Incidental Mutation 'IGL00839:Zbtb11'
| ID |
13862 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb11
|
| Ensembl Gene |
ENSMUSG00000022601 |
| Gene Name |
zinc finger and BTB domain containing 11 |
| Synonyms |
9230110G02Rik, ZNF-U69274 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL00839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
55794246-55829276 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 55820965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 687
(Y687*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050248]
|
| AlphaFold |
G5E8B9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050248
AA Change: Y687*
|
| SMART Domains |
Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: Y687*
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,873 (GRCm39) |
S1031T |
probably benign |
Het |
| a |
T |
A |
2: 154,887,593 (GRCm39) |
F18I |
probably benign |
Het |
| Acsl4 |
A |
T |
X: 141,122,948 (GRCm39) |
N421K |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 103,007,010 (GRCm39) |
E745G |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,706,594 (GRCm39) |
N436D |
probably benign |
Het |
| Ap1s2 |
A |
G |
X: 162,709,951 (GRCm39) |
Y160C |
probably damaging |
Het |
| Bms1 |
C |
T |
6: 118,382,252 (GRCm39) |
V429M |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,607,089 (GRCm39) |
E158G |
probably damaging |
Het |
| Cldn34b4 |
T |
A |
X: 75,440,955 (GRCm39) |
C71S |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,531,095 (GRCm39) |
|
probably benign |
Het |
| Crisp3 |
T |
G |
17: 40,550,147 (GRCm39) |
|
probably null |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Defa24 |
T |
A |
8: 22,224,713 (GRCm39) |
L54H |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,706,994 (GRCm39) |
V504A |
probably benign |
Het |
| Eloa |
G |
A |
4: 135,738,670 (GRCm39) |
R97C |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,228,982 (GRCm39) |
|
probably benign |
Het |
| Fgb |
T |
A |
3: 82,950,598 (GRCm39) |
R385S |
possibly damaging |
Het |
| Glod4 |
T |
A |
11: 76,124,104 (GRCm39) |
H223L |
probably benign |
Het |
| Hrh1 |
C |
T |
6: 114,457,283 (GRCm39) |
T188I |
probably damaging |
Het |
| Hsph1 |
G |
T |
5: 149,541,919 (GRCm39) |
A769D |
possibly damaging |
Het |
| Jak2 |
C |
T |
19: 29,279,047 (GRCm39) |
P933S |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,900,017 (GRCm39) |
D107E |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,127,371 (GRCm39) |
S776R |
probably benign |
Het |
| Pcna |
C |
T |
2: 132,093,340 (GRCm39) |
V136I |
probably benign |
Het |
| Pde11a |
A |
G |
2: 76,045,729 (GRCm39) |
F365S |
probably damaging |
Het |
| Pi15 |
A |
G |
1: 17,691,747 (GRCm39) |
H183R |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,687,006 (GRCm39) |
Y638C |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,592,299 (GRCm39) |
D1196G |
probably benign |
Het |
| Pramel26 |
T |
C |
4: 143,539,293 (GRCm39) |
T67A |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,456,893 (GRCm39) |
I220V |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,328,274 (GRCm39) |
Y97N |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,909,174 (GRCm39) |
C690* |
probably null |
Het |
| Taf3 |
A |
T |
2: 9,957,728 (GRCm39) |
D146E |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,605,011 (GRCm39) |
T49A |
possibly damaging |
Het |
| Trdn |
T |
C |
10: 33,347,602 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
C |
T |
8: 79,060,385 (GRCm39) |
T435I |
probably benign |
Het |
| Vps37b |
T |
C |
5: 124,148,814 (GRCm39) |
T74A |
possibly damaging |
Het |
|
| Other mutations in Zbtb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation