Incidental Mutation 'IGL02659:Zfp286'
| ID |
302481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp286
|
| Ensembl Gene |
ENSMUSG00000047342 |
| Gene Name |
zinc finger protein 286 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
62643403-62680288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62674563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 94
(N94S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054654]
[ENSMUST00000108705]
[ENSMUST00000207597]
|
| AlphaFold |
Q8C0E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054654
AA Change: N94S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000055517
Gene: ENSMUSG00000047342
AA Change: N94S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
50 |
114 |
1.2e-17 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
1.15e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108705
AA Change: N94S
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104345
Gene: ENSMUSG00000047342
AA Change: N94S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
50 |
114 |
1.2e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149230
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207597
AA Change: N94S
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152602
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
T |
14: 29,708,298 (GRCm39) |
N192I |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,953,849 (GRCm39) |
I192F |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,379 (GRCm39) |
F971L |
probably benign |
Het |
| Cacna1e |
G |
T |
1: 154,302,274 (GRCm39) |
F1660L |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,421,469 (GRCm39) |
T1087M |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,559,202 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,573,115 (GRCm39) |
D219G |
unknown |
Het |
| Desi2 |
G |
A |
1: 178,076,843 (GRCm39) |
A116T |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,665 (GRCm39) |
Q202L |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,405,895 (GRCm39) |
P715L |
probably damaging |
Het |
| Higd1c |
A |
T |
15: 100,281,622 (GRCm39) |
M249L |
probably benign |
Het |
| Il5ra |
T |
A |
6: 106,719,644 (GRCm39) |
H63L |
possibly damaging |
Het |
| Lamb3 |
T |
A |
1: 193,014,469 (GRCm39) |
C543S |
probably damaging |
Het |
| Lnpep |
T |
A |
17: 17,791,162 (GRCm39) |
I461F |
possibly damaging |
Het |
| Lum |
A |
G |
10: 97,404,609 (GRCm39) |
H168R |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,762,591 (GRCm39) |
E77G |
possibly damaging |
Het |
| Mrpl13 |
T |
C |
15: 55,421,135 (GRCm39) |
|
probably null |
Het |
| Mtpap |
T |
A |
18: 4,380,703 (GRCm39) |
L127* |
probably null |
Het |
| Myo15a |
T |
C |
11: 60,382,609 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,542,514 (GRCm39) |
S726G |
probably benign |
Het |
| Nlrp5 |
C |
A |
7: 23,118,006 (GRCm39) |
H577N |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,103,554 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,289 (GRCm39) |
M140V |
probably benign |
Het |
| Or2h15 |
C |
T |
17: 38,441,427 (GRCm39) |
G219S |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,364 (GRCm39) |
D382E |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,907,069 (GRCm39) |
L516* |
probably null |
Het |
| Prune1 |
A |
G |
3: 95,162,711 (GRCm39) |
S321P |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Thbs1 |
T |
G |
2: 117,945,273 (GRCm39) |
V282G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,235,332 (GRCm39) |
R880C |
probably damaging |
Het |
| Vmn2r77 |
T |
G |
7: 86,449,979 (GRCm39) |
I75S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,630,063 (GRCm39) |
I2690K |
probably damaging |
Het |
|
| Other mutations in Zfp286 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02745:Zfp286
|
APN |
11 |
62,671,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02826:Zfp286
|
APN |
11 |
62,678,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0233:Zfp286
|
UTSW |
11 |
62,671,219 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0233:Zfp286
|
UTSW |
11 |
62,671,219 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0318:Zfp286
|
UTSW |
11 |
62,675,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Zfp286
|
UTSW |
11 |
62,674,534 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1994:Zfp286
|
UTSW |
11 |
62,670,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2186:Zfp286
|
UTSW |
11 |
62,671,287 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4258:Zfp286
|
UTSW |
11 |
62,671,896 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4327:Zfp286
|
UTSW |
11 |
62,670,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4453:Zfp286
|
UTSW |
11 |
62,671,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4479:Zfp286
|
UTSW |
11 |
62,671,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Zfp286
|
UTSW |
11 |
62,674,559 (GRCm39) |
nonsense |
probably null |
|
|
R4667:Zfp286
|
UTSW |
11 |
62,671,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Zfp286
|
UTSW |
11 |
62,671,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4978:Zfp286
|
UTSW |
11 |
62,679,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5120:Zfp286
|
UTSW |
11 |
62,671,551 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5533:Zfp286
|
UTSW |
11 |
62,671,796 (GRCm39) |
intron |
probably benign |
|
|
R7236:Zfp286
|
UTSW |
11 |
62,674,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7464:Zfp286
|
UTSW |
11 |
62,671,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8065:Zfp286
|
UTSW |
11 |
62,644,345 (GRCm39) |
missense |
unknown |
|
|
R8067:Zfp286
|
UTSW |
11 |
62,644,345 (GRCm39) |
missense |
unknown |
|
|
R8716:Zfp286
|
UTSW |
11 |
62,671,817 (GRCm39) |
missense |
unknown |
|
|
R9351:Zfp286
|
UTSW |
11 |
62,670,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1186:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1190:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Zfp286
|
UTSW |
11 |
62,678,795 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Zfp286
|
UTSW |
11 |
62,675,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation