Incidental Mutation 'R7123:Zbtb21'
| ID |
552163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb21
|
| Ensembl Gene |
ENSMUSG00000046962 |
| Gene Name |
zinc finger and BTB domain containing 21 |
| Synonyms |
Zfp295, Znf295, B430213I24Rik, 5430437K12Rik |
| MMRRC Submission |
045211-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R7123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
97746993-97763850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97751112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 1057
(S1057N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052089]
[ENSMUST00000063605]
[ENSMUST00000113734]
[ENSMUST00000231263]
[ENSMUST00000231560]
[ENSMUST00000232165]
[ENSMUST00000232187]
|
| AlphaFold |
E9Q444 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052089
AA Change: S885N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: S885N
| 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: S1057N
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: S1057N
| 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 damaging
Transcript: ENSMUST00000113734
AA Change: S1085N
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: S1085N
| 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 |
probably benign
Transcript: ENSMUST00000231263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231560
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232165
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232187
AA Change: S371N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1574 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,484,949 (GRCm39) |
I1521T |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,740,693 (GRCm39) |
I145N |
probably damaging |
Het |
| Ago3 |
C |
A |
4: 126,248,798 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,257,297 (GRCm39) |
W1178R |
probably benign |
Het |
| Akap3 |
A |
T |
6: 126,843,267 (GRCm39) |
I629L |
probably benign |
Het |
| Aknad1 |
T |
G |
3: 108,682,560 (GRCm39) |
Y545* |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,454,930 (GRCm39) |
V1925F |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,799,943 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
T |
C |
2: 32,669,413 (GRCm39) |
E294G |
probably damaging |
Het |
| Cfd |
G |
A |
10: 79,728,331 (GRCm39) |
G231S |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,215,300 (GRCm39) |
V105A |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,922,591 (GRCm39) |
W523R |
probably damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnajc22 |
A |
C |
15: 98,999,085 (GRCm39) |
Y90S |
possibly damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,482,772 (GRCm39) |
K254E |
probably damaging |
Het |
| Gfpt1 |
A |
T |
6: 87,033,168 (GRCm39) |
D131V |
probably damaging |
Het |
| Gm5460 |
A |
G |
14: 33,763,982 (GRCm39) |
I21V |
unknown |
Het |
| H2-T9 |
A |
G |
17: 36,438,686 (GRCm39) |
I235T |
possibly damaging |
Het |
| Htr1d |
C |
T |
4: 136,169,664 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,516,749 (GRCm39) |
E1570K |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,919,789 (GRCm39) |
Y887H |
probably damaging |
Het |
| Kti12 |
T |
C |
4: 108,705,679 (GRCm39) |
S198P |
probably benign |
Het |
| Mcmdc2 |
A |
T |
1: 10,010,643 (GRCm39) |
I604F |
unknown |
Het |
| Mmp8 |
A |
T |
9: 7,563,196 (GRCm39) |
D253V |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,509 (GRCm39) |
S252P |
possibly damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,505 (GRCm39) |
K1317R |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,530,435 (GRCm39) |
I749V |
probably benign |
Het |
| Nfrkb |
A |
G |
9: 31,325,311 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,904,477 (GRCm39) |
T7166A |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,466,313 (GRCm39) |
S1472P |
probably damaging |
Het |
| Or14j7 |
T |
A |
17: 38,234,567 (GRCm39) |
L37M |
probably benign |
Het |
| Or1e20-ps1 |
T |
A |
11: 73,324,536 (GRCm39) |
D172V |
unknown |
Het |
| Orc1 |
A |
C |
4: 108,445,884 (GRCm39) |
M1L |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,813,742 (GRCm39) |
S4069T |
possibly damaging |
Het |
| Pus1 |
T |
C |
5: 110,921,798 (GRCm39) |
*442W |
probably null |
Het |
| Rgma |
A |
C |
7: 73,059,139 (GRCm39) |
D97A |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,746,279 (GRCm39) |
K3834E |
probably benign |
Het |
| Sars2 |
T |
C |
7: 28,452,866 (GRCm39) |
V475A |
probably benign |
Het |
| Scamp2 |
A |
T |
9: 57,494,385 (GRCm39) |
T253S |
probably benign |
Het |
| Skint9 |
C |
T |
4: 112,248,174 (GRCm39) |
W190* |
probably null |
Het |
| Spata31d1e |
G |
A |
13: 59,891,254 (GRCm39) |
Q189* |
probably null |
Het |
| Sv2b |
C |
T |
7: 74,767,450 (GRCm39) |
V649I |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
| Tiparp |
A |
T |
3: 65,460,948 (GRCm39) |
I646F |
probably damaging |
Het |
| Topaz1 |
G |
A |
9: 122,577,480 (GRCm39) |
G130D |
probably damaging |
Het |
| Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,619,051 (GRCm39) |
P319S |
possibly damaging |
Het |
| Umodl1 |
T |
A |
17: 31,201,318 (GRCm39) |
F416I |
possibly damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,261,088 (GRCm39) |
D445G |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,235,462 (GRCm39) |
V651A |
possibly damaging |
Het |
| Zfp451 |
A |
T |
1: 33,815,950 (GRCm39) |
C667S |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGGTCCAGAAAGCTGTG -3'
(R):5'- ACCCTTGCCCAAGATTCAG -3'
Sequencing Primer
(F):5'- CCAGAAAGCTGTGAGGTCATTTC -3'
(R):5'- AAGATTCAGCCCCTGGAGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation