Incidental Mutation 'R6990:Zbtb26'
ID |
543181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb26
|
Ensembl Gene |
ENSMUSG00000050714 |
Gene Name |
zinc finger and BTB domain containing 26 |
Synonyms |
A630026F21Rik |
MMRRC Submission |
045096-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.365)
|
Stock # |
R6990 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
37322180-37333147 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37326557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 160
(K160E)
|
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: K149E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000070071 Gene: ENSMUSG00000050714 AA Change: K149E
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: K160E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000099850 Gene: ENSMUSG00000050714 AA Change: K160E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
G |
10: 78,902,925 (GRCm39) |
T464P |
probably damaging |
Het |
Abca16 |
A |
G |
7: 120,126,950 (GRCm39) |
I1214V |
probably benign |
Het |
Arap2 |
A |
G |
5: 62,833,860 (GRCm39) |
F869S |
probably damaging |
Het |
Astn2 |
G |
T |
4: 65,910,540 (GRCm39) |
H431N |
possibly damaging |
Het |
Bap1 |
A |
G |
14: 30,977,608 (GRCm39) |
T308A |
probably benign |
Het |
Bcr |
G |
A |
10: 74,966,868 (GRCm39) |
E492K |
possibly damaging |
Het |
Bltp3b |
A |
G |
10: 89,641,979 (GRCm39) |
D1050G |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,229,501 (GRCm39) |
F444L |
probably damaging |
Het |
Chd7 |
A |
T |
4: 8,844,525 (GRCm39) |
T1545S |
probably benign |
Het |
Dnmt1 |
A |
T |
9: 20,827,110 (GRCm39) |
Y877* |
probably null |
Het |
Fam13b |
A |
G |
18: 34,630,500 (GRCm39) |
V86A |
possibly damaging |
Het |
Gm11562 |
T |
A |
11: 99,510,817 (GRCm39) |
R128W |
unknown |
Het |
Krt86 |
A |
G |
15: 101,371,714 (GRCm39) |
I95V |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,942,284 (GRCm39) |
T349A |
possibly damaging |
Het |
Ms4a7 |
A |
T |
19: 11,310,605 (GRCm39) |
L38Q |
probably damaging |
Het |
Myo1h |
T |
C |
5: 114,468,221 (GRCm39) |
S339P |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,749,944 (GRCm39) |
I46V |
probably benign |
Het |
Nr1h4 |
T |
C |
10: 89,290,792 (GRCm39) |
D416G |
probably benign |
Het |
Oga |
G |
A |
19: 45,755,915 (GRCm39) |
A576V |
probably benign |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or4p18 |
A |
G |
2: 88,232,639 (GRCm39) |
M213T |
probably benign |
Het |
Pde1c |
C |
G |
6: 56,419,020 (GRCm39) |
E87Q |
possibly damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pga5 |
A |
T |
19: 10,646,779 (GRCm39) |
D317E |
probably benign |
Het |
Pira2 |
T |
A |
7: 3,844,067 (GRCm39) |
K568N |
probably damaging |
Het |
Ppp2cb |
A |
G |
8: 34,109,161 (GRCm39) |
D290G |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,596,990 (GRCm39) |
K617E |
probably damaging |
Het |
Slc7a14 |
G |
A |
3: 31,277,728 (GRCm39) |
P626S |
possibly damaging |
Het |
Speer4b |
A |
T |
5: 27,702,076 (GRCm39) |
L228* |
probably null |
Het |
Spns2 |
T |
C |
11: 72,380,447 (GRCm39) |
T59A |
probably benign |
Het |
Tbc1d5 |
A |
T |
17: 51,275,260 (GRCm39) |
N78K |
probably benign |
Het |
Tmem63a |
T |
C |
1: 180,788,686 (GRCm39) |
V341A |
probably benign |
Het |
Trpt1 |
A |
G |
19: 6,975,683 (GRCm39) |
T146A |
probably benign |
Het |
Tyrp1 |
T |
C |
4: 80,753,674 (GRCm39) |
C122R |
probably damaging |
Het |
Uchl1 |
A |
G |
5: 66,839,818 (GRCm39) |
E120G |
possibly damaging |
Het |
Ucn3 |
C |
T |
13: 3,991,295 (GRCm39) |
R119Q |
possibly damaging |
Het |
Vmn2r2 |
T |
G |
3: 64,024,608 (GRCm39) |
I658L |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,804,082 (GRCm39) |
V444E |
probably benign |
Het |
Wdr54 |
A |
C |
6: 83,132,629 (GRCm39) |
|
probably null |
Het |
Xcr1 |
A |
G |
9: 123,685,300 (GRCm39) |
L154P |
probably benign |
Het |
Zfp157 |
T |
G |
5: 138,454,772 (GRCm39) |
Y323* |
probably null |
Het |
Zfp850 |
A |
T |
7: 27,689,801 (GRCm39) |
F136I |
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 |
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 |
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'- GTGCAAAGCAGTGGGTTCAG -3'
(R):5'- AGTGGGGAGACAATTGCTC -3'
Sequencing Primer
(F):5'- GGTTCAGAAGAAATGTACTGGTTCTC -3'
(R):5'- GACAATTGCTCTTGTCCTGTTATAG -3'
|
Posted On |
2018-11-28 |