Incidental Mutation 'R2374:Zbtb26'
| ID |
248218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb26
|
| Ensembl Gene |
ENSMUSG00000050714 |
| Gene Name |
zinc finger and BTB domain containing 26 |
| Synonyms |
A630026F21Rik |
| MMRRC Submission |
040353-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
R2374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37322180-37333147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37326497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 180
(S180P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067043]
[ENSMUST00000102789]
[ENSMUST00000112932]
|
| AlphaFold |
Q8C8S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067043
AA Change: S169P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070071
Gene: ENSMUSG00000050714
AA Change: S169P
| 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: S180P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099850
Gene: ENSMUSG00000050714
AA Change: S180P
| 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 |
0.0589 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.7%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
C |
T |
18: 80,174,202 (GRCm39) |
R69Q |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,939,545 (GRCm39) |
D133G |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Clec4b1 |
T |
G |
6: 123,027,597 (GRCm39) |
L18R |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,043,288 (GRCm39) |
V706I |
possibly damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,632 (GRCm39) |
L294P |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,662,494 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,074,711 (GRCm39) |
L504P |
probably damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,013 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,764 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,291,780 (GRCm39) |
N3424S |
probably damaging |
Het |
| Itgb2 |
G |
A |
10: 77,395,515 (GRCm39) |
V539I |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Ly6e |
A |
G |
15: 74,830,470 (GRCm39) |
S107G |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
| Myo15a |
T |
G |
11: 60,369,669 (GRCm39) |
S810A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,153,669 (GRCm39) |
W2419R |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,900 (GRCm39) |
T560S |
possibly damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,958 (GRCm39) |
M274T |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,795 (GRCm39) |
S41R |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,627,411 (GRCm39) |
L697P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,059,517 (GRCm39) |
Y2443H |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,725,845 (GRCm39) |
I393T |
probably damaging |
Het |
| Tbc1d12 |
T |
A |
19: 38,825,614 (GRCm39) |
L155Q |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,492,422 (GRCm39) |
M816K |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,475,050 (GRCm39) |
D398G |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,543 (GRCm39) |
S249T |
probably benign |
Het |
| Vmn2r17 |
C |
A |
5: 109,575,104 (GRCm39) |
P137Q |
probably benign |
Het |
| Zfy1 |
A |
T |
Y: 726,391 (GRCm39) |
L458Q |
probably damaging |
Het |
| Zfy1 |
G |
C |
Y: 726,392 (GRCm39) |
L458V |
possibly damaging |
Het |
| Zmpste24 |
T |
C |
4: 120,931,734 (GRCm39) |
E297G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGCCTGTGTAAGAGAGGGC -3'
(R):5'- AGCCACATTGTAGAACGGTGC -3'
Sequencing Primer
(F):5'- AGATGGCTCTGGTCTAGTTCATTAAC -3'
(R):5'- CACATTGTAGAACGGTGCACACAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation