Incidental Mutation 'R2971:Zfp282'
| ID |
265675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp282
|
| Ensembl Gene |
ENSMUSG00000025821 |
| Gene Name |
zinc finger protein 282 |
| Synonyms |
HUB1 |
| MMRRC Submission |
040525-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2971 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
47854138-47885419 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 47874866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061890]
|
| AlphaFold |
E9PVC2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061890
|
| SMART Domains |
Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
Pfam:DUF3669
|
98 |
168 |
1.8e-12 |
PFAM |
|
KRAB
|
198 |
260 |
1.04e-21 |
SMART |
|
internal_repeat_1
|
317 |
372 |
1.1e-13 |
PROSPERO |
|
low complexity region
|
387 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
499 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
514 |
536 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
570 |
592 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
598 |
620 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
626 |
648 |
1.06e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
| Aebp2 |
T |
C |
6: 140,579,624 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
| Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
| Ctnnbl1 |
C |
T |
2: 157,713,106 (GRCm39) |
H464Y |
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,646,148 (GRCm39) |
R99H |
probably damaging |
Het |
| Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
| Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
| Irgm1 |
A |
T |
11: 48,757,417 (GRCm39) |
Y131* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,065 (GRCm39) |
I50N |
probably damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
| Plscr2 |
G |
T |
9: 92,172,724 (GRCm39) |
E128* |
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,556,552 (GRCm39) |
T25A |
unknown |
Het |
| Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
| Skint1 |
C |
A |
4: 111,878,527 (GRCm39) |
P153H |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
| Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
probably damaging |
Het |
|
| Other mutations in Zfp282 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00732:Zfp282
|
APN |
6 |
47,857,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00755:Zfp282
|
APN |
6 |
47,857,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Zfp282
|
APN |
6 |
47,874,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01404:Zfp282
|
APN |
6 |
47,874,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01484:Zfp282
|
APN |
6 |
47,867,054 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01560:Zfp282
|
APN |
6 |
47,857,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02949:Zfp282
|
APN |
6 |
47,874,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Zfp282
|
UTSW |
6 |
47,881,731 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Zfp282
|
UTSW |
6 |
47,881,725 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp282
|
UTSW |
6 |
47,881,733 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp282
|
UTSW |
6 |
47,881,724 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Zfp282
|
UTSW |
6 |
47,881,724 (GRCm39) |
small insertion |
probably benign |
|
|
R0020:Zfp282
|
UTSW |
6 |
47,856,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Zfp282
|
UTSW |
6 |
47,856,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Zfp282
|
UTSW |
6 |
47,869,866 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0415:Zfp282
|
UTSW |
6 |
47,881,987 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0415:Zfp282
|
UTSW |
6 |
47,874,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0607:Zfp282
|
UTSW |
6 |
47,857,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0710:Zfp282
|
UTSW |
6 |
47,857,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0946:Zfp282
|
UTSW |
6 |
47,856,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Zfp282
|
UTSW |
6 |
47,881,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1401:Zfp282
|
UTSW |
6 |
47,867,108 (GRCm39) |
nonsense |
probably null |
|
|
R1572:Zfp282
|
UTSW |
6 |
47,869,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Zfp282
|
UTSW |
6 |
47,874,721 (GRCm39) |
splice site |
probably null |
|
|
R4064:Zfp282
|
UTSW |
6 |
47,857,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4478:Zfp282
|
UTSW |
6 |
47,867,630 (GRCm39) |
nonsense |
probably null |
|
|
R4530:Zfp282
|
UTSW |
6 |
47,867,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4532:Zfp282
|
UTSW |
6 |
47,867,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5068:Zfp282
|
UTSW |
6 |
47,854,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5261:Zfp282
|
UTSW |
6 |
47,874,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Zfp282
|
UTSW |
6 |
47,882,261 (GRCm39) |
missense |
probably benign |
|
|
R5551:Zfp282
|
UTSW |
6 |
47,867,579 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6046:Zfp282
|
UTSW |
6 |
47,857,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:Zfp282
|
UTSW |
6 |
47,857,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7535:Zfp282
|
UTSW |
6 |
47,881,878 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8098:Zfp282
|
UTSW |
6 |
47,867,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8158:Zfp282
|
UTSW |
6 |
47,867,626 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8304:Zfp282
|
UTSW |
6 |
47,881,722 (GRCm39) |
small deletion |
probably benign |
|
|
R8385:Zfp282
|
UTSW |
6 |
47,882,023 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8543:Zfp282
|
UTSW |
6 |
47,881,561 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8817:Zfp282
|
UTSW |
6 |
47,881,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
S24628:Zfp282
|
UTSW |
6 |
47,881,987 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
S24628:Zfp282
|
UTSW |
6 |
47,874,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Zfp282
|
UTSW |
6 |
47,867,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACACGGACTGGTGGGATTCC -3'
(R):5'- CTTGCTCTTTGACACACAAATACAC -3'
Sequencing Primer
(F):5'- GGTGGGATTCCTCCTTCTCTAACATG -3'
(R):5'- ATTCACTCTGAGGGACTGGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation