Incidental Mutation 'R8142:Zbtb21'
| ID |
632609 |
| 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 |
067570-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R8142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
97746993-97763850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97752675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 536
(E536G)
|
| 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: E564G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: E564G
| 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: E536G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: E536G
| 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: E564G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: E564G
| 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: 99.7%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v1e2 |
A |
T |
17: 87,252,083 (GRCm39) |
I105N |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,909,465 (GRCm39) |
S980P |
probably damaging |
Het |
| Ccno |
T |
G |
13: 113,125,489 (GRCm39) |
L151R |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,734,791 (GRCm39) |
I801S |
probably benign |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dab1 |
T |
A |
4: 104,535,921 (GRCm39) |
V110D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,660,189 (GRCm39) |
T828A |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,384,519 (GRCm39) |
V3088L |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,593 (GRCm39) |
D82V |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,912 (GRCm39) |
F185L |
probably damaging |
Het |
| Epha10 |
A |
G |
4: 124,779,639 (GRCm39) |
T162A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,945,352 (GRCm39) |
D1415V |
probably damaging |
Het |
| Fitm1 |
T |
C |
14: 55,813,247 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,782 (GRCm39) |
E1651* |
probably null |
Het |
| Ifit3 |
G |
T |
19: 34,564,901 (GRCm39) |
C149F |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,616 (GRCm39) |
H465Q |
possibly damaging |
Het |
| Ltn1 |
A |
C |
16: 87,178,529 (GRCm39) |
S1567A |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,908,778 (GRCm39) |
V166A |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,737,448 (GRCm39) |
H424R |
possibly damaging |
Het |
| Mypop |
A |
G |
7: 18,735,051 (GRCm39) |
T383A |
unknown |
Het |
| Ngef |
G |
C |
1: 87,468,463 (GRCm39) |
R99G |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,162,078 (GRCm39) |
|
probably null |
Het |
| Npepps |
G |
T |
11: 97,109,398 (GRCm39) |
A726D |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,519 (GRCm39) |
D9V |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,854,166 (GRCm39) |
D187G |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,349,269 (GRCm39) |
E1034G |
possibly damaging |
Het |
| Pira1 |
A |
G |
7: 3,739,842 (GRCm39) |
S418P |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,327 (GRCm39) |
R1027H |
probably benign |
Het |
| Pon2 |
A |
T |
6: 5,266,239 (GRCm39) |
V260D |
probably benign |
Het |
| Rnase13 |
A |
G |
14: 52,159,893 (GRCm39) |
I82T |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,546,608 (GRCm39) |
S194P |
probably benign |
Het |
| Serpinb6c |
T |
A |
13: 34,064,096 (GRCm39) |
I320L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,885,205 (GRCm39) |
R363* |
probably null |
Het |
| Slc11a1 |
T |
C |
1: 74,424,418 (GRCm39) |
F500L |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,257,890 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,219,958 (GRCm39) |
N362S |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,530,575 (GRCm39) |
S115P |
unknown |
Het |
| Stk38l |
A |
G |
6: 146,660,070 (GRCm39) |
N34S |
probably benign |
Het |
| Tmem201 |
T |
C |
4: 149,803,114 (GRCm39) |
T585A |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,744,258 (GRCm39) |
I1297F |
possibly damaging |
Het |
| Uncx |
A |
G |
5: 139,532,655 (GRCm39) |
D240G |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,564 (GRCm39) |
I293V |
|
Het |
| Vps11 |
T |
C |
9: 44,265,852 (GRCm39) |
T476A |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,697,395 (GRCm39) |
L715P |
probably damaging |
Het |
| Wdr72 |
T |
G |
9: 74,046,949 (GRCm39) |
V65G |
probably damaging |
Het |
| Zbtb34 |
G |
T |
2: 33,302,493 (GRCm39) |
S16* |
probably null |
Het |
| Zfhx2 |
G |
A |
14: 55,310,895 (GRCm39) |
L600F |
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 |
|
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'- TGCATGGGAACTAGAGGCTG -3'
(R):5'- TGAGCAGACTCCCAGCAAAG -3'
Sequencing Primer
(F):5'- GGTCTGACAGTGTGTCCAC -3'
(R):5'- TCCCAGCAAAGAGAAGGTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation