Incidental Mutation 'IGL01940:Zbtb26'
| ID |
180855 |
| 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: 0.301)
|
| Stock # |
IGL01940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37322180-37333147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37325987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 350
(C350S)
|
| 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: C339S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070071
Gene: ENSMUSG00000050714
AA Change: C339S
| 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: C350S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099850
Gene: ENSMUSG00000050714
AA Change: C350S
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,517,661 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,983,921 (GRCm39) |
D1735V |
probably benign |
Het |
| Alkbh3 |
G |
A |
2: 93,811,940 (GRCm39) |
T231I |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,885,431 (GRCm39) |
V344A |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,792 (GRCm39) |
D907V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,452,737 (GRCm39) |
M582K |
probably benign |
Het |
| Csf2 |
G |
T |
11: 54,140,351 (GRCm39) |
P29H |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,758 (GRCm39) |
R196H |
probably benign |
Het |
| Dagla |
A |
G |
19: 10,229,535 (GRCm39) |
V575A |
probably benign |
Het |
| Dimt1 |
T |
A |
13: 107,085,206 (GRCm39) |
|
probably benign |
Het |
| Ei24 |
A |
T |
9: 36,693,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Fam107a |
T |
C |
14: 8,298,766 (GRCm38) |
H120R |
probably benign |
Het |
| Fancl |
G |
T |
11: 26,409,752 (GRCm39) |
V203F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,925,512 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
A |
G |
12: 95,747,012 (GRCm39) |
Y450C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,864,332 (GRCm39) |
|
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,683 (GRCm39) |
S253G |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,453,805 (GRCm39) |
N469I |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,257 (GRCm39) |
Y294C |
probably damaging |
Het |
| Odam |
C |
A |
5: 88,035,192 (GRCm39) |
S52Y |
possibly damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,177 (GRCm39) |
T240I |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,154 (GRCm39) |
N200I |
probably damaging |
Het |
| Or51i2 |
A |
G |
7: 103,689,129 (GRCm39) |
N42S |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,720 (GRCm39) |
R2676L |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,529 (GRCm39) |
D1915G |
probably damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,519,764 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ptk2b |
A |
G |
14: 66,396,062 (GRCm39) |
I802T |
probably benign |
Het |
| Rabgap1 |
G |
T |
2: 37,377,079 (GRCm39) |
A304S |
probably damaging |
Het |
| Sema3f |
T |
C |
9: 107,560,896 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
A |
T |
1: 106,973,915 (GRCm39) |
V332E |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,165,793 (GRCm39) |
M370K |
probably benign |
Het |
| Slc25a1 |
T |
A |
16: 17,744,304 (GRCm39) |
Y209F |
probably benign |
Het |
| Smim15 |
A |
G |
13: 108,184,164 (GRCm39) |
K57E |
probably damaging |
Het |
| Taar3 |
T |
A |
10: 23,825,855 (GRCm39) |
C134S |
probably damaging |
Het |
| Tns4 |
C |
T |
11: 98,959,047 (GRCm39) |
S684N |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,487,071 (GRCm39) |
V608A |
probably benign |
Het |
|
| Other mutations in Zbtb26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Zbtb26
|
APN |
2 |
37,326,454 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL00899:Zbtb26
|
APN |
2 |
37,326,270 (GRCm39) |
nonsense |
probably null |
|
|
IGL01598:Zbtb26
|
APN |
2 |
37,326,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation