Incidental Mutation 'IGL00885:Btbd16'
ID |
27740 |
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 # |
IGL00885
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
130375799-130427629 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 130390552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 150
(I150V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146849
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048453]
[ENSMUST00000124096]
[ENSMUST00000207219]
[ENSMUST00000208593]
|
AlphaFold |
E9Q173 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048453
AA Change: I166V
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035433 Gene: ENSMUSG00000040298 AA Change: I166V
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 |
noncoding transcript
Transcript: ENSMUST00000207155
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207219
AA Change: I166V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208593
AA Change: I150V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf2 |
A |
T |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
Adora2a |
T |
G |
10: 75,169,285 (GRCm39) |
F250V |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,355,567 (GRCm39) |
S516P |
probably damaging |
Het |
Capn13 |
A |
T |
17: 73,646,420 (GRCm39) |
I331N |
possibly damaging |
Het |
Capzb |
A |
G |
4: 139,014,361 (GRCm39) |
S233G |
probably benign |
Het |
Clasp2 |
A |
G |
9: 113,740,484 (GRCm39) |
R1171G |
probably damaging |
Het |
Col16a1 |
T |
G |
4: 129,990,703 (GRCm39) |
I1419S |
probably damaging |
Het |
Coro7 |
T |
A |
16: 4,452,890 (GRCm39) |
Y286F |
probably benign |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Cyp11b2 |
T |
C |
15: 74,725,364 (GRCm39) |
T252A |
probably benign |
Het |
Daam1 |
T |
A |
12: 71,990,865 (GRCm39) |
C160S |
unknown |
Het |
Ephx4 |
T |
C |
5: 107,553,991 (GRCm39) |
|
probably benign |
Het |
Fbxo47 |
A |
T |
11: 97,768,946 (GRCm39) |
D63E |
probably benign |
Het |
Fgf3 |
A |
T |
7: 144,394,521 (GRCm39) |
|
probably benign |
Het |
Fstl4 |
C |
T |
11: 53,039,809 (GRCm39) |
T331I |
possibly damaging |
Het |
Gpr158 |
T |
C |
2: 21,653,832 (GRCm39) |
F467S |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,826,478 (GRCm39) |
V106I |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,481 (GRCm39) |
T271A |
possibly damaging |
Het |
Kat14 |
T |
A |
2: 144,236,175 (GRCm39) |
N302K |
probably benign |
Het |
Kmt2c |
G |
T |
5: 25,614,169 (GRCm39) |
Q184K |
possibly damaging |
Het |
Moxd2 |
A |
G |
6: 40,861,113 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
C |
A |
9: 110,467,729 (GRCm39) |
E479D |
probably damaging |
Het |
Neo1 |
A |
G |
9: 58,795,746 (GRCm39) |
L1231P |
probably damaging |
Het |
Nfatc3 |
C |
T |
8: 106,825,809 (GRCm39) |
P620L |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,126,057 (GRCm39) |
F253L |
probably damaging |
Het |
Nutm2 |
T |
A |
13: 50,628,896 (GRCm39) |
S653R |
probably benign |
Het |
Or2n1e |
A |
C |
17: 38,585,790 (GRCm39) |
I43L |
probably benign |
Het |
Or9i16 |
A |
T |
19: 13,865,532 (GRCm39) |
M14K |
probably benign |
Het |
Plcg1 |
A |
G |
2: 160,600,003 (GRCm39) |
D921G |
probably benign |
Het |
Plpp4 |
A |
T |
7: 128,923,257 (GRCm39) |
I101F |
probably damaging |
Het |
Psg17 |
A |
T |
7: 18,554,091 (GRCm39) |
L53Q |
probably damaging |
Het |
Ptpn4 |
A |
T |
1: 119,730,093 (GRCm39) |
I20N |
possibly damaging |
Het |
R3hdm1 |
A |
T |
1: 128,164,175 (GRCm39) |
I1030L |
probably damaging |
Het |
Rpl7 |
A |
C |
1: 16,172,807 (GRCm39) |
S171A |
possibly damaging |
Het |
Snx25 |
G |
A |
8: 46,491,513 (GRCm39) |
T859M |
probably damaging |
Het |
Spata31e5 |
T |
C |
1: 28,815,926 (GRCm39) |
E702G |
unknown |
Het |
Tmem94 |
A |
G |
11: 115,686,154 (GRCm39) |
M990V |
probably damaging |
Het |
Tnnt2 |
A |
G |
1: 135,774,502 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,540,029 (GRCm39) |
H34319R |
possibly damaging |
Het |
Vmn1r72 |
A |
G |
7: 11,404,424 (GRCm39) |
V8A |
probably benign |
Het |
Zbtb41 |
A |
G |
1: 139,358,062 (GRCm39) |
T457A |
probably benign |
Het |
|
Other mutations in Btbd16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Btbd16
|
APN |
7 |
130,426,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01098:Btbd16
|
APN |
7 |
130,424,975 (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 |
2013-04-17 |