Incidental Mutation 'IGL01510:Zbtb11'
| ID |
89176 |
| 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: 0.972)
|
| Stock # |
IGL01510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
55794246-55829276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 55810706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 288
(V288G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050248]
|
| AlphaFold |
G5E8B9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050248
AA Change: V288G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: V288G
| 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: ENSMUST00000183440
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,143,979 (GRCm39) |
Q6R |
probably damaging |
Het |
| Adam5 |
A |
T |
8: 25,294,481 (GRCm39) |
C373S |
probably damaging |
Het |
| Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,768,846 (GRCm39) |
M614K |
possibly damaging |
Het |
| Amigo2 |
T |
C |
15: 97,142,962 (GRCm39) |
T487A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,030,777 (GRCm39) |
D300G |
probably damaging |
Het |
| Atp4a |
C |
A |
7: 30,420,216 (GRCm39) |
L788M |
probably benign |
Het |
| Bcl3 |
T |
A |
7: 19,543,539 (GRCm39) |
H309L |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,519,200 (GRCm39) |
N376S |
probably benign |
Het |
| Cd200r2 |
A |
T |
16: 44,729,674 (GRCm39) |
I110L |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,893,767 (GRCm39) |
M426T |
probably benign |
Het |
| Cep295 |
G |
A |
9: 15,265,922 (GRCm39) |
R29* |
probably null |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Ctps1 |
G |
T |
4: 120,416,041 (GRCm39) |
T194K |
probably damaging |
Het |
| Cul3 |
A |
G |
1: 80,260,396 (GRCm39) |
S318P |
probably damaging |
Het |
| Fasl |
A |
T |
1: 161,609,522 (GRCm39) |
S155T |
possibly damaging |
Het |
| Gldc |
C |
T |
19: 30,091,121 (GRCm39) |
|
probably null |
Het |
| Gpr21 |
T |
A |
2: 37,408,433 (GRCm39) |
C326* |
probably null |
Het |
| Gtf2a1 |
A |
G |
12: 91,534,607 (GRCm39) |
S216P |
probably benign |
Het |
| Hoxb5 |
A |
T |
11: 96,194,818 (GRCm39) |
S127C |
possibly damaging |
Het |
| Htt |
A |
T |
5: 35,064,856 (GRCm39) |
Q3023L |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,055,700 (GRCm39) |
H855L |
possibly damaging |
Het |
| Lars1 |
T |
C |
18: 42,375,174 (GRCm39) |
I289V |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
| Mapk7 |
A |
T |
11: 61,381,986 (GRCm39) |
W309R |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,307 (GRCm39) |
T468A |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,798 (GRCm39) |
N1915Y |
unknown |
Het |
| Naprt |
A |
G |
15: 75,762,837 (GRCm39) |
|
probably benign |
Het |
| Nfatc1 |
T |
C |
18: 80,741,403 (GRCm39) |
Y199C |
probably damaging |
Het |
| Or7e166 |
A |
T |
9: 19,624,575 (GRCm39) |
I151F |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,609,201 (GRCm39) |
I158V |
probably benign |
Het |
| Phip |
T |
A |
9: 82,795,924 (GRCm39) |
I566F |
probably benign |
Het |
| Pnpla3 |
T |
A |
15: 84,055,273 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,710,166 (GRCm39) |
T1567I |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,360,343 (GRCm39) |
|
probably null |
Het |
| Ptprq |
G |
T |
10: 107,547,909 (GRCm39) |
T163K |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,955,794 (GRCm39) |
C415R |
probably damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,795,678 (GRCm39) |
S127P |
probably damaging |
Het |
| Tcerg1l |
A |
T |
7: 137,996,034 (GRCm39) |
|
probably benign |
Het |
| Thbd |
C |
T |
2: 148,248,894 (GRCm39) |
V325M |
probably damaging |
Het |
| Trim37 |
G |
A |
11: 87,068,686 (GRCm39) |
R344H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,703,109 (GRCm39) |
|
probably benign |
Het |
| Uvrag |
G |
A |
7: 98,653,796 (GRCm39) |
Q65* |
probably null |
Het |
| Wrap53 |
G |
A |
11: 69,453,566 (GRCm39) |
S342L |
possibly damaging |
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 |
|
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 |
2013-12-03 |
Incidental Mutation