Incidental Mutation 'IGL01484:Zfp282'
ID |
88853 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp282
|
Ensembl Gene |
ENSMUSG00000025821 |
Gene Name |
zinc finger protein 282 |
Synonyms |
HUB1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL01484
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
47854138-47885419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47867054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 214
(N214D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061890]
|
AlphaFold |
E9PVC2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061890
AA Change: N214D
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000053643 Gene: ENSMUSG00000025821 AA Change: N214D
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125957
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
A |
G |
11: 5,579,006 (GRCm39) |
H90R |
possibly damaging |
Het |
Arsj |
A |
G |
3: 126,158,685 (GRCm39) |
D88G |
probably damaging |
Het |
Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
Dagla |
A |
C |
19: 10,225,884 (GRCm39) |
L760R |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,021,897 (GRCm39) |
E1202G |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,487,164 (GRCm39) |
H100R |
probably damaging |
Het |
Hhip |
T |
C |
8: 80,723,412 (GRCm39) |
H414R |
probably damaging |
Het |
Hk2 |
G |
A |
6: 82,713,711 (GRCm39) |
T457M |
probably damaging |
Het |
Iapp |
A |
G |
6: 142,249,165 (GRCm39) |
T73A |
possibly damaging |
Het |
Ifit1 |
A |
G |
19: 34,626,243 (GRCm39) |
N460D |
probably damaging |
Het |
Itpa |
T |
C |
2: 130,514,019 (GRCm39) |
F77L |
probably benign |
Het |
Knop1 |
T |
C |
7: 118,452,032 (GRCm39) |
D229G |
probably damaging |
Het |
Lrrc32 |
T |
C |
7: 98,143,442 (GRCm39) |
I5T |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,734,629 (GRCm39) |
V622M |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,571,400 (GRCm39) |
E866G |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,222 (GRCm39) |
W197R |
probably benign |
Het |
Palmd |
G |
A |
3: 116,746,794 (GRCm39) |
|
probably benign |
Het |
Pcbp4 |
A |
G |
9: 106,337,848 (GRCm39) |
|
probably null |
Het |
Pigf |
T |
C |
17: 87,316,308 (GRCm39) |
I157V |
probably benign |
Het |
Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
Prl7a2 |
T |
A |
13: 27,843,191 (GRCm39) |
D204V |
probably damaging |
Het |
Rfc3 |
A |
T |
5: 151,566,401 (GRCm39) |
D349E |
probably benign |
Het |
Sarm1 |
A |
T |
11: 78,381,839 (GRCm39) |
C215S |
probably damaging |
Het |
Serpine1 |
T |
C |
5: 137,092,326 (GRCm39) |
|
probably benign |
Het |
Strip1 |
A |
G |
3: 107,520,575 (GRCm39) |
V825A |
probably damaging |
Het |
Stx12 |
A |
G |
4: 132,611,673 (GRCm39) |
S2P |
probably damaging |
Het |
Sycp1 |
A |
C |
3: 102,823,183 (GRCm39) |
S311R |
probably benign |
Het |
Tfpi |
A |
T |
2: 84,275,169 (GRCm39) |
C139* |
probably null |
Het |
Tmc5 |
T |
A |
7: 118,256,010 (GRCm39) |
I695N |
probably damaging |
Het |
Tmem169 |
T |
C |
1: 72,340,263 (GRCm39) |
V231A |
probably damaging |
Het |
Ttbk2 |
T |
G |
2: 120,570,314 (GRCm39) |
S1211R |
possibly damaging |
Het |
Ubr3 |
C |
T |
2: 69,851,888 (GRCm39) |
R1855* |
probably null |
Het |
Urb1 |
A |
T |
16: 90,574,448 (GRCm39) |
S878T |
probably benign |
Het |
Vmn1r174 |
T |
A |
7: 23,453,749 (GRCm39) |
Y138* |
probably null |
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 |
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 |
|
R2971:Zfp282
|
UTSW |
6 |
47,874,866 (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 |
|
Posted On |
2013-11-18 |