Incidental Mutation 'IGL02401:Zbtb46'
| ID |
291878 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb46
|
| Ensembl Gene |
ENSMUSG00000027583 |
| Gene Name |
zinc finger and BTB domain containing 46 |
| Synonyms |
Btbd4, 2610019F01Rik, 4933406L05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL02401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181029555-181101219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 181065245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 302
(T302S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029106]
[ENSMUST00000087409]
[ENSMUST00000155535]
[ENSMUST00000180222]
|
| AlphaFold |
Q8BID6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029106
AA Change: T302S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583
AA Change: T302S
| 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 benign
Transcript: ENSMUST00000087409
AA Change: T302S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000084672
Gene: ENSMUSG00000027583
AA Change: T302S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
129 |
2.89e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180222
AA Change: T302S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583
AA Change: T302S
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef18 |
C |
T |
8: 3,487,078 (GRCm39) |
R266C |
probably damaging |
Het |
| Asb11 |
A |
T |
X: 163,241,753 (GRCm39) |
|
probably benign |
Het |
| Cnot1 |
G |
A |
8: 96,482,761 (GRCm39) |
T764M |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,331,938 (GRCm39) |
M59T |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
C |
12: 24,302,106 (GRCm39) |
|
noncoding transcript |
Het |
| Lama3 |
T |
C |
18: 12,690,784 (GRCm39) |
F1268S |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,643,585 (GRCm39) |
C1347R |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,650 (GRCm39) |
S352P |
probably benign |
Het |
| Mcfd2 |
T |
C |
17: 87,564,592 (GRCm39) |
T97A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,929,983 (GRCm39) |
N23S |
possibly damaging |
Het |
| Nr1i3 |
A |
T |
1: 171,043,942 (GRCm39) |
|
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,797 (GRCm39) |
F209S |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,651 (GRCm39) |
P26L |
probably damaging |
Het |
| Orm2 |
A |
C |
4: 63,281,568 (GRCm39) |
I100L |
probably benign |
Het |
| Pbsn |
A |
G |
X: 76,886,129 (GRCm39) |
M126T |
probably benign |
Het |
| Rpgr |
G |
T |
X: 10,024,956 (GRCm39) |
T1026K |
possibly damaging |
Het |
| Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
| Shq1 |
T |
C |
6: 100,625,208 (GRCm39) |
Y217C |
probably damaging |
Het |
| Slc17a8 |
A |
T |
10: 89,412,522 (GRCm39) |
|
probably null |
Het |
| Slc6a19 |
A |
G |
13: 73,848,709 (GRCm39) |
I15T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,798,717 (GRCm39) |
V335E |
probably damaging |
Het |
| Sugp2 |
A |
G |
8: 70,695,821 (GRCm39) |
T265A |
possibly damaging |
Het |
| Tfrc |
T |
G |
16: 32,435,999 (GRCm39) |
S225R |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,113,468 (GRCm39) |
L140Q |
probably damaging |
Het |
| Znhit1 |
T |
C |
5: 137,011,513 (GRCm39) |
Y105C |
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 |
|
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 |
|
R4170:Zbtb46
|
UTSW |
2 |
181,066,148 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation