Incidental Mutation 'IGL01647:Zfp426'
| ID |
102707 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 20389453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080386]
[ENSMUST00000115562]
[ENSMUST00000163348]
[ENSMUST00000163427]
[ENSMUST00000164250]
[ENSMUST00000164799]
[ENSMUST00000166005]
[ENSMUST00000164825]
[ENSMUST00000169269]
[ENSMUST00000169558]
[ENSMUST00000168095]
[ENSMUST00000167457]
|
| AlphaFold |
Q8R1D1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080386
AA Change: M1L
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: M1L
| 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: M1L
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: M1L
| 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 |
possibly damaging
Transcript: ENSMUST00000163348
AA Change: M1L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: M1L
| 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
AA Change: M1L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164250
AA Change: M1L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164799
AA Change: M1L
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130120
Gene: ENSMUSG00000059475
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
53 |
93 |
1.2e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166005
AA Change: M1L
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: M1L
| 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
AA Change: M1L
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127914
Gene: ENSMUSG00000059475
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169269
AA Change: M1L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128843
Gene: ENSMUSG00000059475
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
69 |
7.16e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169558
AA Change: M15L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: M15L
| 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: ENSMUST00000168095
AA Change: M1L
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130309
Gene: ENSMUSG00000059475
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
39 |
83 |
1.37e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,097 (GRCm39) |
D191V |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,498,156 (GRCm39) |
D382G |
probably damaging |
Het |
| Arhgef33 |
A |
T |
17: 80,672,695 (GRCm39) |
|
probably benign |
Het |
| Armc10 |
A |
G |
5: 21,851,091 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,191,172 (GRCm39) |
Q586L |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,609,982 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
C |
11: 29,454,321 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,825,296 (GRCm39) |
C1057S |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,688,087 (GRCm39) |
M14K |
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,868,593 (GRCm39) |
Y1463H |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,224 (GRCm39) |
E199* |
probably null |
Het |
| Gck |
A |
T |
11: 5,854,472 (GRCm39) |
M251K |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,525,570 (GRCm39) |
P14S |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,230,275 (GRCm39) |
K748* |
probably null |
Het |
| Kif15 |
T |
A |
9: 122,792,536 (GRCm39) |
|
probably benign |
Het |
| Ly6g6f |
A |
G |
17: 35,299,817 (GRCm39) |
|
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,517,146 (GRCm39) |
G358R |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,307,801 (GRCm39) |
|
probably benign |
Het |
| Or5m3b |
C |
T |
2: 85,872,441 (GRCm39) |
P261S |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,688,477 (GRCm39) |
I107F |
possibly damaging |
Het |
| Pcnt |
T |
A |
10: 76,205,835 (GRCm39) |
K2506* |
probably null |
Het |
| Pgc |
G |
T |
17: 48,043,329 (GRCm39) |
G226W |
probably damaging |
Het |
| Pip5k1a |
C |
T |
3: 94,981,383 (GRCm39) |
V82M |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,987,554 (GRCm39) |
V466A |
probably damaging |
Het |
| Prss44 |
C |
A |
9: 110,643,745 (GRCm39) |
Q130K |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,152 (GRCm39) |
Y66C |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,730,081 (GRCm39) |
E189G |
probably benign |
Het |
| Rtn4r |
G |
T |
16: 17,969,190 (GRCm39) |
R206L |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,600,366 (GRCm39) |
G4613E |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,417,587 (GRCm39) |
L19R |
possibly damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,957,653 (GRCm39) |
T139A |
possibly damaging |
Het |
| Slco2a1 |
T |
G |
9: 102,947,495 (GRCm39) |
S265A |
possibly damaging |
Het |
| Smad4 |
A |
G |
18: 73,773,544 (GRCm39) |
|
probably benign |
Het |
| St13 |
C |
T |
15: 81,255,708 (GRCm39) |
R240Q |
probably damaging |
Het |
| Tcea3 |
A |
C |
4: 136,002,087 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,600 (GRCm39) |
Y92C |
probably damaging |
Het |
| Wnt8b |
A |
T |
19: 44,499,704 (GRCm39) |
D151V |
probably damaging |
Het |
|
| Other mutations in Zfp426 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation