Incidental Mutation 'R4453:Zfp286'
ID |
329056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp286
|
Ensembl Gene |
ENSMUSG00000047342 |
Gene Name |
zinc finger protein 286 |
Synonyms |
|
MMRRC Submission |
041152-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4453 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
62643403-62680288 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 62671030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 348
(G348R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054654]
[ENSMUST00000108705]
[ENSMUST00000207597]
|
AlphaFold |
Q8C0E6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054654
AA Change: G348R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055517 Gene: ENSMUSG00000047342 AA Change: G348R
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 |
noncoding transcript
Transcript: ENSMUST00000082758
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108705
|
SMART Domains |
Protein: ENSMUSP00000104345 Gene: ENSMUSG00000047342
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: ENSMUST00000152602
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207597
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149230
|
Meta Mutation Damage Score |
0.5875 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano7 |
A |
G |
1: 93,322,075 (GRCm39) |
D361G |
probably damaging |
Het |
Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
Ccdc86 |
G |
T |
19: 10,925,883 (GRCm39) |
P239T |
probably damaging |
Het |
Ces2h |
G |
A |
8: 105,741,288 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
A |
2: 91,379,190 (GRCm39) |
S43R |
probably damaging |
Het |
Cpne6 |
G |
A |
14: 55,750,054 (GRCm39) |
V62M |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,642,664 (GRCm39) |
C161R |
probably damaging |
Het |
Dnajc10 |
T |
C |
2: 80,176,967 (GRCm39) |
S641P |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Grm2 |
G |
A |
9: 106,531,078 (GRCm39) |
T137I |
probably damaging |
Het |
Gusb |
A |
G |
5: 130,027,324 (GRCm39) |
V327A |
possibly damaging |
Het |
Helz |
C |
T |
11: 107,563,455 (GRCm39) |
Q1631* |
probably null |
Het |
Hspa1a |
A |
G |
17: 35,189,269 (GRCm39) |
Y545H |
probably benign |
Het |
Hus1 |
A |
T |
11: 8,956,035 (GRCm39) |
M166K |
probably damaging |
Het |
Kcnh1 |
C |
A |
1: 192,187,825 (GRCm39) |
T762K |
probably damaging |
Het |
Limd1 |
C |
A |
9: 123,309,359 (GRCm39) |
Q353K |
possibly damaging |
Het |
Lipe |
T |
A |
7: 25,097,115 (GRCm39) |
K276I |
probably damaging |
Het |
Ntpcr |
G |
A |
8: 126,462,929 (GRCm39) |
V49I |
probably benign |
Het |
Or6c70 |
T |
C |
10: 129,710,530 (GRCm39) |
N32S |
probably null |
Het |
Ppp1r1c |
A |
G |
2: 79,538,575 (GRCm39) |
I20V |
possibly damaging |
Het |
Prdm13 |
G |
T |
4: 21,679,464 (GRCm39) |
A342E |
unknown |
Het |
Prkd3 |
C |
A |
17: 79,290,975 (GRCm39) |
R180L |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,099,274 (GRCm39) |
F1593L |
probably benign |
Het |
Rims2 |
T |
A |
15: 39,155,603 (GRCm39) |
C95S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,528,272 (GRCm39) |
M1510V |
probably benign |
Het |
Taf12 |
A |
G |
4: 132,010,306 (GRCm39) |
I92V |
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tssk5 |
G |
A |
15: 76,258,743 (GRCm39) |
R48C |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,482,680 (GRCm39) |
|
probably null |
Het |
Zfp473 |
T |
A |
7: 44,382,678 (GRCm39) |
T552S |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGGGCTGCTCTTGAAG -3'
(R):5'- CGCTTGGGAAAAGACTGAAG -3'
Sequencing Primer
(F):5'- TGCAAAATTTGAGCTCCGGC -3'
(R):5'- GTTCGGTACTTATCCGACACCAGAG -3'
|
Posted On |
2015-07-21 |