Incidental Mutation 'IGL03332:Zbtb8b'
| ID |
416900 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb8b
|
| Ensembl Gene |
ENSMUSG00000048485 |
| Gene Name |
zinc finger and BTB domain containing 8b |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
IGL03332
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
129319558-129334646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129322361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 367
(P367S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053042]
[ENSMUST00000106046]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053042
AA Change: P334S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058157
Gene: ENSMUSG00000048485
AA Change: P334S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
122 |
1.89e-25 |
SMART |
|
low complexity region
|
132 |
149 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
331 |
353 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
359 |
382 |
1.95e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106046
AA Change: P367S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101661
Gene: ENSMUSG00000048485
AA Change: P367S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
BTB
|
57 |
155 |
1.89e-25 |
SMART |
|
low complexity region
|
165 |
182 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
364 |
386 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
392 |
415 |
1.95e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132556
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
C |
A |
5: 103,988,971 (GRCm39) |
S846* |
probably null |
Het |
| Cnga2 |
A |
G |
X: 71,049,800 (GRCm39) |
Y155C |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,025,474 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,673,666 (GRCm39) |
Y405H |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,429,002 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,045,647 (GRCm39) |
E2573G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,419,277 (GRCm39) |
Y481* |
probably null |
Het |
| Mia2 |
T |
A |
12: 59,155,184 (GRCm39) |
I300N |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,801,418 (GRCm39) |
E1192G |
possibly damaging |
Het |
| Nol6 |
C |
A |
4: 41,120,735 (GRCm39) |
D405Y |
probably damaging |
Het |
| Rpl4 |
T |
C |
9: 64,083,370 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
G |
T |
13: 38,114,892 (GRCm39) |
E750D |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,578,879 (GRCm39) |
M265V |
possibly damaging |
Het |
| Tnik |
C |
T |
3: 28,720,304 (GRCm39) |
T1254I |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,542,790 (GRCm39) |
G348D |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,384,486 (GRCm39) |
T527A |
possibly damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,753,533 (GRCm39) |
E250G |
possibly damaging |
Het |
|
| Other mutations in Zbtb8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Zbtb8b
|
APN |
4 |
129,327,052 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01989:Zbtb8b
|
APN |
4 |
129,326,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
N/A:Zbtb8b
|
UTSW |
4 |
129,326,361 (GRCm39) |
missense |
probably benign |
|
|
PIT4131001:Zbtb8b
|
UTSW |
4 |
129,321,308 (GRCm39) |
makesense |
probably null |
|
|
R0391:Zbtb8b
|
UTSW |
4 |
129,326,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2389:Zbtb8b
|
UTSW |
4 |
129,327,066 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2392:Zbtb8b
|
UTSW |
4 |
129,326,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2760:Zbtb8b
|
UTSW |
4 |
129,326,293 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5028:Zbtb8b
|
UTSW |
4 |
129,326,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Zbtb8b
|
UTSW |
4 |
129,322,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Zbtb8b
|
UTSW |
4 |
129,322,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6671:Zbtb8b
|
UTSW |
4 |
129,321,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6714:Zbtb8b
|
UTSW |
4 |
129,326,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Zbtb8b
|
UTSW |
4 |
129,321,478 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7392:Zbtb8b
|
UTSW |
4 |
129,326,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7454:Zbtb8b
|
UTSW |
4 |
129,326,562 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7634:Zbtb8b
|
UTSW |
4 |
129,326,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Zbtb8b
|
UTSW |
4 |
129,322,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Zbtb8b
|
UTSW |
4 |
129,326,424 (GRCm39) |
missense |
probably benign |
|
|
R9366:Zbtb8b
|
UTSW |
4 |
129,326,151 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9417:Zbtb8b
|
UTSW |
4 |
129,326,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9467:Zbtb8b
|
UTSW |
4 |
129,326,319 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Posted On |
2016-08-02 |
Incidental Mutation