Incidental Mutation 'R4327:Zfp286'
ID |
324427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp286
|
Ensembl Gene |
ENSMUSG00000047342 |
Gene Name |
zinc finger protein 286 |
Synonyms |
|
MMRRC Submission |
041097-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4327 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
62643403-62680288 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62670844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 410
(C410R)
|
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: C410R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055517 Gene: ENSMUSG00000047342 AA Change: C410R
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: ENSMUST00000149230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152602
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207597
|
Meta Mutation Damage Score |
0.9631 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (64/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
T |
C |
1: 53,221,664 (GRCm39) |
D55G |
possibly damaging |
Het |
Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
Arhgef12 |
C |
A |
9: 42,886,525 (GRCm39) |
E1152* |
probably null |
Het |
Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
Atp1a3 |
A |
G |
7: 24,687,056 (GRCm39) |
|
probably benign |
Het |
Bcl2l1 |
A |
G |
2: 152,624,099 (GRCm39) |
V223A |
probably benign |
Het |
C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
Cela3b |
G |
T |
4: 137,151,242 (GRCm39) |
A137E |
probably benign |
Het |
Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
Col16a1 |
T |
C |
4: 129,988,344 (GRCm39) |
|
probably null |
Het |
Ctcfl |
G |
A |
2: 172,955,299 (GRCm39) |
|
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,395,566 (GRCm39) |
T20S |
probably benign |
Het |
Fastkd2 |
A |
G |
1: 63,791,516 (GRCm39) |
K675E |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Hmgxb3 |
A |
T |
18: 61,300,611 (GRCm39) |
M155K |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kcnn1 |
A |
T |
8: 71,305,307 (GRCm39) |
V301E |
probably damaging |
Het |
Kcnq4 |
T |
C |
4: 120,568,561 (GRCm39) |
E385G |
probably benign |
Het |
Klhl28 |
G |
A |
12: 64,996,952 (GRCm39) |
A463V |
probably damaging |
Het |
Lhb |
A |
G |
7: 45,070,383 (GRCm39) |
R3G |
possibly damaging |
Het |
Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,276,005 (GRCm39) |
A4176T |
probably damaging |
Het |
Marchf6 |
C |
T |
15: 31,498,887 (GRCm39) |
E137K |
probably benign |
Het |
Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
Mpp3 |
T |
C |
11: 101,914,337 (GRCm39) |
|
probably benign |
Het |
Muc2 |
A |
C |
7: 141,281,577 (GRCm39) |
S479R |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,770,971 (GRCm39) |
I34N |
probably benign |
Het |
Or12e10 |
G |
T |
2: 87,640,496 (GRCm39) |
V111L |
probably benign |
Het |
Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
Or52n1 |
G |
A |
7: 104,382,833 (GRCm39) |
T246I |
probably damaging |
Het |
Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,204,792 (GRCm39) |
I551F |
possibly damaging |
Het |
Pex26 |
A |
T |
6: 121,164,373 (GRCm39) |
E172V |
probably damaging |
Het |
Pitrm1 |
A |
G |
13: 6,629,809 (GRCm39) |
|
probably benign |
Het |
Ptprs |
C |
A |
17: 56,754,468 (GRCm39) |
A191S |
possibly damaging |
Het |
Rdm1 |
T |
A |
11: 101,521,734 (GRCm39) |
V92E |
probably damaging |
Het |
Scn7a |
A |
G |
2: 66,567,815 (GRCm39) |
F260L |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,979,500 (GRCm39) |
M1L |
probably damaging |
Het |
Sh3d19 |
T |
C |
3: 86,031,020 (GRCm39) |
I728T |
probably benign |
Het |
Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
Slc13a1 |
A |
G |
6: 24,103,478 (GRCm39) |
V355A |
probably benign |
Het |
St7 |
G |
A |
6: 17,819,287 (GRCm39) |
V64M |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,127,882 (GRCm39) |
L622* |
probably null |
Het |
Tiam1 |
A |
G |
16: 89,652,779 (GRCm39) |
V781A |
possibly damaging |
Het |
Tigd2 |
C |
A |
6: 59,187,562 (GRCm39) |
T143K |
probably benign |
Het |
Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
Tmem161b |
G |
A |
13: 84,399,359 (GRCm39) |
G5D |
probably damaging |
Het |
Tonsl |
G |
A |
15: 76,523,916 (GRCm39) |
A28V |
probably benign |
Het |
Treml4 |
T |
C |
17: 48,581,417 (GRCm39) |
Y222H |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,087,131 (GRCm39) |
V175D |
probably damaging |
Het |
Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
Zfp934 |
T |
G |
13: 62,665,373 (GRCm39) |
N312H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGGGGCTGCTCTTGAA -3'
(R):5'- CGCTTGGGAAAAGACTGAAG -3'
Sequencing Primer
(F):5'- TCGGTACACCTGAAAGGCTTC -3'
(R):5'- GTTCATCCCTTGAGGTACATCAGAG -3'
|
Posted On |
2015-06-24 |