |
| C1ra |
C |
T |
6: 124,499,749 (GRCm39) |
P645L |
probably benign |
Het |
| Cadm2 |
A |
T |
16: 66,568,513 (GRCm39) |
C248* |
probably null |
Het |
| Cdk6 |
T |
C |
5: 3,523,120 (GRCm39) |
V180A |
probably damaging |
Het |
| Colec12 |
A |
T |
18: 9,858,580 (GRCm39) |
R454S |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,438,964 (GRCm39) |
S1111P |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,996,186 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,326,462 (GRCm39) |
T3613I |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,143,132 (GRCm39) |
Q115R |
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,545,655 (GRCm39) |
Y262H |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,047,690 (GRCm39) |
|
probably null |
Het |
| Flnb |
C |
T |
14: 7,926,494 (GRCm38) |
T1846I |
probably damaging |
Het |
| Folr2 |
C |
T |
7: 101,489,851 (GRCm39) |
R139H |
probably benign |
Het |
| Fxn |
A |
T |
19: 24,254,649 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
A |
C |
2: 54,747,908 (GRCm39) |
N263T |
probably damaging |
Het |
| Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
| Htr5a |
G |
T |
5: 28,055,985 (GRCm39) |
W325C |
possibly damaging |
Het |
| Itga4 |
T |
A |
2: 79,146,385 (GRCm39) |
Y772* |
probably null |
Het |
| Kif12 |
T |
C |
4: 63,089,665 (GRCm39) |
S59G |
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,836,473 (GRCm39) |
R96Q |
probably damaging |
Het |
| Klrd1 |
T |
C |
6: 129,575,406 (GRCm39) |
Y191H |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,428,008 (GRCm39) |
|
probably null |
Het |
| Nek1 |
A |
C |
8: 61,459,711 (GRCm39) |
R6S |
possibly damaging |
Het |
| Or4b13 |
G |
A |
2: 90,083,089 (GRCm39) |
T81I |
probably benign |
Het |
| Or5p68 |
G |
C |
7: 107,946,182 (GRCm39) |
A2G |
probably benign |
Het |
| Or6k8-ps1 |
C |
T |
1: 173,979,861 (GRCm39) |
R260* |
probably null |
Het |
| Palld |
C |
T |
8: 61,969,584 (GRCm39) |
E1005K |
probably damaging |
Het |
| Ppp2r1a |
T |
A |
17: 21,176,968 (GRCm39) |
Y169N |
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,565,773 (GRCm39) |
D960G |
probably benign |
Het |
| Rad51ap2 |
A |
T |
12: 11,509,368 (GRCm39) |
K915* |
probably null |
Het |
| Rasal2 |
T |
C |
1: 157,126,711 (GRCm39) |
K109R |
probably benign |
Het |
| Rc3h1 |
G |
A |
1: 160,779,400 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
C |
T |
5: 146,147,339 (GRCm39) |
V560I |
probably benign |
Het |
| Samd8 |
A |
G |
14: 21,842,563 (GRCm39) |
D295G |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,803,813 (GRCm39) |
L337P |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,451,581 (GRCm39) |
Y245H |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,722,079 (GRCm39) |
F268L |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,346 (GRCm39) |
T420A |
probably damaging |
Het |
| Speer4f2 |
A |
T |
5: 17,579,356 (GRCm39) |
T52S |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,043,095 (GRCm39) |
N1414D |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,911,261 (GRCm39) |
|
noncoding transcript |
Het |
| Syt9 |
T |
C |
7: 107,024,563 (GRCm39) |
V152A |
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,666,261 (GRCm39) |
N261I |
probably benign |
Het |
| Tln1 |
G |
A |
4: 43,533,609 (GRCm39) |
A2315V |
possibly damaging |
Het |
| Tox |
C |
A |
4: 6,842,409 (GRCm39) |
M40I |
possibly damaging |
Het |
| Ucp1 |
G |
A |
8: 84,017,320 (GRCm39) |
A37T |
probably benign |
Het |
| Vapa |
A |
G |
17: 65,902,031 (GRCm39) |
V33A |
possibly damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,803,882 (GRCm39) |
L231S |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,401 (GRCm39) |
A768T |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,805 (GRCm39) |
T604A |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
| Wwc1 |
C |
T |
11: 35,801,123 (GRCm39) |
E105K |
possibly damaging |
Het |
| Wwc1 |
T |
G |
11: 35,766,890 (GRCm39) |
D455A |
possibly damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,335 (GRCm39) |
N105K |
probably 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 |
|
|
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'- GTTGGATCAGTCGAGAGGAC -3'
(R):5'- TATGAGCCAGTCACACCTTCAG -3'
Sequencing Primer
(F):5'- GACGTAAGAAAGGCTTTCCCGC -3'
(R):5'- CTCACAGTGGAGACAAACTTTATG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation