Incidental Mutation 'IGL01098:Btbd16'
| ID |
51525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Btbd16
|
| Ensembl Gene |
ENSMUSG00000040298 |
| Gene Name |
BTB domain containing 16 |
| Synonyms |
E330040A16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01098
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
130375799-130427629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130424975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 452
(I452T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048453]
[ENSMUST00000124096]
[ENSMUST00000207219]
[ENSMUST00000208593]
|
| AlphaFold |
E9Q173 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048453
AA Change: I468T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: I468T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Blast:BTB
|
97 |
222 |
3e-47 |
BLAST |
|
SCOP:d1buoa_
|
154 |
218 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207219
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208593
AA Change: I452T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,453 (GRCm39) |
D75G |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,999,688 (GRCm39) |
R765S |
possibly damaging |
Het |
| Cdc42ep4 |
T |
G |
11: 113,620,328 (GRCm39) |
D21A |
probably damaging |
Het |
| Cdx2 |
T |
A |
5: 147,243,792 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 127,952,845 (GRCm39) |
T98M |
probably damaging |
Het |
| Cyp26a1 |
A |
T |
19: 37,688,450 (GRCm39) |
Q324L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,896,059 (GRCm39) |
V686A |
probably damaging |
Het |
| Gpr6 |
G |
A |
10: 40,946,739 (GRCm39) |
T281I |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,369,204 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 26,907,108 (GRCm39) |
I2351N |
possibly damaging |
Het |
| Lman1 |
A |
G |
18: 66,124,711 (GRCm39) |
F343L |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 108,742,657 (GRCm39) |
|
probably benign |
Het |
| Lrrc17 |
T |
A |
5: 21,780,269 (GRCm39) |
F414L |
probably benign |
Het |
| Man2b2 |
A |
T |
5: 36,972,900 (GRCm39) |
L538Q |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,770,928 (GRCm39) |
S910P |
probably damaging |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,191 (GRCm39) |
P80S |
probably damaging |
Het |
| Mindy4 |
G |
T |
6: 55,261,727 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,583,619 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,924,081 (GRCm39) |
D187G |
probably damaging |
Het |
| Olfml2a |
A |
G |
2: 38,837,226 (GRCm39) |
|
probably null |
Het |
| Pink1 |
A |
T |
4: 138,047,408 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
T |
C |
1: 133,209,903 (GRCm39) |
F575L |
possibly damaging |
Het |
| Rpe |
C |
A |
1: 66,745,674 (GRCm39) |
D71E |
probably benign |
Het |
| Slc5a7 |
C |
T |
17: 54,599,988 (GRCm39) |
A142T |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,109,385 (GRCm39) |
R70K |
probably damaging |
Het |
| Taf1c |
G |
T |
8: 120,329,580 (GRCm39) |
Q159K |
probably damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,851,693 (GRCm39) |
F311S |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmed8 |
G |
T |
12: 87,223,445 (GRCm39) |
A98E |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,870,041 (GRCm39) |
I76T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,358 (GRCm39) |
E37G |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,496,296 (GRCm39) |
V474E |
probably damaging |
Het |
| Vps52 |
C |
T |
17: 34,181,704 (GRCm39) |
T510I |
possibly damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zer1 |
C |
T |
2: 29,998,232 (GRCm39) |
|
probably null |
Het |
| Zfp296 |
A |
T |
7: 19,311,845 (GRCm39) |
K117N |
possibly damaging |
Het |
|
| Other mutations in Btbd16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Btbd16
|
APN |
7 |
130,390,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01020:Btbd16
|
APN |
7 |
130,426,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Btbd16
|
APN |
7 |
130,407,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
1mM(1):Btbd16
|
UTSW |
7 |
130,423,221 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0063:Btbd16
|
UTSW |
7 |
130,424,896 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0063:Btbd16
|
UTSW |
7 |
130,424,896 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0147:Btbd16
|
UTSW |
7 |
130,381,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Btbd16
|
UTSW |
7 |
130,387,783 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0715:Btbd16
|
UTSW |
7 |
130,390,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Btbd16
|
UTSW |
7 |
130,386,038 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2411:Btbd16
|
UTSW |
7 |
130,391,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Btbd16
|
UTSW |
7 |
130,378,870 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5595:Btbd16
|
UTSW |
7 |
130,425,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Btbd16
|
UTSW |
7 |
130,425,033 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5839:Btbd16
|
UTSW |
7 |
130,417,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5933:Btbd16
|
UTSW |
7 |
130,386,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6029:Btbd16
|
UTSW |
7 |
130,420,802 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7255:Btbd16
|
UTSW |
7 |
130,387,722 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7355:Btbd16
|
UTSW |
7 |
130,423,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7405:Btbd16
|
UTSW |
7 |
130,407,586 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7527:Btbd16
|
UTSW |
7 |
130,422,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Btbd16
|
UTSW |
7 |
130,426,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8151:Btbd16
|
UTSW |
7 |
130,398,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8429:Btbd16
|
UTSW |
7 |
130,397,067 (GRCm39) |
missense |
probably benign |
|
|
R9142:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9143:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Btbd16
|
UTSW |
7 |
130,381,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9266:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9362:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9392:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Btbd16
|
UTSW |
7 |
130,417,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Btbd16
|
UTSW |
7 |
130,407,595 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9611:Btbd16
|
UTSW |
7 |
130,407,595 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0064:Btbd16
|
UTSW |
7 |
130,424,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation