Incidental Mutation 'R2411:Btbd16'
ID |
249992 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btbd16
|
Ensembl Gene |
ENSMUSG00000040298 |
Gene Name |
BTB domain containing 16 |
Synonyms |
E330040A16Rik |
MMRRC Submission |
040376-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2411 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
130375799-130427629 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 130391954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 160
(F160L)
|
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: F176L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035433 Gene: ENSMUSG00000040298 AA Change: F176L
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: F176L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208593
AA Change: F160L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.2922 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
98% (42/43) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
Creld1 |
A |
G |
6: 113,466,737 (GRCm39) |
H240R |
probably benign |
Het |
Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Lilra6 |
T |
C |
7: 3,914,453 (GRCm39) |
Y566C |
probably damaging |
Het |
Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or14c44 |
T |
C |
7: 86,062,290 (GRCm39) |
V281A |
possibly damaging |
Het |
Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
Ppp2r3c |
T |
C |
12: 55,345,269 (GRCm39) |
K73R |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
Tor1b |
G |
T |
2: 30,845,824 (GRCm39) |
S167I |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
Zfp160 |
C |
T |
17: 21,246,007 (GRCm39) |
R186C |
possibly damaging |
Het |
Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGATCAGCTTTCCTTGCC -3'
(R):5'- CTCTAAGTCAGGTTTGGGACAG -3'
Sequencing Primer
(F):5'- CTTCTTCAGCAAGCTGTGGG -3'
(R):5'- CTAAGTCAGGTTTGGGACAGAGGAAC -3'
|
Posted On |
2014-11-12 |