Incidental Mutation 'R8823:Zbtb21'
| ID |
673296 |
| 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 |
068656-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R8823 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
97746993-97763850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97752516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 589
(T589I)
|
| 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 benign
Transcript: ENSMUST00000052089
|
| SMART Domains |
Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
| 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: T589I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: T589I
| 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: T617I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: T617I
| 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 benign
Transcript: ENSMUST00000232187
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
T |
A |
8: 41,133,228 (GRCm39) |
I232K |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,460,191 (GRCm39) |
L506P |
probably benign |
Het |
| Atg5lrt |
A |
T |
10: 95,972,633 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ceacam20 |
A |
T |
7: 19,705,429 (GRCm39) |
Y140F |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,300,258 (GRCm39) |
R334H |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,447,880 (GRCm39) |
H78R |
probably damaging |
Het |
| Etnppl |
G |
A |
3: 130,420,195 (GRCm39) |
G204R |
probably damaging |
Het |
| Fah |
A |
G |
7: 84,254,925 (GRCm39) |
F3L |
possibly damaging |
Het |
| Galnt12 |
G |
T |
4: 47,091,928 (GRCm39) |
|
probably benign |
Het |
| Gbx1 |
A |
G |
5: 24,710,051 (GRCm39) |
S265P |
probably damaging |
Het |
| Gm17087 |
A |
G |
17: 8,785,233 (GRCm39) |
*157R |
probably null |
Het |
| Grin2a |
T |
A |
16: 9,487,758 (GRCm39) |
N380I |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,811,856 (GRCm39) |
T269I |
|
Het |
| Hace1 |
T |
C |
10: 45,524,956 (GRCm39) |
Y241H |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,722 (GRCm39) |
D291G |
possibly damaging |
Het |
| Ifi208 |
A |
G |
1: 173,511,102 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-5 |
A |
G |
12: 115,031,267 (GRCm39) |
S91P |
probably damaging |
Het |
| Igkv15-103 |
T |
C |
6: 68,414,855 (GRCm39) |
L98P |
probably damaging |
Het |
| Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
| Ipo9 |
A |
G |
1: 135,347,077 (GRCm39) |
W138R |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,668,240 (GRCm39) |
L69Q |
probably damaging |
Het |
| Kcnd3 |
T |
C |
3: 105,574,330 (GRCm39) |
I505T |
probably benign |
Het |
| Lrtm2 |
T |
A |
6: 119,294,193 (GRCm39) |
I313F |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,040,648 (GRCm39) |
I733F |
possibly damaging |
Het |
| Myh2 |
A |
T |
11: 67,076,300 (GRCm39) |
R800S |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,492,571 (GRCm39) |
I728N |
possibly damaging |
Het |
| Or10a3n |
A |
G |
7: 108,493,155 (GRCm39) |
I158T |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,969,220 (GRCm39) |
R33G |
probably benign |
Het |
| Polr1b |
T |
C |
2: 128,967,457 (GRCm39) |
F950S |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,384,282 (GRCm39) |
M697K |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,203,621 (GRCm39) |
Y386H |
probably damaging |
Het |
| Rilpl2 |
C |
T |
5: 124,606,716 (GRCm39) |
R166K |
possibly damaging |
Het |
| Rtn4 |
T |
A |
11: 29,656,609 (GRCm39) |
N254K |
probably benign |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sesn3 |
T |
A |
9: 14,221,536 (GRCm39) |
|
probably benign |
Het |
| Slc35b2 |
T |
A |
17: 45,877,894 (GRCm39) |
H291Q |
probably damaging |
Het |
| Slc38a3 |
A |
C |
9: 107,533,150 (GRCm39) |
Y308D |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,535 (GRCm39) |
V106A |
probably benign |
Het |
| Sybu |
C |
A |
15: 44,540,998 (GRCm39) |
A355S |
possibly damaging |
Het |
| Tes3-ps |
A |
T |
13: 49,647,692 (GRCm39) |
R189S |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,382,604 (GRCm39) |
D164G |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,823 (GRCm39) |
Q88R |
probably benign |
Het |
| Xkr9 |
T |
C |
1: 13,742,832 (GRCm39) |
V39A |
probably benign |
Het |
| Xpo1 |
A |
T |
11: 23,217,752 (GRCm39) |
M73L |
probably benign |
Het |
| Zbtb41 |
A |
G |
1: 139,350,892 (GRCm39) |
K2E |
probably damaging |
Het |
| Zfp105 |
A |
G |
9: 122,759,568 (GRCm39) |
K413R |
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 |
|
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 |
|
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'- TGCGCCTCAGCTTAATGATC -3'
(R):5'- CCCTTGAAGAAGGCAAAGGC -3'
Sequencing Primer
(F):5'- TCAGCTTAATGATCAGGGCC -3'
(R):5'- TGACAGCAACTTCCCAGATTCTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation