Incidental Mutation 'R4170:Zbtb46'
| ID |
320730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb46
|
| Ensembl Gene |
ENSMUSG00000027583 |
| Gene Name |
zinc finger and BTB domain containing 46 |
| Synonyms |
Btbd4, 2610019F01Rik, 4933406L05Rik |
| MMRRC Submission |
040863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181029555-181101219 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 181066148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029106]
[ENSMUST00000087409]
[ENSMUST00000155535]
[ENSMUST00000180222]
|
| AlphaFold |
Q8BID6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029106
AA Change: M1V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
129 |
2.89e-21 |
SMART |
|
ZnF_C2H2
|
418 |
440 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
474 |
498 |
1.31e2 |
SMART |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
580 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087409
AA Change: M1V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084672
Gene: ENSMUSG00000027583
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
129 |
2.89e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146446
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155535
AA Change: M1V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158987
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180222
AA Change: M1V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
129 |
2.89e-21 |
SMART |
|
ZnF_C2H2
|
418 |
440 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
474 |
498 |
1.31e2 |
SMART |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
580 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit repressed altered myeloid potential in dendritic cells. Mice homozygous for a different knock-out allele exhibit partial activation of classical dendritic cells in the steady state. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700047A11Rik |
T |
A |
8: 26,585,815 (GRCm39) |
T63S |
probably benign |
Het |
| Acap3 |
T |
A |
4: 155,984,458 (GRCm39) |
S189T |
possibly damaging |
Het |
| Acsbg2 |
G |
A |
17: 57,160,846 (GRCm39) |
T266I |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,035,933 (GRCm39) |
D1144G |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,223,143 (GRCm39) |
D365G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,854,638 (GRCm39) |
D1542V |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,717,831 (GRCm39) |
V337D |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,288,754 (GRCm39) |
L867P |
probably damaging |
Het |
| Gdf6 |
A |
G |
4: 9,859,650 (GRCm39) |
D244G |
probably benign |
Het |
| Get1 |
G |
A |
16: 95,954,176 (GRCm39) |
A92T |
probably benign |
Het |
| Gzmn |
T |
C |
14: 56,404,261 (GRCm39) |
D192G |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,817,529 (GRCm39) |
Q169* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mmp23 |
C |
T |
4: 155,735,767 (GRCm39) |
R268Q |
probably damaging |
Het |
| Or1j17 |
C |
A |
2: 36,578,734 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,280 (GRCm39) |
I166L |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,524 (GRCm39) |
A378S |
probably benign |
Het |
| Ptf1a |
C |
T |
2: 19,451,819 (GRCm39) |
L273F |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,503,659 (GRCm39) |
Y1124N |
probably damaging |
Het |
| Rtkn |
T |
G |
6: 83,119,376 (GRCm39) |
M1R |
probably null |
Het |
| Rttn |
T |
A |
18: 88,993,847 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,886 (GRCm39) |
D468G |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Smarcd1 |
T |
C |
15: 99,605,812 (GRCm39) |
L320P |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,703 (GRCm39) |
M47L |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,920,037 (GRCm39) |
M2258T |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,800,988 (GRCm39) |
D1431E |
probably benign |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Tut4 |
A |
G |
4: 108,405,256 (GRCm39) |
Y1293C |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,775,818 (GRCm39) |
V620A |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,083,832 (GRCm39) |
F95I |
probably damaging |
Het |
|
| Other mutations in Zbtb46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01960:Zbtb46
|
APN |
2 |
181,065,928 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02401:Zbtb46
|
APN |
2 |
181,065,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0127:Zbtb46
|
UTSW |
2 |
181,053,608 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0279:Zbtb46
|
UTSW |
2 |
181,053,567 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1618:Zbtb46
|
UTSW |
2 |
181,066,042 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1711:Zbtb46
|
UTSW |
2 |
181,053,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Zbtb46
|
UTSW |
2 |
181,033,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Zbtb46
|
UTSW |
2 |
181,033,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Zbtb46
|
UTSW |
2 |
181,065,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Zbtb46
|
UTSW |
2 |
181,032,929 (GRCm39) |
missense |
probably benign |
|
|
R5656:Zbtb46
|
UTSW |
2 |
181,065,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5808:Zbtb46
|
UTSW |
2 |
181,065,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5932:Zbtb46
|
UTSW |
2 |
181,053,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6360:Zbtb46
|
UTSW |
2 |
181,033,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Zbtb46
|
UTSW |
2 |
181,033,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6672:Zbtb46
|
UTSW |
2 |
181,053,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6960:Zbtb46
|
UTSW |
2 |
181,065,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7485:Zbtb46
|
UTSW |
2 |
181,065,512 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7780:Zbtb46
|
UTSW |
2 |
181,033,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Zbtb46
|
UTSW |
2 |
181,065,935 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9091:Zbtb46
|
UTSW |
2 |
181,066,138 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9270:Zbtb46
|
UTSW |
2 |
181,066,138 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9450:Zbtb46
|
UTSW |
2 |
181,037,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Zbtb46
|
UTSW |
2 |
181,053,548 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Zbtb46
|
UTSW |
2 |
181,065,837 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGTACCTGGCAGTAGAG -3'
(R):5'- CCTGTGATGATGATGCCTGC -3'
Sequencing Primer
(F):5'- TACCTGGCAGTAGAGCGTCTTAAAG -3'
(R):5'- GATGATGATGCCTGCTGTTATC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation