Incidental Mutation 'IGL01758:Zbtb8a'
ID |
153482 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb8a
|
Ensembl Gene |
ENSMUSG00000028807 |
Gene Name |
zinc finger and BTB domain containing 8a |
Synonyms |
2410081M15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
IGL01758
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
129247425-129271821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 129251640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 277
(C277Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030610]
[ENSMUST00000146767]
|
AlphaFold |
Q9CWH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030610
AA Change: C277Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030610 Gene: ENSMUSG00000028807 AA Change: C277Y
Domain | Start | End | E-Value | Type |
BTB
|
24 |
122 |
2.49e-25 |
SMART |
ZnF_C2H2
|
275 |
297 |
2.2e-2 |
SMART |
ZnF_C2H2
|
303 |
326 |
4.17e-3 |
SMART |
low complexity region
|
422 |
428 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146767
|
SMART Domains |
Protein: ENSMUSP00000114628 Gene: ENSMUSG00000057572
Domain | Start | End | E-Value | Type |
Pfam:Archease
|
31 |
145 |
3.5e-40 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,901,645 (GRCm39) |
D860G |
possibly damaging |
Het |
Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
Adam19 |
A |
T |
11: 46,003,751 (GRCm39) |
H193L |
probably benign |
Het |
AI661453 |
T |
A |
17: 47,777,548 (GRCm39) |
|
probably benign |
Het |
Bod1l |
T |
C |
5: 41,983,953 (GRCm39) |
|
probably benign |
Het |
Brd4 |
T |
C |
17: 32,431,803 (GRCm39) |
|
probably benign |
Het |
Capn12 |
G |
A |
7: 28,586,048 (GRCm39) |
|
probably null |
Het |
Cdh18 |
A |
G |
15: 23,474,269 (GRCm39) |
Q713R |
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,844,406 (GRCm39) |
L103Q |
possibly damaging |
Het |
Dpy19l4 |
T |
A |
4: 11,265,846 (GRCm39) |
T475S |
probably damaging |
Het |
Dync2i1 |
G |
A |
12: 116,182,418 (GRCm39) |
P728L |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,187,035 (GRCm39) |
D1270E |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,052,659 (GRCm39) |
K275E |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,438,058 (GRCm39) |
D426G |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
Or13f5 |
G |
T |
4: 52,825,468 (GRCm39) |
E24* |
probably null |
Het |
Or8b50 |
T |
A |
9: 38,518,589 (GRCm39) |
I276K |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,977,740 (GRCm39) |
|
probably null |
Het |
Rxfp1 |
T |
A |
3: 79,559,523 (GRCm39) |
I433F |
possibly damaging |
Het |
Sbf1 |
C |
T |
15: 89,187,418 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
T |
G |
1: 106,928,484 (GRCm39) |
F368C |
probably damaging |
Het |
Slc9c1 |
T |
A |
16: 45,361,824 (GRCm39) |
S80R |
probably damaging |
Het |
Spats2l |
G |
T |
1: 57,918,715 (GRCm39) |
V30L |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,176,080 (GRCm39) |
E195G |
probably damaging |
Het |
Tbx5 |
T |
A |
5: 119,983,023 (GRCm39) |
|
probably benign |
Het |
Tmem165 |
A |
G |
5: 76,352,010 (GRCm39) |
T164A |
probably damaging |
Het |
Trim66 |
A |
T |
7: 109,085,252 (GRCm39) |
|
probably null |
Het |
Trip10 |
T |
A |
17: 57,568,409 (GRCm39) |
V405E |
possibly damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,372,275 (GRCm39) |
C28* |
probably null |
Het |
Zfp638 |
T |
C |
6: 83,956,508 (GRCm39) |
F1705S |
probably damaging |
Het |
|
Other mutations in Zbtb8a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4514001:Zbtb8a
|
UTSW |
4 |
129,251,523 (GRCm39) |
missense |
probably benign |
0.01 |
R1033:Zbtb8a
|
UTSW |
4 |
129,248,014 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1183:Zbtb8a
|
UTSW |
4 |
129,251,520 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1755:Zbtb8a
|
UTSW |
4 |
129,248,110 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2426:Zbtb8a
|
UTSW |
4 |
129,254,012 (GRCm39) |
missense |
probably benign |
0.00 |
R2520:Zbtb8a
|
UTSW |
4 |
129,253,689 (GRCm39) |
critical splice donor site |
probably null |
|
R5044:Zbtb8a
|
UTSW |
4 |
129,254,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R6357:Zbtb8a
|
UTSW |
4 |
129,248,092 (GRCm39) |
missense |
probably benign |
|
R7129:Zbtb8a
|
UTSW |
4 |
129,254,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:Zbtb8a
|
UTSW |
4 |
129,253,874 (GRCm39) |
missense |
probably benign |
0.00 |
R7754:Zbtb8a
|
UTSW |
4 |
129,251,496 (GRCm39) |
critical splice donor site |
probably null |
|
R9036:Zbtb8a
|
UTSW |
4 |
129,248,059 (GRCm39) |
missense |
probably benign |
0.13 |
R9174:Zbtb8a
|
UTSW |
4 |
129,254,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R9176:Zbtb8a
|
UTSW |
4 |
129,254,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R9267:Zbtb8a
|
UTSW |
4 |
129,248,267 (GRCm39) |
nonsense |
probably null |
|
R9480:Zbtb8a
|
UTSW |
4 |
129,253,875 (GRCm39) |
missense |
probably benign |
0.03 |
T0722:Zbtb8a
|
UTSW |
4 |
129,254,005 (GRCm39) |
missense |
probably benign |
|
T0722:Zbtb8a
|
UTSW |
4 |
129,253,812 (GRCm39) |
small insertion |
probably benign |
|
T0975:Zbtb8a
|
UTSW |
4 |
129,254,005 (GRCm39) |
missense |
probably benign |
|
T0975:Zbtb8a
|
UTSW |
4 |
129,253,812 (GRCm39) |
small insertion |
probably benign |
|
|
Posted On |
2014-02-04 |