Incidental Mutation 'R5989:Zbtb21'
ID |
481903 |
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 |
044169-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.649)
|
Stock # |
R5989 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
97746993-97763850 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97752699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 556
(P556L)
|
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: P556L
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000052127 Gene: ENSMUSG00000046962 AA Change: P556L
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: P528L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000068283 Gene: ENSMUSG00000046962 AA Change: P528L
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: P556L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000109363 Gene: ENSMUSG00000046962 AA Change: P556L
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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
Drgx |
A |
G |
14: 32,330,145 (GRCm39) |
N116S |
probably benign |
Het |
Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
Ggnbp1 |
A |
G |
17: 27,248,721 (GRCm39) |
R97G |
probably benign |
Het |
Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
Ipcef1 |
A |
T |
10: 6,929,532 (GRCm39) |
Y69* |
probably null |
Het |
Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
Nmral1 |
G |
A |
16: 4,536,902 (GRCm39) |
|
probably benign |
Het |
Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
Panx2 |
T |
C |
15: 88,944,455 (GRCm39) |
L60P |
probably damaging |
Het |
Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
Tmem200c |
G |
T |
17: 69,144,431 (GRCm39) |
|
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAAACCTCTTGTGACAGATG -3'
(R):5'- AGACATCATCCGGGTCACTG -3'
Sequencing Primer
(F):5'- CAGATGTCACAAGCGTAAGGC -3'
(R):5'- CAGCAGCTACGAGAGACCTG -3'
|
Posted On |
2017-06-26 |