Incidental Mutation 'IGL03232:Btbd3'
ID |
413943 |
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: 0.534)
|
Stock # |
IGL03232
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
138098478-138129344 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 138126063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 416
(A416T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075410]
[ENSMUST00000091556]
|
AlphaFold |
P58545 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075410
AA Change: A416T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074864 Gene: ENSMUSG00000062098 AA Change: A416T
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 damaging
Transcript: ENSMUST00000091556
AA Change: A347T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089144 Gene: ENSMUSG00000062098 AA Change: A347T
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c19 |
A |
G |
13: 4,288,462 (GRCm39) |
T147A |
probably damaging |
Het |
Bdp1 |
A |
G |
13: 100,187,989 (GRCm39) |
L1532S |
probably damaging |
Het |
Cacna1e |
C |
T |
1: 154,369,104 (GRCm39) |
R311H |
probably damaging |
Het |
Cers2 |
T |
G |
3: 95,227,468 (GRCm39) |
V32G |
probably damaging |
Het |
Cimip2a |
A |
T |
2: 25,111,751 (GRCm39) |
R277* |
probably null |
Het |
Cog4 |
A |
G |
8: 111,607,314 (GRCm39) |
|
probably null |
Het |
Crybg3 |
C |
A |
16: 59,350,731 (GRCm39) |
G870C |
probably damaging |
Het |
Dmxl1 |
C |
T |
18: 50,011,247 (GRCm39) |
H1135Y |
probably benign |
Het |
Esr1 |
A |
C |
10: 4,919,270 (GRCm39) |
K453N |
probably damaging |
Het |
Gprc5d |
T |
C |
6: 135,093,662 (GRCm39) |
I82V |
probably benign |
Het |
H3c3 |
T |
G |
13: 23,929,164 (GRCm39) |
E106A |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,646,103 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,496,446 (GRCm39) |
T17A |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,375,245 (GRCm39) |
A4452T |
probably damaging |
Het |
Morc1 |
A |
G |
16: 48,451,165 (GRCm39) |
E948G |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,855,494 (GRCm39) |
K943E |
probably benign |
Het |
Or5b109 |
T |
A |
19: 13,212,341 (GRCm39) |
C242* |
probably null |
Het |
Or5b12b |
C |
A |
19: 12,861,636 (GRCm39) |
Y130* |
probably null |
Het |
Or5p73 |
A |
G |
7: 108,064,812 (GRCm39) |
T94A |
probably benign |
Het |
Rab21 |
T |
C |
10: 115,130,767 (GRCm39) |
|
probably benign |
Het |
Selenoi |
T |
C |
5: 30,461,259 (GRCm39) |
F140S |
probably damaging |
Het |
Serpini1 |
T |
C |
3: 75,545,317 (GRCm39) |
|
probably benign |
Het |
Sgip1 |
T |
C |
4: 102,772,251 (GRCm39) |
|
probably benign |
Het |
Smc1b |
T |
C |
15: 85,013,921 (GRCm39) |
I83M |
possibly damaging |
Het |
Smg7 |
T |
C |
1: 152,715,907 (GRCm39) |
Y1061C |
probably damaging |
Het |
Thbs2 |
A |
T |
17: 14,911,675 (GRCm39) |
M1K |
probably null |
Het |
Ubqlnl |
A |
G |
7: 103,797,836 (GRCm39) |
S554P |
possibly damaging |
Het |
|
Other mutations in Btbd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01519:Btbd3
|
APN |
2 |
138,121,697 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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 |
2016-08-02 |