Incidental Mutation 'IGL00579:Zbtb26'
| ID |
7222 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb26
|
| Ensembl Gene |
ENSMUSG00000050714 |
| Gene Name |
zinc finger and BTB domain containing 26 |
| Synonyms |
A630026F21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
IGL00579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37322180-37333147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37326454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 194
(V194D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067043]
[ENSMUST00000102789]
[ENSMUST00000112932]
|
| AlphaFold |
Q8C8S0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067043
AA Change: V183D
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070071
Gene: ENSMUSG00000050714
AA Change: V183D
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
4.38e-12 |
SMART |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
273 |
295 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
354 |
377 |
2.09e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102789
AA Change: V194D
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099850
Gene: ENSMUSG00000050714
AA Change: V194D
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
44 |
138 |
4.38e-12 |
SMART |
|
low complexity region
|
180 |
190 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
284 |
306 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
365 |
388 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112932
|
| SMART Domains |
Protein: ENSMUSP00000108554
Gene: ENSMUSG00000066798
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
2.67e-16 |
SMART |
|
Blast:BTB
|
161 |
196 |
1e-5 |
BLAST |
|
ZnF_C2H2
|
300 |
322 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
381 |
404 |
8.81e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203522
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,773,794 (GRCm39) |
E365G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,152,100 (GRCm39) |
Y197H |
probably benign |
Het |
| Cept1 |
A |
T |
3: 106,413,119 (GRCm39) |
V202E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,611 (GRCm39) |
K263* |
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,412,691 (GRCm39) |
I451T |
possibly damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,035,728 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
A |
3: 129,491,447 (GRCm39) |
H850L |
probably benign |
Het |
| Gm11595 |
T |
C |
11: 99,662,868 (GRCm39) |
T271A |
unknown |
Het |
| Gorab |
T |
C |
1: 163,222,256 (GRCm39) |
E142G |
probably damaging |
Het |
| Gpat4 |
A |
G |
8: 23,672,791 (GRCm39) |
S20P |
probably damaging |
Het |
| Gpr83 |
T |
C |
9: 14,771,897 (GRCm39) |
V23A |
probably benign |
Het |
| Il13ra2 |
A |
G |
X: 146,177,386 (GRCm39) |
Y146H |
probably damaging |
Het |
| Kcnj16 |
C |
T |
11: 110,916,034 (GRCm39) |
T232M |
probably benign |
Het |
| Mdfic |
A |
T |
6: 15,741,073 (GRCm39) |
I61F |
possibly damaging |
Het |
| Mmp3 |
G |
T |
9: 7,445,894 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,470,486 (GRCm39) |
R227K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,556,666 (GRCm39) |
I257F |
possibly damaging |
Het |
| Oxsr1 |
T |
A |
9: 119,088,277 (GRCm39) |
R43S |
probably damaging |
Het |
| Pacc1 |
T |
C |
1: 191,060,405 (GRCm39) |
V21A |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,103 (GRCm39) |
D382G |
probably damaging |
Het |
| Slc35b2 |
G |
T |
17: 45,875,886 (GRCm39) |
V81L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,024,622 (GRCm39) |
R72H |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,534 (GRCm39) |
T117I |
probably damaging |
Het |
| Vps13a |
T |
A |
19: 16,684,726 (GRCm39) |
T953S |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,320 (GRCm39) |
C311W |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,830 (GRCm39) |
T247A |
possibly damaging |
Het |
| Zfp639 |
A |
T |
3: 32,574,626 (GRCm39) |
E417V |
probably damaging |
Het |
|
| Other mutations in Zbtb26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Zbtb26
|
APN |
2 |
37,326,270 (GRCm39) |
nonsense |
probably null |
|
|
IGL01598:Zbtb26
|
APN |
2 |
37,326,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01940:Zbtb26
|
APN |
2 |
37,325,987 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02152:Zbtb26
|
APN |
2 |
37,326,703 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02867:Zbtb26
|
APN |
2 |
37,326,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02889:Zbtb26
|
APN |
2 |
37,326,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03081:Zbtb26
|
APN |
2 |
37,326,612 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0138:Zbtb26
|
UTSW |
2 |
37,326,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0328:Zbtb26
|
UTSW |
2 |
37,326,807 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0927:Zbtb26
|
UTSW |
2 |
37,326,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1671:Zbtb26
|
UTSW |
2 |
37,326,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1813:Zbtb26
|
UTSW |
2 |
37,326,347 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1896:Zbtb26
|
UTSW |
2 |
37,326,347 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2128:Zbtb26
|
UTSW |
2 |
37,326,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2374:Zbtb26
|
UTSW |
2 |
37,326,497 (GRCm39) |
missense |
probably benign |
|
|
R4050:Zbtb26
|
UTSW |
2 |
37,327,000 (GRCm39) |
start codon destroyed |
probably null |
0.46 |
|
R4631:Zbtb26
|
UTSW |
2 |
37,326,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4940:Zbtb26
|
UTSW |
2 |
37,326,781 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5071:Zbtb26
|
UTSW |
2 |
37,325,941 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6348:Zbtb26
|
UTSW |
2 |
37,325,687 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6962:Zbtb26
|
UTSW |
2 |
37,326,106 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6990:Zbtb26
|
UTSW |
2 |
37,326,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7261:Zbtb26
|
UTSW |
2 |
37,326,667 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7981:Zbtb26
|
UTSW |
2 |
37,326,887 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8013:Zbtb26
|
UTSW |
2 |
37,327,013 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8014:Zbtb26
|
UTSW |
2 |
37,327,013 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8872:Zbtb26
|
UTSW |
2 |
37,326,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8876:Zbtb26
|
UTSW |
2 |
37,326,896 (GRCm39) |
missense |
probably benign |
|
|
R8905:Zbtb26
|
UTSW |
2 |
37,326,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation