Incidental Mutation 'IGL00921:Zbtb21'
ID |
29143 |
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 # |
IGL00921
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
97746993-97763850 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 97753222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 354
(S354A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068283
(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: S382A
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000052127 Gene: ENSMUSG00000046962 AA Change: S382A
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 damaging
Transcript: ENSMUST00000063605
AA Change: S354A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068283 Gene: ENSMUSG00000046962 AA Change: S354A
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 |
probably benign
Transcript: ENSMUST00000113734
AA Change: S382A
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000109363 Gene: ENSMUSG00000046962 AA Change: S382A
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 |
probably benign
Transcript: ENSMUST00000232165
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232010
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232187
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
D1Pas1 |
A |
G |
1: 186,700,983 (GRCm39) |
D304G |
probably benign |
Het |
Ddx49 |
G |
A |
8: 70,747,406 (GRCm39) |
Q345* |
probably null |
Het |
Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
Grhpr |
A |
G |
4: 44,988,991 (GRCm39) |
D216G |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
Hspbp1 |
A |
G |
7: 4,667,750 (GRCm39) |
S248P |
probably damaging |
Het |
Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
Klrg1 |
A |
T |
6: 122,259,711 (GRCm39) |
D20E |
probably benign |
Het |
Layn |
G |
A |
9: 50,968,708 (GRCm39) |
T345I |
probably damaging |
Het |
Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
Prim2 |
G |
T |
1: 33,551,241 (GRCm39) |
H292Q |
probably damaging |
Het |
Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
Trim80 |
A |
G |
11: 115,338,490 (GRCm39) |
N440S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
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 |
IGL01825:Zbtb21
|
APN |
16 |
97,753,889 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02310:Zbtb21
|
APN |
16 |
97,752,990 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
2013-04-17 |