Incidental Mutation 'R6672:Zbtb46'
| ID |
527160 |
| 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 |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181029555-181101219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181053629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 361
(L361P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029106]
[ENSMUST00000087409]
[ENSMUST00000180222]
|
| AlphaFold |
Q8BID6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029106
AA Change: L361P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583
AA Change: L361P
| 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: L361P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000084672
Gene: ENSMUSG00000027583
AA Change: L361P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
129 |
2.89e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180222
AA Change: L361P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583
AA Change: L361P
| 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 |
|
| Meta Mutation Damage Score |
0.3422 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
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 |
|
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 |
|
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'- TCATCCTCAGTGACTCCAGG -3'
(R):5'- ATGACCTGTGTGTACCTCCC -3'
Sequencing Primer
(F):5'- GCTGAACTGAGGTGCTTAAACC -3'
(R):5'- CTGTTCCTAGATGTAGACCTGACG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation