Incidental Mutation 'IGL02826:Zfp286'
ID |
361220 |
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: 0.060)
|
Stock # |
IGL02826
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
62643403-62680288 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62678786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 47
(Q47R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054654]
[ENSMUST00000108705]
[ENSMUST00000207597]
|
AlphaFold |
Q8C0E6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054654
AA Change: Q47R
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000055517 Gene: ENSMUSG00000047342 AA Change: Q47R
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 |
possibly damaging
Transcript: ENSMUST00000108705
AA Change: Q47R
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104345 Gene: ENSMUSG00000047342 AA Change: Q47R
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 |
probably damaging
Transcript: ENSMUST00000207597
AA Change: Q47R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152602
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,655,302 (GRCm39) |
|
probably benign |
Het |
Alk |
C |
T |
17: 72,176,531 (GRCm39) |
G1591D |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,118,327 (GRCm39) |
S34P |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,627,354 (GRCm39) |
V137A |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,366,770 (GRCm39) |
M845V |
probably damaging |
Het |
Camk1d |
A |
G |
2: 5,570,571 (GRCm39) |
V30A |
possibly damaging |
Het |
Ceacam19 |
G |
A |
7: 19,616,535 (GRCm39) |
T193I |
probably benign |
Het |
Cfap298 |
A |
C |
16: 90,722,950 (GRCm39) |
D261E |
probably benign |
Het |
Chst15 |
T |
A |
7: 131,868,475 (GRCm39) |
D315V |
probably damaging |
Het |
Cux1 |
G |
T |
5: 136,336,857 (GRCm39) |
P885Q |
probably damaging |
Het |
Cyth1 |
C |
T |
11: 118,076,307 (GRCm39) |
E88K |
possibly damaging |
Het |
Dido1 |
A |
G |
2: 180,325,751 (GRCm39) |
V479A |
probably benign |
Het |
Dlc1 |
G |
T |
8: 37,037,429 (GRCm39) |
|
probably benign |
Het |
H2-Ab1 |
G |
A |
17: 34,483,885 (GRCm39) |
R82Q |
probably damaging |
Het |
Hps6 |
T |
A |
19: 45,994,480 (GRCm39) |
*806K |
probably null |
Het |
Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
Kdm1b |
C |
A |
13: 47,233,943 (GRCm39) |
T759K |
probably damaging |
Het |
Kirrel1 |
C |
A |
3: 86,995,792 (GRCm39) |
V381F |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,276,569 (GRCm39) |
V1701E |
probably damaging |
Het |
Lrmda |
T |
C |
14: 22,878,805 (GRCm39) |
Y100H |
probably damaging |
Het |
Mastl |
T |
C |
2: 23,035,421 (GRCm39) |
I169V |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,991,630 (GRCm39) |
E1576G |
probably damaging |
Het |
Nek3 |
A |
T |
8: 22,650,384 (GRCm39) |
|
probably null |
Het |
Nipal3 |
G |
T |
4: 135,195,861 (GRCm39) |
Y247* |
probably null |
Het |
Nt5e |
A |
C |
9: 88,237,758 (GRCm39) |
K229N |
probably damaging |
Het |
Opa1 |
A |
G |
16: 29,429,705 (GRCm39) |
M290V |
probably null |
Het |
Or2a14 |
A |
G |
6: 43,130,511 (GRCm39) |
I91V |
possibly damaging |
Het |
Or8d6 |
G |
T |
9: 39,854,254 (GRCm39) |
G233C |
probably damaging |
Het |
Parp2 |
T |
A |
14: 51,052,872 (GRCm39) |
I155K |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,674,403 (GRCm39) |
A171E |
probably damaging |
Het |
Prom2 |
C |
T |
2: 127,373,036 (GRCm39) |
E678K |
probably benign |
Het |
Rab12 |
A |
G |
17: 66,805,111 (GRCm39) |
|
probably benign |
Het |
Rgs8 |
A |
T |
1: 153,546,545 (GRCm39) |
T13S |
probably damaging |
Het |
Setd3 |
A |
G |
12: 108,078,383 (GRCm39) |
|
probably benign |
Het |
Shisal1 |
A |
G |
15: 84,304,330 (GRCm39) |
|
probably benign |
Het |
Slx4ip |
G |
A |
2: 136,846,893 (GRCm39) |
V53I |
probably damaging |
Het |
Stil |
A |
G |
4: 114,881,295 (GRCm39) |
D613G |
probably benign |
Het |
Tektip1 |
A |
G |
10: 81,200,570 (GRCm39) |
|
probably benign |
Het |
Tjp3 |
T |
A |
10: 81,109,523 (GRCm39) |
S858C |
probably damaging |
Het |
Tmem215 |
A |
G |
4: 40,474,632 (GRCm39) |
*236W |
probably null |
Het |
Ttbk1 |
A |
G |
17: 46,781,586 (GRCm39) |
V389A |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,693,707 (GRCm39) |
F2706S |
possibly damaging |
Het |
Xpo4 |
C |
A |
14: 57,866,877 (GRCm39) |
V222L |
possibly damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,236,809 (GRCm39) |
S428G |
probably benign |
Het |
Zfp318 |
A |
G |
17: 46,709,680 (GRCm39) |
K468E |
probably damaging |
Het |
|
Other mutations in Zfp286 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02659:Zfp286
|
APN |
11 |
62,674,563 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02745:Zfp286
|
APN |
11 |
62,671,700 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-12-18 |