Incidental Mutation 'R8429:Btbd16'
| ID |
653653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd16
|
| Ensembl Gene |
ENSMUSG00000040298 |
| Gene Name |
BTB domain containing 16 |
| Synonyms |
E330040A16Rik |
| MMRRC Submission |
067774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
130375799-130427629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130397067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 223
(A223T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048453]
[ENSMUST00000124096]
[ENSMUST00000207219]
[ENSMUST00000208593]
|
| AlphaFold |
E9Q173 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048453
AA Change: A223T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: A223T
| 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
AA Change: A223T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208593
AA Change: A207T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
T |
17: 48,347,875 (GRCm39) |
L143* |
probably null |
Het |
| 2900026A02Rik |
T |
C |
5: 113,331,302 (GRCm39) |
T971A |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,093,208 (GRCm39) |
C1022S |
probably benign |
Het |
| Adgrf4 |
G |
T |
17: 42,978,340 (GRCm39) |
N334K |
probably benign |
Het |
| Baz1b |
A |
G |
5: 135,246,185 (GRCm39) |
K545E |
probably benign |
Het |
| Bin3 |
A |
G |
14: 70,374,598 (GRCm39) |
Y209C |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,529,811 (GRCm39) |
V555A |
probably damaging |
Het |
| Calm3 |
T |
A |
7: 16,653,592 (GRCm39) |
|
probably null |
Het |
| Cct4 |
T |
A |
11: 22,946,030 (GRCm39) |
L124Q |
probably damaging |
Het |
| Cenpf |
C |
T |
1: 189,389,504 (GRCm39) |
D1443N |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
| Epha4 |
G |
T |
1: 77,366,673 (GRCm39) |
Q591K |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,088,133 (GRCm39) |
F929L |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,366,522 (GRCm39) |
D95V |
possibly damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,759 (GRCm39) |
H190L |
probably benign |
Het |
| Gm45713 |
T |
C |
7: 44,785,540 (GRCm39) |
S2G |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,710,914 (GRCm39) |
I877M |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,255 (GRCm39) |
I119V |
probably benign |
Het |
| Hcar2 |
C |
T |
5: 124,003,538 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
C |
A |
6: 145,110,949 (GRCm39) |
D251E |
probably damaging |
Het |
| Krt13 |
A |
T |
11: 100,011,951 (GRCm39) |
L124Q |
probably damaging |
Het |
| Larp1b |
A |
G |
3: 40,931,662 (GRCm39) |
*336W |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,032 (GRCm39) |
N160I |
probably benign |
Het |
| Mfsd2b |
G |
T |
12: 4,916,487 (GRCm39) |
Q331K |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,944,460 (GRCm39) |
V930E |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,173 (GRCm39) |
F252I |
probably benign |
Het |
| Nars1 |
A |
G |
18: 64,634,391 (GRCm39) |
Y511H |
probably damaging |
Het |
| Naxe |
C |
A |
3: 87,965,459 (GRCm39) |
S84I |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,523 (GRCm39) |
D634V |
probably damaging |
Het |
| Npat |
C |
T |
9: 53,481,909 (GRCm39) |
Q1206* |
probably null |
Het |
| Nr1d2 |
G |
A |
14: 18,215,409 (GRCm38) |
T201I |
probably benign |
Het |
| Nt5el |
A |
G |
13: 105,255,296 (GRCm39) |
Y459C |
probably damaging |
Het |
| Nup155 |
C |
T |
15: 8,141,904 (GRCm39) |
H99Y |
probably damaging |
Het |
| Or10ag60 |
G |
T |
2: 87,437,868 (GRCm39) |
L45F |
probably benign |
Het |
| Or4f4b |
G |
A |
2: 111,313,840 (GRCm39) |
V50I |
possibly damaging |
Het |
| Or5ac25 |
A |
G |
16: 59,181,990 (GRCm39) |
V197A |
possibly damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,092 (GRCm39) |
V219A |
possibly damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,365,916 (GRCm39) |
Y214N |
probably damaging |
Het |
| Pex7 |
T |
C |
10: 19,770,074 (GRCm39) |
T145A |
probably damaging |
Het |
| Plekhj1 |
C |
T |
10: 80,632,304 (GRCm39) |
S146N |
probably benign |
Het |
| Ralgapb |
C |
T |
2: 158,268,217 (GRCm39) |
P107S |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 52,074,978 (GRCm39) |
M506T |
probably damaging |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,821 (GRCm39) |
N203D |
possibly damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,562,342 (GRCm39) |
I240F |
probably benign |
Het |
| Spata31h1 |
G |
T |
10: 82,125,301 (GRCm39) |
Q2570K |
possibly damaging |
Het |
| Syt17 |
T |
A |
7: 118,033,564 (GRCm39) |
Y144F |
probably benign |
Het |
| Thbd |
G |
T |
2: 148,249,457 (GRCm39) |
T137K |
possibly damaging |
Het |
| Tmem114 |
A |
G |
16: 8,230,031 (GRCm39) |
F124L |
probably damaging |
Het |
| Ubtd1 |
G |
T |
19: 42,020,556 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
A |
G |
13: 67,406,152 (GRCm39) |
Y96H |
possibly damaging |
Het |
| Zfp78 |
T |
C |
7: 6,381,492 (GRCm39) |
S181P |
probably benign |
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 |
|
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 |
|
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'- AAGAATCTGGGGTCCCTCTG -3'
(R):5'- AGCTACTCTTGGCTTGATGC -3'
Sequencing Primer
(F):5'- GAGCTCCCATAATAGGCCATCTGG -3'
(R):5'- CTACTCTTGGCTTGATGCTTTTGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation