Incidental Mutation 'R7129:Zbtb21'
| ID |
552545 |
| 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 |
045214-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R7129 (G1)
|
| Quality Score |
116.467 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
97746993-97763850 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC to AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC
at 97752887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109363
(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 benign
Transcript: ENSMUST00000063605
|
| SMART Domains |
Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109363
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
|
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,199 (GRCm39) |
E443G |
probably damaging |
Het |
| 2700049A03Rik |
A |
G |
12: 71,263,004 (GRCm39) |
|
probably null |
Het |
| 3110082I17Rik |
A |
G |
5: 139,349,738 (GRCm39) |
Y104H |
probably damaging |
Het |
| Abcg4 |
T |
C |
9: 44,190,681 (GRCm39) |
K282E |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,770,758 (GRCm39) |
S956P |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,986,235 (GRCm39) |
V74A |
probably damaging |
Het |
| Akt1 |
A |
T |
12: 112,626,083 (GRCm39) |
M63K |
probably benign |
Het |
| Arfrp1 |
G |
A |
2: 181,001,344 (GRCm39) |
R177* |
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,346 (GRCm39) |
E52G |
possibly damaging |
Het |
| BC051019 |
T |
C |
7: 109,319,825 (GRCm39) |
S10G |
|
Het |
| Bfsp2 |
T |
A |
9: 103,357,118 (GRCm39) |
E103V |
probably damaging |
Het |
| Bms1 |
G |
T |
6: 118,380,122 (GRCm39) |
C728* |
probably null |
Het |
| Cachd1 |
T |
G |
4: 100,775,263 (GRCm39) |
N159K |
probably null |
Het |
| Cd38 |
A |
G |
5: 44,067,651 (GRCm39) |
N294S |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,852,433 (GRCm39) |
N891S |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,543,370 (GRCm39) |
H836L |
probably damaging |
Het |
| Cldn16 |
A |
T |
16: 26,301,388 (GRCm39) |
D232V |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,689 (GRCm39) |
I425N |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,878,878 (GRCm39) |
N1506D |
probably damaging |
Het |
| Dok7 |
T |
C |
5: 35,236,392 (GRCm39) |
S227P |
probably damaging |
Het |
| Elf2 |
T |
C |
3: 51,168,432 (GRCm39) |
R201G |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,787,944 (GRCm39) |
H329R |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,890,339 (GRCm39) |
R841G |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,948,934 (GRCm39) |
Y926H |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,143 (GRCm39) |
H3849R |
probably benign |
Het |
| Hapln3 |
C |
T |
7: 78,771,572 (GRCm39) |
G106R |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,452,961 (GRCm39) |
|
probably null |
Het |
| Ifitm7 |
A |
T |
16: 13,801,600 (GRCm39) |
I53N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,778,554 (GRCm39) |
N433D |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,329,191 (GRCm39) |
V1048I |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,765,588 (GRCm39) |
T862A |
probably benign |
Het |
| Mcrs1 |
G |
A |
15: 99,146,609 (GRCm39) |
L141F |
probably damaging |
Het |
| Nkx3-2 |
A |
G |
5: 41,919,017 (GRCm39) |
S324P |
probably damaging |
Het |
| Nmi |
A |
T |
2: 51,845,936 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,325 (GRCm39) |
K480E |
possibly damaging |
Het |
| Oit3 |
T |
A |
10: 59,264,166 (GRCm39) |
I323F |
probably damaging |
Het |
| Or2ag17 |
T |
C |
7: 106,389,690 (GRCm39) |
K173E |
probably benign |
Het |
| Or5b98 |
A |
T |
19: 12,931,478 (GRCm39) |
H175L |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,291 (GRCm39) |
E640G |
probably benign |
Het |
| Phip |
C |
T |
9: 82,759,353 (GRCm39) |
V1366I |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,174 (GRCm39) |
M162V |
probably null |
Het |
| Podxl2 |
A |
G |
6: 88,820,487 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rab4a |
A |
T |
8: 124,554,069 (GRCm39) |
D40V |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,530,537 (GRCm39) |
F603L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,976 (GRCm39) |
K701* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,582,446 (GRCm39) |
D223G |
|
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,350 (GRCm39) |
T163S |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,259,287 (GRCm39) |
D1532G |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,782,441 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,646,515 (GRCm39) |
G12844W |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,053,775 (GRCm39) |
I190V |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,219,412 (GRCm39) |
I536T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn1r9 |
A |
C |
6: 57,048,611 (GRCm39) |
T229P |
probably damaging |
Het |
| Zbtb8a |
G |
C |
4: 129,254,188 (GRCm39) |
A102G |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,681,971 (GRCm39) |
W57R |
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 |
|
R7123:Zbtb21
|
UTSW |
16 |
97,751,112 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- TTAAGTCAGAATCTGGGAAGTTGC -3'
(R):5'- TCAAGTGCTCCAGCCTCATC -3'
Sequencing Primer
(F):5'- AATCTGGGAAGTTGCTGTCAAG -3'
(R):5'- ATCGCCTCAGGTCCTTTAGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation