Incidental Mutation 'R6666:Zbtb11'
ID |
526996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb11
|
Ensembl Gene |
ENSMUSG00000022601 |
Gene Name |
zinc finger and BTB domain containing 11 |
Synonyms |
9230110G02Rik, ZNF-U69274 |
MMRRC Submission |
044786-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
R6666 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
55794246-55829276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55826615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 846
(K846I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050248]
[ENSMUST00000119981]
|
AlphaFold |
G5E8B9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050248
AA Change: K846I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056923 Gene: ENSMUSG00000022601 AA Change: K846I
Domain | Start | End | E-Value | Type |
low complexity region
|
136 |
158 |
N/A |
INTRINSIC |
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
BTB
|
214 |
312 |
4.77e-13 |
SMART |
low complexity region
|
371 |
399 |
N/A |
INTRINSIC |
ZnF_C2H2
|
566 |
588 |
1.1e-2 |
SMART |
ZnF_C2H2
|
594 |
616 |
2.09e-3 |
SMART |
low complexity region
|
623 |
640 |
N/A |
INTRINSIC |
ZnF_C2H2
|
648 |
670 |
4.47e-3 |
SMART |
ZnF_C2H2
|
676 |
698 |
8.22e-2 |
SMART |
ZnF_C2H2
|
704 |
726 |
2.27e-4 |
SMART |
ZnF_C2H2
|
732 |
754 |
1.28e-3 |
SMART |
ZnF_C2H2
|
763 |
785 |
2.95e-3 |
SMART |
ZnF_C2H2
|
791 |
813 |
7.67e-2 |
SMART |
ZnF_C2H2
|
819 |
843 |
2.95e-3 |
SMART |
ZnF_C2H2
|
855 |
877 |
1.67e-2 |
SMART |
ZnF_C2H2
|
883 |
905 |
3.02e0 |
SMART |
ZnF_C2H2
|
911 |
934 |
9.58e-3 |
SMART |
low complexity region
|
979 |
994 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119981
|
SMART Domains |
Protein: ENSMUSP00000112565 Gene: ENSMUSG00000071533
Domain | Start | End | E-Value | Type |
Pfam:PCNP
|
1 |
100 |
6.3e-59 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184618
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
C |
A |
10: 21,469,228 (GRCm39) |
|
probably null |
Het |
Arhgap24 |
A |
G |
5: 102,700,163 (GRCm39) |
|
probably null |
Het |
Atp12a |
G |
T |
14: 56,610,821 (GRCm39) |
V322L |
probably benign |
Het |
Capza1 |
A |
C |
3: 104,735,922 (GRCm39) |
|
probably null |
Het |
Cela3a |
A |
T |
4: 137,131,175 (GRCm39) |
S188T |
probably benign |
Het |
Cplx1 |
G |
T |
5: 108,668,031 (GRCm39) |
Y123* |
probably null |
Het |
Ddias |
A |
T |
7: 92,507,289 (GRCm39) |
D875E |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,670,172 (GRCm39) |
E715G |
probably benign |
Het |
Fam83e |
A |
G |
7: 45,376,426 (GRCm39) |
T380A |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,562,470 (GRCm39) |
V1270A |
probably damaging |
Het |
Foxh1 |
A |
G |
15: 76,552,613 (GRCm39) |
F367S |
probably damaging |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Gprc5a |
A |
G |
6: 135,056,473 (GRCm39) |
I307V |
probably benign |
Het |
Gtpbp3 |
A |
G |
8: 71,943,582 (GRCm39) |
D212G |
possibly damaging |
Het |
Helb |
A |
G |
10: 119,920,856 (GRCm39) |
V1029A |
probably damaging |
Het |
Il22ra1 |
A |
T |
4: 135,477,772 (GRCm39) |
H281L |
probably damaging |
Het |
Il2rb |
TAGTCA |
TAGTCAGTCA |
15: 78,366,034 (GRCm39) |
|
probably null |
Het |
Itga3 |
T |
C |
11: 94,956,652 (GRCm39) |
T170A |
probably benign |
Het |
Kdm3a |
T |
C |
6: 71,588,974 (GRCm39) |
E345G |
probably benign |
Het |
Kif11 |
T |
C |
19: 37,398,214 (GRCm39) |
I680T |
probably benign |
Het |
Klhl28 |
C |
T |
12: 64,990,301 (GRCm39) |
D547N |
probably benign |
Het |
Limk2 |
T |
A |
11: 3,310,493 (GRCm39) |
E49D |
probably damaging |
Het |
Lmbrd2 |
T |
A |
15: 9,151,656 (GRCm39) |
F120I |
probably benign |
Het |
Mefv |
T |
A |
16: 3,525,862 (GRCm39) |
N802Y |
possibly damaging |
Het |
Ms4a2 |
C |
T |
19: 11,595,787 (GRCm39) |
S168N |
probably benign |
Het |
Myct1 |
T |
C |
10: 5,554,333 (GRCm39) |
S67P |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,142,638 (GRCm39) |
E933G |
probably damaging |
Het |
Naif1 |
C |
A |
2: 32,344,863 (GRCm39) |
T189K |
probably damaging |
Het |
Nppb |
A |
G |
4: 148,070,463 (GRCm39) |
I11V |
probably benign |
Het |
Nr3c1 |
T |
C |
18: 39,620,200 (GRCm39) |
D29G |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,618,338 (GRCm39) |
Y782C |
probably damaging |
Het |
Or1af1 |
A |
T |
2: 37,110,331 (GRCm39) |
I277F |
probably damaging |
Het |
Or51e1 |
T |
C |
7: 102,359,135 (GRCm39) |
|
probably null |
Het |
Or9m1 |
T |
A |
2: 87,733,852 (GRCm39) |
H56L |
probably damaging |
Het |
Parp1 |
A |
G |
1: 180,413,516 (GRCm39) |
T375A |
probably benign |
Het |
Pcdhgb1 |
G |
T |
18: 37,814,546 (GRCm39) |
E346* |
probably null |
Het |
Pds5b |
G |
T |
5: 150,701,631 (GRCm39) |
S754I |
probably damaging |
Het |
Scnn1g |
G |
A |
7: 121,366,611 (GRCm39) |
D603N |
probably benign |
Het |
Slitrk5 |
A |
G |
14: 111,917,534 (GRCm39) |
D386G |
probably damaging |
Het |
Trmt1 |
T |
C |
8: 85,425,083 (GRCm39) |
L493P |
probably damaging |
Het |
Vrk1 |
A |
G |
12: 106,024,910 (GRCm39) |
E262G |
probably damaging |
Het |
Wfs1 |
T |
C |
5: 37,124,963 (GRCm39) |
T567A |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,720,140 (GRCm39) |
T1113A |
probably benign |
Het |
Zfp654 |
A |
T |
16: 64,606,596 (GRCm39) |
S535R |
probably benign |
Het |
|
Other mutations in Zbtb11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Zbtb11
|
APN |
16 |
55,820,965 (GRCm39) |
nonsense |
probably null |
|
IGL01107:Zbtb11
|
APN |
16 |
55,826,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01341:Zbtb11
|
APN |
16 |
55,811,294 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01510:Zbtb11
|
APN |
16 |
55,810,706 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01611:Zbtb11
|
APN |
16 |
55,800,973 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01736:Zbtb11
|
APN |
16 |
55,818,523 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01834:Zbtb11
|
APN |
16 |
55,811,371 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02427:Zbtb11
|
APN |
16 |
55,802,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02441:Zbtb11
|
APN |
16 |
55,794,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02455:Zbtb11
|
APN |
16 |
55,821,038 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4544001:Zbtb11
|
UTSW |
16 |
55,818,556 (GRCm39) |
nonsense |
probably null |
|
R0987:Zbtb11
|
UTSW |
16 |
55,811,071 (GRCm39) |
missense |
probably benign |
0.00 |
R1414:Zbtb11
|
UTSW |
16 |
55,810,923 (GRCm39) |
nonsense |
probably null |
|
R1437:Zbtb11
|
UTSW |
16 |
55,811,983 (GRCm39) |
critical splice donor site |
probably null |
|
R1570:Zbtb11
|
UTSW |
16 |
55,811,178 (GRCm39) |
missense |
probably benign |
|
R1658:Zbtb11
|
UTSW |
16 |
55,794,588 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1735:Zbtb11
|
UTSW |
16 |
55,811,045 (GRCm39) |
missense |
probably benign |
|
R2048:Zbtb11
|
UTSW |
16 |
55,818,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R2925:Zbtb11
|
UTSW |
16 |
55,794,447 (GRCm39) |
missense |
probably benign |
0.00 |
R4072:Zbtb11
|
UTSW |
16 |
55,818,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4075:Zbtb11
|
UTSW |
16 |
55,818,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4076:Zbtb11
|
UTSW |
16 |
55,818,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5023:Zbtb11
|
UTSW |
16 |
55,826,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R5755:Zbtb11
|
UTSW |
16 |
55,821,076 (GRCm39) |
missense |
probably benign |
0.02 |
R5757:Zbtb11
|
UTSW |
16 |
55,827,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Zbtb11
|
UTSW |
16 |
55,818,436 (GRCm39) |
missense |
probably benign |
0.00 |
R6313:Zbtb11
|
UTSW |
16 |
55,810,854 (GRCm39) |
missense |
probably benign |
0.03 |
R6461:Zbtb11
|
UTSW |
16 |
55,827,234 (GRCm39) |
missense |
probably damaging |
0.99 |
R6807:Zbtb11
|
UTSW |
16 |
55,810,865 (GRCm39) |
missense |
probably benign |
0.03 |
R7194:Zbtb11
|
UTSW |
16 |
55,827,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R7424:Zbtb11
|
UTSW |
16 |
55,810,850 (GRCm39) |
missense |
probably benign |
0.01 |
R8022:Zbtb11
|
UTSW |
16 |
55,826,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R8436:Zbtb11
|
UTSW |
16 |
55,821,022 (GRCm39) |
nonsense |
probably null |
|
R8532:Zbtb11
|
UTSW |
16 |
55,811,252 (GRCm39) |
missense |
probably benign |
0.03 |
R8806:Zbtb11
|
UTSW |
16 |
55,802,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Zbtb11
|
UTSW |
16 |
55,818,492 (GRCm39) |
missense |
probably benign |
|
R9673:Zbtb11
|
UTSW |
16 |
55,827,336 (GRCm39) |
missense |
probably damaging |
1.00 |
RF014:Zbtb11
|
UTSW |
16 |
55,800,960 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Zbtb11
|
UTSW |
16 |
55,811,865 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTATTCCCATGTGAAGTCCC -3'
(R):5'- ATATGCTAACAGGCTAAGGAGTTGAC -3'
Sequencing Primer
(F):5'- TCACTGAGCCTTACAGGTGAG -3'
(R):5'- GTTGACAAAGTAAGACTGTTCCCTG -3'
|
Posted On |
2018-07-23 |