Incidental Mutation 'R6348:Zbtb26'
ID |
514433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb26
|
Ensembl Gene |
ENSMUSG00000050714 |
Gene Name |
zinc finger and BTB domain containing 26 |
Synonyms |
A630026F21Rik |
MMRRC Submission |
044502-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.365)
|
Stock # |
R6348 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37322180-37333147 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37325687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 450
(V450M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099850
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053098]
[ENSMUST00000067043]
[ENSMUST00000102789]
[ENSMUST00000112932]
|
AlphaFold |
Q8C8S0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053098
|
SMART Domains |
Protein: ENSMUSP00000056100 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 |
probably benign
Transcript: ENSMUST00000067043
AA Change: V439M
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000070071 Gene: ENSMUSG00000050714 AA Change: V439M
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 |
probably benign
Transcript: ENSMUST00000102789
AA Change: V450M
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099850 Gene: ENSMUSG00000050714 AA Change: V450M
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
|
Meta Mutation Damage Score |
0.1399 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTACCTTCAGAATGTGCTTGG -3'
(R):5'- CACCTTAAACAGCTGCATGGC -3'
Sequencing Primer
(F):5'- GTGCCAGTCTAAGACATATATCAAC -3'
(R):5'- CTGCATGGCAAAAACAGCTTTG -3'
|
Posted On |
2018-04-27 |