Incidental Mutation 'R0328:Zbtb26'
| ID |
25824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb26
|
| Ensembl Gene |
ENSMUSG00000050714 |
| Gene Name |
zinc finger and BTB domain containing 26 |
| Synonyms |
A630026F21Rik |
| MMRRC Submission |
038537-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
R0328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37322180-37333147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37326807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 76
(N76K)
|
| 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: N65K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070071
Gene: ENSMUSG00000050714
AA Change: N65K
| 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: N76K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099850
Gene: ENSMUSG00000050714
AA Change: N76K
| 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 |
0.0911 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.5%
- 20x: 90.8%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,574,624 (GRCm39) |
H618L |
possibly damaging |
Het |
| Aacs |
T |
C |
5: 125,593,323 (GRCm39) |
V642A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,587,796 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
A |
G |
15: 76,636,152 (GRCm39) |
|
probably benign |
Het |
| Bard1 |
C |
T |
1: 71,085,921 (GRCm39) |
V595I |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,937,953 (GRCm39) |
K2713E |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,129,742 (GRCm39) |
G260D |
possibly damaging |
Het |
| Ccdc154 |
A |
C |
17: 25,390,779 (GRCm39) |
K643T |
probably benign |
Het |
| Ccl4 |
T |
A |
11: 83,554,383 (GRCm39) |
S59T |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,174,259 (GRCm39) |
S73P |
probably benign |
Het |
| Colgalt2 |
A |
T |
1: 152,348,859 (GRCm39) |
D168V |
probably damaging |
Het |
| Fam117a |
T |
C |
11: 95,266,452 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,476,827 (GRCm39) |
T1935A |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,975,653 (GRCm39) |
I248F |
possibly damaging |
Het |
| Fhod3 |
A |
T |
18: 25,246,657 (GRCm39) |
M1288L |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,885 (GRCm39) |
K578T |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,727,496 (GRCm39) |
|
probably benign |
Het |
| Helz |
G |
T |
11: 107,495,174 (GRCm39) |
A383S |
probably benign |
Het |
| Ift172 |
C |
A |
5: 31,421,195 (GRCm39) |
E968* |
probably null |
Het |
| Itpripl1 |
T |
C |
2: 126,983,924 (GRCm39) |
N66S |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,423,265 (GRCm39) |
Y686H |
probably damaging |
Het |
| Ndrg1 |
C |
A |
15: 66,815,008 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,297,216 (GRCm39) |
V545A |
probably benign |
Het |
| Or10al5 |
A |
G |
17: 38,063,284 (GRCm39) |
I180V |
possibly damaging |
Het |
| P3h3 |
G |
A |
6: 124,831,269 (GRCm39) |
|
probably benign |
Het |
| Ppme1 |
A |
T |
7: 99,983,182 (GRCm39) |
|
probably null |
Het |
| Prkag1 |
T |
G |
15: 98,713,563 (GRCm39) |
D44A |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,090,145 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
C |
A |
11: 70,810,033 (GRCm39) |
R489S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,523,168 (GRCm39) |
V75A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,498,042 (GRCm39) |
L16P |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,997 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,063,595 (GRCm39) |
Y2277C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,298,945 (GRCm39) |
I1047T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 117,981,216 (GRCm39) |
Y369H |
probably benign |
Het |
| Tmem131l |
C |
T |
3: 83,829,238 (GRCm39) |
|
probably benign |
Het |
| Traf3ip2 |
A |
T |
10: 39,510,669 (GRCm39) |
D314V |
probably damaging |
Het |
| Ttc28 |
T |
G |
5: 111,431,933 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,872 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,602,969 (GRCm39) |
Y1884N |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,251 (GRCm39) |
I502K |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,791,744 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,699 (GRCm39) |
I852M |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,995,405 (GRCm39) |
E414D |
probably benign |
Het |
| Wnt4 |
A |
G |
4: 137,022,754 (GRCm39) |
T106A |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,309,445 (GRCm39) |
T885A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCGTTCTACAATGTGGCTCATC -3'
(R):5'- TCTACTCCTTGGGTACAGTTGACACC -3'
Sequencing Primer
(F):5'- GTGGCTCATCTGAAGAAAACTC -3'
(R):5'- GCAGCCATTGAAAGCTGTTATC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation