Incidental Mutation 'IGL01913:Zbtb47'
| ID |
179869 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb47
|
| Ensembl Gene |
ENSMUSG00000013419 |
| Gene Name |
zinc finger and BTB domain containing 47 |
| Synonyms |
4732420M22Rik, Zfp651 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
IGL01913
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121588396-121600808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121593035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 452
(C452R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093772]
|
| AlphaFold |
E9PZ11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093772
AA Change: C452R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: C452R
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
45 |
141 |
3.69e-19 |
SMART |
|
low complexity region
|
159 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
372 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
447 |
470 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
474 |
494 |
8.4e1 |
SMART |
|
ZnF_C2H2
|
501 |
524 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
531 |
553 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
559 |
581 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
587 |
609 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
615 |
637 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
643 |
665 |
6.62e-6 |
SMART |
|
ZnF_C2H2
|
671 |
698 |
4.16e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213743
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214732
AA Change: C487R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216791
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,789,625 (GRCm39) |
E456G |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,983,428 (GRCm39) |
K1571* |
probably null |
Het |
| Arhgef2 |
G |
A |
3: 88,539,226 (GRCm39) |
V58M |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,309,652 (GRCm39) |
|
probably null |
Het |
| C3 |
T |
C |
17: 57,520,767 (GRCm39) |
N1163S |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,359,693 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,313,899 (GRCm39) |
V1905A |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,455,293 (GRCm39) |
R86C |
probably damaging |
Het |
| Fastkd1 |
A |
T |
2: 69,538,845 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,910,086 (GRCm39) |
D1972G |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,637 (GRCm39) |
T163A |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H6pd |
A |
T |
4: 150,078,920 (GRCm39) |
|
probably benign |
Het |
| Klhdc2 |
T |
G |
12: 69,349,132 (GRCm39) |
S90A |
probably benign |
Het |
| Lcn2 |
A |
G |
2: 32,277,157 (GRCm39) |
V139A |
possibly damaging |
Het |
| Nup205 |
A |
G |
6: 35,204,365 (GRCm39) |
E1417G |
probably benign |
Het |
| Or4a77 |
T |
G |
2: 89,487,684 (GRCm39) |
I34L |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,294 (GRCm39) |
C96S |
probably damaging |
Het |
| Or5t17 |
A |
T |
2: 86,833,164 (GRCm39) |
M284L |
possibly damaging |
Het |
| Pcdh18 |
C |
A |
3: 49,709,698 (GRCm39) |
S539I |
possibly damaging |
Het |
| Stat1 |
T |
C |
1: 52,165,716 (GRCm39) |
I104T |
probably benign |
Het |
| Tmem151a |
G |
A |
19: 5,131,920 (GRCm39) |
R429C |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
A |
G |
11: 21,698,931 (GRCm39) |
D570G |
probably damaging |
Het |
| Zfp429 |
T |
C |
13: 67,544,793 (GRCm39) |
Y27C |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,012,138 (GRCm39) |
V1368A |
probably benign |
Het |
|
| Other mutations in Zbtb47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0193:Zbtb47
|
UTSW |
9 |
121,596,732 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0270:Zbtb47
|
UTSW |
9 |
121,596,641 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0347:Zbtb47
|
UTSW |
9 |
121,592,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0654:Zbtb47
|
UTSW |
9 |
121,592,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2202:Zbtb47
|
UTSW |
9 |
121,591,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2203:Zbtb47
|
UTSW |
9 |
121,591,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2204:Zbtb47
|
UTSW |
9 |
121,591,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2205:Zbtb47
|
UTSW |
9 |
121,591,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2364:Zbtb47
|
UTSW |
9 |
121,596,660 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3843:Zbtb47
|
UTSW |
9 |
121,592,499 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4275:Zbtb47
|
UTSW |
9 |
121,595,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Zbtb47
|
UTSW |
9 |
121,593,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5358:Zbtb47
|
UTSW |
9 |
121,594,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5462:Zbtb47
|
UTSW |
9 |
121,596,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5613:Zbtb47
|
UTSW |
9 |
121,596,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Zbtb47
|
UTSW |
9 |
121,596,405 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5863:Zbtb47
|
UTSW |
9 |
121,596,596 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6009:Zbtb47
|
UTSW |
9 |
121,591,937 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6063:Zbtb47
|
UTSW |
9 |
121,592,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6114:Zbtb47
|
UTSW |
9 |
121,594,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:Zbtb47
|
UTSW |
9 |
121,592,853 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6414:Zbtb47
|
UTSW |
9 |
121,592,725 (GRCm39) |
missense |
probably benign |
|
|
R6811:Zbtb47
|
UTSW |
9 |
121,595,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Zbtb47
|
UTSW |
9 |
121,596,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7430:Zbtb47
|
UTSW |
9 |
121,592,732 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8215:Zbtb47
|
UTSW |
9 |
121,596,344 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8900:Zbtb47
|
UTSW |
9 |
121,596,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8982:Zbtb47
|
UTSW |
9 |
121,592,334 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9623:Zbtb47
|
UTSW |
9 |
121,591,990 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation