Incidental Mutation 'R0879:Zfp821'
| ID |
81927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp821
|
| Ensembl Gene |
ENSMUSG00000031728 |
| Gene Name |
zinc finger protein 821 |
| Synonyms |
4930566A11Rik |
| MMRRC Submission |
039046-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.528)
|
| Stock # |
R0879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110432178-110451564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110448474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 135
(I135T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034163]
[ENSMUST00000093162]
[ENSMUST00000212000]
[ENSMUST00000212192]
[ENSMUST00000212605]
[ENSMUST00000212964]
|
| AlphaFold |
Q6PD05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034163
AA Change: I135T
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034163
Gene: ENSMUSG00000031728
AA Change: I135T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
119 |
141 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
151 |
173 |
7.26e-3 |
SMART |
|
coiled coil region
|
260 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093162
|
| SMART Domains |
Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
197 |
N/A |
INTRINSIC |
|
Pfam:AXH
|
467 |
580 |
3.1e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211918
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212000
AA Change: I135T
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212192
AA Change: I135T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212964
|
| Meta Mutation Damage Score |
0.7030 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,524,892 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,559 (GRCm39) |
D25G |
possibly damaging |
Het |
| Adprs |
C |
T |
4: 126,210,410 (GRCm39) |
V357I |
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,927,582 (GRCm39) |
R164L |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,173 (GRCm39) |
N972S |
probably damaging |
Het |
| Brd2 |
A |
T |
17: 34,332,420 (GRCm39) |
V232D |
probably benign |
Het |
| C6 |
A |
G |
15: 4,792,818 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,627 (GRCm39) |
I666L |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,805,159 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,947,661 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,467,019 (GRCm39) |
V3615E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
C |
15: 54,741,326 (GRCm39) |
E324G |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,295,313 (GRCm39) |
V222A |
probably damaging |
Het |
| Gm4076 |
A |
G |
13: 85,275,326 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4775 |
T |
C |
14: 106,338,227 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9b |
T |
C |
9: 27,245,038 (GRCm39) |
S1002P |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,942,001 (GRCm39) |
S244P |
possibly damaging |
Het |
| Klhl41 |
A |
T |
2: 69,513,827 (GRCm39) |
|
probably benign |
Het |
| Ltbr |
A |
G |
6: 125,290,338 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,037,896 (GRCm39) |
E804G |
possibly damaging |
Het |
| Mybpc1 |
G |
A |
10: 88,407,378 (GRCm39) |
|
probably benign |
Het |
| Npas4 |
T |
C |
19: 5,036,944 (GRCm39) |
R407G |
probably benign |
Het |
| Oxnad1 |
T |
A |
14: 31,821,553 (GRCm39) |
Y213N |
probably damaging |
Het |
| Pde6d |
A |
G |
1: 86,473,523 (GRCm39) |
F91S |
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,286,123 (GRCm39) |
|
probably benign |
Het |
| Plscr2 |
T |
C |
9: 92,169,846 (GRCm39) |
Y99H |
probably damaging |
Het |
| Rft1 |
T |
C |
14: 30,404,705 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,860,588 (GRCm39) |
Y30C |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,863 (GRCm39) |
T108A |
possibly damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
T |
C |
9: 58,042,487 (GRCm39) |
|
probably null |
Het |
| Usp17le |
A |
T |
7: 104,418,854 (GRCm39) |
L96Q |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,418,855 (GRCm39) |
L96M |
possibly damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,662 (GRCm39) |
I184N |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,914,454 (GRCm39) |
V673A |
probably damaging |
Het |
| Wdr17 |
T |
G |
8: 55,114,516 (GRCm39) |
I667L |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,811,218 (GRCm39) |
T609A |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,034,342 (GRCm39) |
T776A |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,734,757 (GRCm39) |
P477Q |
probably damaging |
Het |
|
| Other mutations in Zfp821 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:Zfp821
|
APN |
8 |
110,436,110 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0299:Zfp821
|
UTSW |
8 |
110,450,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Zfp821
|
UTSW |
8 |
110,451,174 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1743:Zfp821
|
UTSW |
8 |
110,450,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Zfp821
|
UTSW |
8 |
110,447,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Zfp821
|
UTSW |
8 |
110,447,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Zfp821
|
UTSW |
8 |
110,450,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Zfp821
|
UTSW |
8 |
110,450,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Zfp821
|
UTSW |
8 |
110,447,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Zfp821
|
UTSW |
8 |
110,436,165 (GRCm39) |
splice site |
probably null |
|
|
R4906:Zfp821
|
UTSW |
8 |
110,450,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Zfp821
|
UTSW |
8 |
110,450,625 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5265:Zfp821
|
UTSW |
8 |
110,450,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Zfp821
|
UTSW |
8 |
110,447,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Zfp821
|
UTSW |
8 |
110,450,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9447:Zfp821
|
UTSW |
8 |
110,450,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9516:Zfp821
|
UTSW |
8 |
110,447,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTCAGGCTGTCTTGTGGAACC -3'
(R):5'- TTGGCCCTACCCCACTTTAAAAGC -3'
Sequencing Primer
(F):5'- GTATCCTAAGGATTCATGCCAGG -3'
(R):5'- AAAGCCGTCATTGTTAAGTCAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation