Incidental Mutation 'R5755:Zbtb11'
| ID |
445012 |
| 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 |
043202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R5755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55794246-55829276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55821076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 724
(S724R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050248]
|
| AlphaFold |
G5E8B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050248
AA Change: S724R
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: S724R
| 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 |
noncoding transcript
Transcript: ENSMUST00000184618
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,350 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
| Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
| Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,071,842 (GRCm39) |
M501K |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
| Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
| Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,557 (GRCm39) |
N84I |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
| Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,492 (GRCm39) |
K233R |
possibly damaging |
Het |
| Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
| Slc7a10 |
A |
T |
7: 34,898,336 (GRCm39) |
I336F |
probably damaging |
Het |
| Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,725 (GRCm39) |
|
silent |
Het |
| Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
| Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
| Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,973,511 (GRCm39) |
S379P |
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 |
|
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 |
|
R6666:Zbtb11
|
UTSW |
16 |
55,826,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GATCCTTGGTATTTGTAGCTTCATC -3'
(R):5'- GAGCATATGACTTACTCCACTCTG -3'
Sequencing Primer
(F):5'- AATAGTTTGTTCACAGTCATCAGG -3'
(R):5'- GCTATGTAGACCAGACTTGCCTAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation