Incidental Mutation 'R3967:Zfp536'
| ID |
475161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp536
|
| Ensembl Gene |
ENSMUSG00000043456 |
| Gene Name |
zinc finger protein 536 |
| Synonyms |
9630010P11Rik |
| MMRRC Submission |
040838-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
37017449-37473066 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 37173255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 282
(*282W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176129]
|
| AlphaFold |
Q8K083 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000176129
AA Change: *282W
|
| SMART Domains |
Protein: ENSMUSP00000135234
Gene: ENSMUSG00000043456
AA Change: *282W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
148 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
| Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
| Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm6871 |
A |
T |
7: 41,196,148 (GRCm39) |
H196Q |
probably damaging |
Het |
| Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
| Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Kbtbd12 |
A |
G |
6: 88,595,488 (GRCm39) |
V114A |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,515,438 (GRCm39) |
C658R |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
| Slc16a3 |
C |
T |
11: 120,846,251 (GRCm39) |
T60M |
possibly damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,032,431 (GRCm39) |
E184G |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,154 (GRCm39) |
N587K |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
|
| Other mutations in Zfp536 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01075:Zfp536
|
APN |
7 |
37,267,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02729:Zfp536
|
APN |
7 |
37,193,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Zfp536
|
UTSW |
7 |
37,179,182 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0211:Zfp536
|
UTSW |
7 |
37,267,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Zfp536
|
UTSW |
7 |
37,267,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Zfp536
|
UTSW |
7 |
37,268,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Zfp536
|
UTSW |
7 |
37,180,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Zfp536
|
UTSW |
7 |
37,269,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Zfp536
|
UTSW |
7 |
37,178,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Zfp536
|
UTSW |
7 |
37,178,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Zfp536
|
UTSW |
7 |
37,268,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Zfp536
|
UTSW |
7 |
37,268,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Zfp536
|
UTSW |
7 |
37,179,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Zfp536
|
UTSW |
7 |
37,178,814 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2288:Zfp536
|
UTSW |
7 |
37,179,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2509:Zfp536
|
UTSW |
7 |
37,267,403 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4039:Zfp536
|
UTSW |
7 |
37,268,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Zfp536
|
UTSW |
7 |
37,267,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Zfp536
|
UTSW |
7 |
37,268,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Zfp536
|
UTSW |
7 |
37,268,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Zfp536
|
UTSW |
7 |
37,178,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Zfp536
|
UTSW |
7 |
37,269,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Zfp536
|
UTSW |
7 |
37,180,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Zfp536
|
UTSW |
7 |
37,268,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Zfp536
|
UTSW |
7 |
37,180,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Zfp536
|
UTSW |
7 |
37,179,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6131:Zfp536
|
UTSW |
7 |
37,269,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Zfp536
|
UTSW |
7 |
37,173,281 (GRCm39) |
missense |
unknown |
|
|
R6257:Zfp536
|
UTSW |
7 |
37,179,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Zfp536
|
UTSW |
7 |
37,267,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6975:Zfp536
|
UTSW |
7 |
37,267,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Zfp536
|
UTSW |
7 |
37,179,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Zfp536
|
UTSW |
7 |
37,180,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7247:Zfp536
|
UTSW |
7 |
37,268,631 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7325:Zfp536
|
UTSW |
7 |
37,179,285 (GRCm39) |
missense |
probably benign |
|
|
R7650:Zfp536
|
UTSW |
7 |
37,269,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Zfp536
|
UTSW |
7 |
37,268,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Zfp536
|
UTSW |
7 |
37,269,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Zfp536
|
UTSW |
7 |
37,269,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Zfp536
|
UTSW |
7 |
37,268,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8504:Zfp536
|
UTSW |
7 |
37,179,492 (GRCm39) |
missense |
probably benign |
|
|
R8779:Zfp536
|
UTSW |
7 |
37,267,692 (GRCm39) |
nonsense |
probably null |
|
|
R8931:Zfp536
|
UTSW |
7 |
37,268,721 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8985:Zfp536
|
UTSW |
7 |
37,268,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Zfp536
|
UTSW |
7 |
37,269,206 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Zfp536
|
UTSW |
7 |
37,193,237 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1186:Zfp536
|
UTSW |
7 |
37,179,908 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp536
|
UTSW |
7 |
37,179,498 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp536
|
UTSW |
7 |
37,178,985 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1191:Zfp536
|
UTSW |
7 |
37,179,908 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp536
|
UTSW |
7 |
37,179,498 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp536
|
UTSW |
7 |
37,178,985 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation