Incidental Mutation 'IGL01519:Btbd3'
ID |
89408 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Btbd3
|
Ensembl Gene |
ENSMUSG00000062098 |
Gene Name |
BTB domain containing 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.568)
|
Stock # |
IGL01519
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
138098478-138129344 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 138121697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 127
(M127V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075410]
[ENSMUST00000091556]
|
AlphaFold |
P58545 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075410
AA Change: M127V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000074864 Gene: ENSMUSG00000062098 AA Change: M127V
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
51 |
N/A |
INTRINSIC |
low complexity region
|
63 |
69 |
N/A |
INTRINSIC |
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
BTB
|
128 |
228 |
5.55e-23 |
SMART |
BACK
|
234 |
343 |
1.11e-12 |
SMART |
Pfam:PHR
|
384 |
529 |
4.1e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091556
AA Change: M58V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000089144 Gene: ENSMUSG00000062098 AA Change: M58V
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
BTB
|
59 |
159 |
5.55e-23 |
SMART |
BACK
|
165 |
274 |
1.11e-12 |
SMART |
Pfam:PHR
|
315 |
461 |
8.6e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128656
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155646
|
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 |
Akap17b |
T |
C |
X: 35,875,503 (GRCm39) |
D668G |
probably damaging |
Het |
Btbd9 |
T |
C |
17: 30,518,575 (GRCm39) |
T462A |
possibly damaging |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Chd1 |
G |
A |
17: 17,598,831 (GRCm39) |
G98R |
probably damaging |
Het |
Ckap2 |
G |
A |
8: 22,658,914 (GRCm39) |
R610C |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,895,157 (GRCm39) |
R1168H |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,460,246 (GRCm39) |
T3515I |
probably benign |
Het |
Dcn |
A |
G |
10: 97,319,385 (GRCm39) |
Q54R |
probably damaging |
Het |
Dock11 |
A |
G |
X: 35,227,006 (GRCm39) |
I86V |
probably benign |
Het |
Dram2 |
T |
A |
3: 106,478,945 (GRCm39) |
I179N |
possibly damaging |
Het |
Fbn1 |
C |
T |
2: 125,158,939 (GRCm39) |
M2275I |
probably benign |
Het |
Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
Gk2 |
T |
A |
5: 97,603,646 (GRCm39) |
L397F |
probably damaging |
Het |
Gm8122 |
T |
A |
14: 43,092,696 (GRCm39) |
I22L |
unknown |
Het |
Golga4 |
A |
G |
9: 118,356,160 (GRCm39) |
E104G |
probably damaging |
Het |
Herc2 |
G |
A |
7: 55,753,698 (GRCm39) |
R699H |
probably damaging |
Het |
Hrh1 |
A |
C |
6: 114,457,262 (GRCm39) |
E181A |
probably damaging |
Het |
Lsm8 |
T |
C |
6: 18,851,699 (GRCm39) |
F50S |
probably damaging |
Het |
Or1f19 |
T |
A |
16: 3,410,398 (GRCm39) |
I46N |
probably damaging |
Het |
Pard6g |
A |
G |
18: 80,123,071 (GRCm39) |
D35G |
probably benign |
Het |
Plod2 |
G |
A |
9: 92,477,348 (GRCm39) |
V347I |
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,144,331 (GRCm39) |
R161G |
probably benign |
Het |
Snx13 |
T |
C |
12: 35,188,471 (GRCm39) |
|
probably benign |
Het |
Taf1 |
T |
A |
X: 100,606,412 (GRCm39) |
|
probably benign |
Het |
Tars3 |
A |
G |
7: 65,313,634 (GRCm39) |
Y351C |
probably damaging |
Het |
Tenm4 |
C |
A |
7: 96,544,384 (GRCm39) |
D2133E |
probably damaging |
Het |
Thap7 |
A |
C |
16: 17,346,609 (GRCm39) |
|
probably benign |
Het |
Tpr |
T |
A |
1: 150,306,919 (GRCm39) |
S1505T |
probably benign |
Het |
Trav9-2 |
C |
T |
14: 53,828,809 (GRCm39) |
R60W |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,708,692 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Btbd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01650:Btbd3
|
APN |
2 |
138,126,025 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01783:Btbd3
|
APN |
2 |
138,125,656 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03108:Btbd3
|
APN |
2 |
138,126,043 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03232:Btbd3
|
APN |
2 |
138,126,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03259:Btbd3
|
APN |
2 |
138,121,680 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03405:Btbd3
|
APN |
2 |
138,121,681 (GRCm39) |
missense |
probably damaging |
0.98 |
R0540:Btbd3
|
UTSW |
2 |
138,125,736 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0607:Btbd3
|
UTSW |
2 |
138,125,736 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1171:Btbd3
|
UTSW |
2 |
138,125,881 (GRCm39) |
missense |
probably benign |
0.03 |
R1983:Btbd3
|
UTSW |
2 |
138,125,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R2034:Btbd3
|
UTSW |
2 |
138,120,903 (GRCm39) |
missense |
probably benign |
0.15 |
R5111:Btbd3
|
UTSW |
2 |
138,120,829 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R6170:Btbd3
|
UTSW |
2 |
138,120,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R6663:Btbd3
|
UTSW |
2 |
138,121,003 (GRCm39) |
missense |
probably benign |
0.00 |
R6708:Btbd3
|
UTSW |
2 |
138,125,491 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7210:Btbd3
|
UTSW |
2 |
138,125,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Btbd3
|
UTSW |
2 |
138,126,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9001:Btbd3
|
UTSW |
2 |
138,122,296 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9008:Btbd3
|
UTSW |
2 |
138,125,453 (GRCm39) |
missense |
probably benign |
0.12 |
R9801:Btbd3
|
UTSW |
2 |
138,122,368 (GRCm39) |
nonsense |
probably null |
|
Z1189:Btbd3
|
UTSW |
2 |
138,126,010 (GRCm39) |
small deletion |
probably benign |
|
Z1192:Btbd3
|
UTSW |
2 |
138,126,010 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2013-12-03 |