Incidental Mutation 'R6610:Zfp426'
ID |
525898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp426
|
Ensembl Gene |
ENSMUSG00000059475 |
Gene Name |
zinc finger protein 426 |
Synonyms |
Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik |
MMRRC Submission |
044733-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R6610 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
20379845-20404042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20384389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 98
(K98R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080386]
[ENSMUST00000115562]
[ENSMUST00000163348]
[ENSMUST00000163427]
[ENSMUST00000164250]
[ENSMUST00000169558]
[ENSMUST00000164825]
[ENSMUST00000166005]
[ENSMUST00000167457]
[ENSMUST00000168095]
[ENSMUST00000164799]
[ENSMUST00000169269]
|
AlphaFold |
Q8R1D1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080386
AA Change: K84R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079250 Gene: ENSMUSG00000059475 AA Change: K84R
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: K84R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111224 Gene: ENSMUSG00000059475 AA Change: K84R
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
AA Change: K84R
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126446 Gene: ENSMUSG00000059475 AA Change: K84R
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: N42D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164250
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169558
AA Change: K98R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127045 Gene: ENSMUSG00000059475 AA Change: K98R
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: ENSMUST00000164825
AA Change: K84R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127914 Gene: ENSMUSG00000059475 AA Change: K84R
Domain | Start | End | E-Value | Type |
KRAB
|
39 |
99 |
5.56e-31 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166005
AA Change: K84R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129727 Gene: ENSMUSG00000059475 AA Change: K84R
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: K17R
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130945 Gene: ENSMUSG00000059475 AA Change: K17R
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
AA Change: N83D
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130309 Gene: ENSMUSG00000059475 AA Change: N83D
Domain | Start | End | E-Value | Type |
KRAB
|
39 |
83 |
1.37e-12 |
SMART |
|
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: ENSMUST00000169269
|
SMART Domains |
Protein: ENSMUSP00000128843 Gene: ENSMUSG00000059475
Domain | Start | End | E-Value | Type |
KRAB
|
39 |
69 |
7.16e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166465
|
Meta Mutation Damage Score |
0.1367 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (42/42) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
A |
T |
9: 21,437,561 (GRCm39) |
M1L |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,974,190 (GRCm39) |
K271E |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,694,246 (GRCm39) |
I914T |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,612,013 (GRCm39) |
R396G |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,104,505 (GRCm39) |
K2173E |
probably benign |
Het |
Cbx2 |
A |
G |
11: 118,915,036 (GRCm39) |
D51G |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 57,976,419 (GRCm39) |
T532S |
possibly damaging |
Het |
Ccnt1 |
T |
C |
15: 98,462,982 (GRCm39) |
I63M |
probably damaging |
Het |
Cdc20b |
C |
T |
13: 113,200,796 (GRCm39) |
T172I |
probably benign |
Het |
Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
Ces2f |
T |
G |
8: 105,676,738 (GRCm39) |
|
probably null |
Het |
Cfh |
A |
T |
1: 140,029,486 (GRCm39) |
C597* |
probably null |
Het |
Cntnap2 |
A |
T |
6: 45,992,191 (GRCm39) |
T373S |
probably benign |
Het |
Cyb5r4 |
T |
G |
9: 86,941,470 (GRCm39) |
C64G |
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 43,995,520 (GRCm39) |
F416L |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Eif4e1b |
A |
G |
13: 54,932,128 (GRCm39) |
|
probably benign |
Het |
Elp1 |
A |
G |
4: 56,758,236 (GRCm39) |
V1227A |
probably benign |
Het |
Etl4 |
G |
A |
2: 20,718,180 (GRCm39) |
R256K |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,643,707 (GRCm39) |
L1054P |
possibly damaging |
Het |
Grik1 |
A |
G |
16: 87,831,200 (GRCm39) |
I190T |
probably damaging |
Het |
Gsdmc2 |
T |
C |
15: 63,696,857 (GRCm39) |
N438S |
probably benign |
Het |
Igkv15-103 |
A |
T |
6: 68,414,617 (GRCm39) |
R19* |
probably null |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Lhcgr |
A |
T |
17: 89,077,307 (GRCm39) |
I93K |
possibly damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Mymk |
G |
T |
2: 26,957,405 (GRCm39) |
S29R |
possibly damaging |
Het |
Nab2 |
A |
T |
10: 127,500,207 (GRCm39) |
I295N |
probably damaging |
Het |
Neu2 |
A |
T |
1: 87,524,407 (GRCm39) |
T131S |
probably benign |
Het |
Pdcd7 |
T |
A |
9: 65,261,965 (GRCm39) |
M129K |
possibly damaging |
Het |
Ptar1 |
A |
G |
19: 23,695,208 (GRCm39) |
H225R |
probably benign |
Het |
Pygb |
T |
A |
2: 150,665,886 (GRCm39) |
|
probably null |
Het |
Rpap3 |
T |
C |
15: 97,586,049 (GRCm39) |
D314G |
probably benign |
Het |
Scara3 |
A |
G |
14: 66,168,670 (GRCm39) |
S316P |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,587,483 (GRCm39) |
V1051I |
probably benign |
Het |
Setdb1 |
G |
T |
3: 95,235,888 (GRCm39) |
A841D |
probably damaging |
Het |
Stk32b |
G |
A |
5: 37,606,022 (GRCm39) |
T407I |
probably benign |
Het |
Tcte2 |
G |
A |
17: 13,948,250 (GRCm39) |
Q10* |
probably null |
Het |
Tgm2 |
C |
A |
2: 157,985,020 (GRCm39) |
E29* |
probably null |
Het |
Trim32 |
G |
A |
4: 65,533,308 (GRCm39) |
V622M |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
Vmn1r123 |
A |
G |
7: 20,896,515 (GRCm39) |
N136D |
probably benign |
Het |
Vmn2r31 |
A |
T |
7: 7,387,588 (GRCm39) |
V661E |
probably damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,261,838 (GRCm39) |
F166L |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
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 |
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'- CATTCATCAATCCATTCACTTACTGAG -3'
(R):5'- TGGGACTTGCATTACCAATCC -3'
Sequencing Primer
(F):5'- GGCTTGGTCGAAAACGCCTTTAC -3'
(R):5'- CACTTCTGGAATTCAAGTACCTGGG -3'
|
Posted On |
2018-06-22 |