Incidental Mutation 'IGL03357:Zfp212'
| ID |
419989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp212
|
| Ensembl Gene |
ENSMUSG00000052763 |
| Gene Name |
Zinc finger protein 212 |
| Synonyms |
Znf212 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL03357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
47897502-47909573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47907771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 250
(N250I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009411]
|
| AlphaFold |
G3X8R7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009411
AA Change: N250I
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000009411
Gene: ENSMUSG00000052763
AA Change: N250I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
|
Pfam:DUF3669
|
41 |
111 |
8.1e-10 |
PFAM |
|
KRAB
|
141 |
202 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
366 |
388 |
6.57e-1 |
SMART |
|
ZnF_C2H2
|
424 |
446 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
452 |
474 |
4.54e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156500
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
T |
19: 8,986,689 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,799,233 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chd6 |
T |
C |
2: 160,859,936 (GRCm39) |
|
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,171,062 (GRCm39) |
R47Q |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,597,623 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,987,740 (GRCm39) |
G245R |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,798 (GRCm39) |
S395T |
probably benign |
Het |
| Dcc |
A |
T |
18: 71,460,625 (GRCm39) |
I1155K |
probably damaging |
Het |
| Dpy19l4 |
G |
A |
4: 11,267,615 (GRCm39) |
H442Y |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,687,612 (GRCm39) |
I395M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,050,736 (GRCm39) |
K374E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,211,402 (GRCm39) |
D660E |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,482,771 (GRCm39) |
F210L |
probably damaging |
Het |
| Gm4831 |
C |
T |
17: 37,422,879 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,243,632 (GRCm39) |
M234K |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,956,581 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,553 (GRCm39) |
S210T |
probably benign |
Het |
| Or4k42 |
C |
T |
2: 111,320,289 (GRCm39) |
M71I |
probably benign |
Het |
| Or4k52 |
G |
A |
2: 111,610,871 (GRCm39) |
V69I |
probably benign |
Het |
| Pde1c |
A |
G |
6: 56,157,078 (GRCm39) |
V106A |
probably damaging |
Het |
| Pitpnm3 |
G |
A |
11: 71,961,716 (GRCm39) |
Q284* |
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,548 (GRCm39) |
L2420P |
probably damaging |
Het |
| Prpf39 |
A |
G |
12: 65,108,211 (GRCm39) |
|
probably benign |
Het |
| Prss28 |
C |
T |
17: 25,528,669 (GRCm39) |
T37I |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,079,369 (GRCm39) |
S108T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,632,524 (GRCm39) |
H131R |
probably damaging |
Het |
| Tex101 |
A |
T |
7: 24,367,758 (GRCm39) |
I198K |
probably damaging |
Het |
| Thoc2l |
T |
G |
5: 104,668,334 (GRCm39) |
V952G |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,351,519 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,791,763 (GRCm39) |
I109S |
probably benign |
Het |
|
| Other mutations in Zfp212 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Zfp212
|
APN |
6 |
47,908,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0122:Zfp212
|
UTSW |
6 |
47,907,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0219:Zfp212
|
UTSW |
6 |
47,903,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Zfp212
|
UTSW |
6 |
47,903,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Zfp212
|
UTSW |
6 |
47,908,475 (GRCm39) |
missense |
probably benign |
|
|
R4910:Zfp212
|
UTSW |
6 |
47,908,433 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4991:Zfp212
|
UTSW |
6 |
47,903,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5297:Zfp212
|
UTSW |
6 |
47,906,011 (GRCm39) |
missense |
probably benign |
|
|
R6074:Zfp212
|
UTSW |
6 |
47,903,986 (GRCm39) |
nonsense |
probably null |
|
|
R6369:Zfp212
|
UTSW |
6 |
47,907,831 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7275:Zfp212
|
UTSW |
6 |
47,897,678 (GRCm39) |
missense |
probably benign |
|
|
R7873:Zfp212
|
UTSW |
6 |
47,907,860 (GRCm39) |
nonsense |
probably null |
|
|
R9240:Zfp212
|
UTSW |
6 |
47,906,032 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1176:Zfp212
|
UTSW |
6 |
47,903,702 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Zfp212
|
UTSW |
6 |
47,903,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation