Incidental Mutation 'IGL02310:Zbtb21'
| ID |
287781 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb21
|
| Ensembl Gene |
ENSMUSG00000046962 |
| Gene Name |
zinc finger and BTB domain containing 21 |
| Synonyms |
Zfp295, Znf295, B430213I24Rik, 5430437K12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
IGL02310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
97746993-97763850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97752990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 459
(T459K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052089]
[ENSMUST00000063605]
[ENSMUST00000113734]
[ENSMUST00000231263]
[ENSMUST00000231560]
[ENSMUST00000232165]
[ENSMUST00000232187]
|
| AlphaFold |
E9Q444 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052089
AA Change: T459K
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: T459K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
58 |
154 |
5.14e-18 |
SMART |
|
low complexity region
|
461 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
493 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
578 |
598 |
2.14e2 |
SMART |
|
ZnF_C2H2
|
605 |
628 |
8.67e-1 |
SMART |
|
low complexity region
|
708 |
728 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
737 |
757 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
765 |
787 |
4.65e-1 |
SMART |
|
low complexity region
|
804 |
829 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
871 |
893 |
1.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063605
AA Change: T431K
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: T431K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
126 |
5.14e-18 |
SMART |
|
low complexity region
|
433 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
465 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
549 |
572 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
578 |
601 |
2.63e0 |
SMART |
|
ZnF_C2H2
|
673 |
695 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
750 |
770 |
2.14e2 |
SMART |
|
ZnF_C2H2
|
777 |
800 |
8.67e-1 |
SMART |
|
low complexity region
|
880 |
900 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
909 |
929 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
937 |
959 |
4.65e-1 |
SMART |
|
low complexity region
|
976 |
1001 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1043 |
1065 |
1.79e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113734
AA Change: T459K
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: T459K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
58 |
154 |
5.14e-18 |
SMART |
|
low complexity region
|
461 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
493 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
577 |
600 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
606 |
629 |
2.63e0 |
SMART |
|
ZnF_C2H2
|
701 |
723 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
778 |
798 |
2.14e2 |
SMART |
|
ZnF_C2H2
|
805 |
828 |
8.67e-1 |
SMART |
|
low complexity region
|
908 |
928 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
937 |
957 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
965 |
987 |
4.65e-1 |
SMART |
|
low complexity region
|
1004 |
1029 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1071 |
1093 |
1.79e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232165
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232187
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
A |
10: 88,859,740 (GRCm39) |
K382* |
probably null |
Het |
| Apoc2l |
A |
G |
7: 19,405,688 (GRCm39) |
*98Q |
probably null |
Het |
| Bcl9l |
A |
G |
9: 44,420,602 (GRCm39) |
Y1299C |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,966,516 (GRCm39) |
H357L |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,266 (GRCm39) |
|
probably benign |
Het |
| Esyt2 |
C |
T |
12: 116,329,541 (GRCm39) |
L700F |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,258,553 (GRCm39) |
Y138C |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,438,841 (GRCm39) |
N16D |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,963,075 (GRCm39) |
D812G |
probably null |
Het |
| Hic2 |
G |
A |
16: 17,075,621 (GRCm39) |
R150Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Klhl36 |
T |
A |
8: 120,596,356 (GRCm39) |
|
probably null |
Het |
| Matcap2 |
A |
G |
9: 22,335,724 (GRCm39) |
Y114C |
probably benign |
Het |
| Mug2 |
C |
T |
6: 122,036,082 (GRCm39) |
|
probably benign |
Het |
| Or9s14 |
T |
C |
1: 92,535,787 (GRCm39) |
V76A |
possibly damaging |
Het |
| Pdcl2 |
A |
T |
5: 76,465,728 (GRCm39) |
I116N |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,667 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pkn2 |
A |
G |
3: 142,517,341 (GRCm39) |
I482T |
probably damaging |
Het |
| Prss53 |
T |
G |
7: 127,485,786 (GRCm39) |
D518A |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,787,484 (GRCm39) |
D1093G |
probably benign |
Het |
| Tmcc2 |
A |
T |
1: 132,286,645 (GRCm39) |
I602N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,619,035 (GRCm39) |
V16115I |
possibly damaging |
Het |
|
| Other mutations in Zbtb21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Zbtb21
|
APN |
16 |
97,753,520 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00921:Zbtb21
|
APN |
16 |
97,753,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01825:Zbtb21
|
APN |
16 |
97,753,889 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03126:Zbtb21
|
APN |
16 |
97,752,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03332:Zbtb21
|
APN |
16 |
97,753,533 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0165:Zbtb21
|
UTSW |
16 |
97,752,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Zbtb21
|
UTSW |
16 |
97,751,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0267:Zbtb21
|
UTSW |
16 |
97,753,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Zbtb21
|
UTSW |
16 |
97,753,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Zbtb21
|
UTSW |
16 |
97,753,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1565:Zbtb21
|
UTSW |
16 |
97,753,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1778:Zbtb21
|
UTSW |
16 |
97,751,785 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2049:Zbtb21
|
UTSW |
16 |
97,751,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4086:Zbtb21
|
UTSW |
16 |
97,753,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Zbtb21
|
UTSW |
16 |
97,751,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4620:Zbtb21
|
UTSW |
16 |
97,751,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4754:Zbtb21
|
UTSW |
16 |
97,752,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Zbtb21
|
UTSW |
16 |
97,751,655 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5466:Zbtb21
|
UTSW |
16 |
97,751,698 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5989:Zbtb21
|
UTSW |
16 |
97,752,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Zbtb21
|
UTSW |
16 |
97,751,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6469:Zbtb21
|
UTSW |
16 |
97,757,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6732:Zbtb21
|
UTSW |
16 |
97,752,282 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6830:Zbtb21
|
UTSW |
16 |
97,753,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7123:Zbtb21
|
UTSW |
16 |
97,751,112 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7129:Zbtb21
|
UTSW |
16 |
97,752,887 (GRCm39) |
small deletion |
probably benign |
|
|
R7261:Zbtb21
|
UTSW |
16 |
97,754,179 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7305:Zbtb21
|
UTSW |
16 |
97,752,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7372:Zbtb21
|
UTSW |
16 |
97,751,569 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7564:Zbtb21
|
UTSW |
16 |
97,752,740 (GRCm39) |
nonsense |
probably null |
|
|
R7670:Zbtb21
|
UTSW |
16 |
97,753,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7788:Zbtb21
|
UTSW |
16 |
97,752,654 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8142:Zbtb21
|
UTSW |
16 |
97,752,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8547:Zbtb21
|
UTSW |
16 |
97,753,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8822:Zbtb21
|
UTSW |
16 |
97,752,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8823:Zbtb21
|
UTSW |
16 |
97,752,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9675:Zbtb21
|
UTSW |
16 |
97,752,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Zbtb21
|
UTSW |
16 |
97,753,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation