Incidental Mutation 'R6390:Zbtb6'
| ID |
515718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb6
|
| Ensembl Gene |
ENSMUSG00000066798 |
| Gene Name |
zinc finger and BTB domain containing 6 |
| Synonyms |
Zfp482, A830092L04Rik |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37315512-37320931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37318690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 413
(S413T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053098]
[ENSMUST00000067043]
[ENSMUST00000112932]
|
| AlphaFold |
Q8K088 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053098
AA Change: S413T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000056100
Gene: ENSMUSG00000066798
AA Change: S413T
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
2.67e-16 |
SMART |
|
Blast:BTB
|
161 |
196 |
1e-5 |
BLAST |
|
ZnF_C2H2
|
300 |
322 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
381 |
404 |
8.81e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067043
|
| SMART Domains |
Protein: ENSMUSP00000070071
Gene: ENSMUSG00000050714
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
4.38e-12 |
SMART |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
273 |
295 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
354 |
377 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112932
AA Change: S413T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108554
Gene: ENSMUSG00000066798
AA Change: S413T
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
2.67e-16 |
SMART |
|
Blast:BTB
|
161 |
196 |
1e-5 |
BLAST |
|
ZnF_C2H2
|
300 |
322 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
381 |
404 |
8.81e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0579 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,676,825 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,292,842 (GRCm39) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,295,255 (GRCm39) |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,533,474 (GRCm39) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,582,836 (GRCm39) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,459,367 (GRCm39) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 96,931,757 (GRCm39) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,936,426 (GRCm39) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
| Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
probably benign |
Het |
|
| Other mutations in Zbtb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01951:Zbtb6
|
APN |
2 |
37,319,343 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02981:Zbtb6
|
APN |
2 |
37,319,176 (GRCm39) |
nonsense |
probably null |
|
|
IGL03390:Zbtb6
|
APN |
2 |
37,319,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Zbtb6
|
UTSW |
2 |
37,319,600 (GRCm39) |
nonsense |
probably null |
|
|
R0164:Zbtb6
|
UTSW |
2 |
37,319,600 (GRCm39) |
nonsense |
probably null |
|
|
R0470:Zbtb6
|
UTSW |
2 |
37,319,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1472:Zbtb6
|
UTSW |
2 |
37,319,356 (GRCm39) |
missense |
probably benign |
|
|
R1606:Zbtb6
|
UTSW |
2 |
37,319,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1824:Zbtb6
|
UTSW |
2 |
37,319,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Zbtb6
|
UTSW |
2 |
37,319,054 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4838:Zbtb6
|
UTSW |
2 |
37,318,728 (GRCm39) |
nonsense |
probably null |
|
|
R5000:Zbtb6
|
UTSW |
2 |
37,319,251 (GRCm39) |
missense |
probably benign |
|
|
R5816:Zbtb6
|
UTSW |
2 |
37,319,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6005:Zbtb6
|
UTSW |
2 |
37,318,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Zbtb6
|
UTSW |
2 |
37,319,255 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7657:Zbtb6
|
UTSW |
2 |
37,319,087 (GRCm39) |
missense |
probably benign |
|
|
R7866:Zbtb6
|
UTSW |
2 |
37,319,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Zbtb6
|
UTSW |
2 |
37,319,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Zbtb6
|
UTSW |
2 |
37,318,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTCCTGAACAGAGGACTAATAC -3'
(R):5'- GGCCCTTTCAGTGTACTGTG -3'
Sequencing Primer
(F):5'- TAAACTTAATCACACCACCAACTTTG -3'
(R):5'- CAGTGTACTGTGTGTTTAAAGACC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation