Incidental Mutation 'R0436:Btbd16'
| ID |
212568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd16
|
| Ensembl Gene |
ENSMUSG00000040298 |
| Gene Name |
BTB domain containing 16 |
| Synonyms |
E330040A16Rik |
| MMRRC Submission |
038637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0436 (G1)
|
| Quality Score |
68 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
130375799-130427629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130387783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 134
(S134N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048453]
[ENSMUST00000124096]
[ENSMUST00000207219]
[ENSMUST00000208593]
|
| AlphaFold |
E9Q173 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048453
AA Change: S134N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: S134N
| 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 benign
Transcript: ENSMUST00000207219
AA Change: S134N
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208593
AA Change: S118N
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
100% (66/66) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,461,682 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
C |
T |
8: 124,697,740 (GRCm39) |
G195S |
probably benign |
Het |
| Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
| Alx4 |
A |
T |
2: 93,498,702 (GRCm39) |
K145* |
probably null |
Het |
| Arl8a |
G |
A |
1: 135,074,718 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc136 |
T |
A |
6: 29,414,933 (GRCm39) |
L474Q |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,243,079 (GRCm39) |
Y192H |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,709,511 (GRCm39) |
Q109R |
probably null |
Het |
| Cfap54 |
G |
T |
10: 92,874,837 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Cog2 |
C |
T |
8: 125,275,253 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,500,707 (GRCm39) |
N702S |
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,291,034 (GRCm39) |
D2472G |
probably damaging |
Het |
| Drgx |
T |
C |
14: 32,330,040 (GRCm39) |
F81S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,204,244 (GRCm39) |
F22L |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Eif4ebp3 |
A |
G |
18: 36,797,354 (GRCm39) |
|
probably null |
Het |
| Exd2 |
T |
C |
12: 80,537,544 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,535,047 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,378,630 (GRCm39) |
Y256C |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,504,044 (GRCm39) |
R527G |
probably benign |
Het |
| Helb |
C |
T |
10: 119,930,117 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,135,054 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,295,624 (GRCm39) |
K2611R |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,557 (GRCm39) |
H236R |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,261,042 (GRCm39) |
Y178N |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,440,864 (GRCm39) |
|
probably benign |
Het |
| Jakmip2 |
G |
A |
18: 43,691,234 (GRCm39) |
Q616* |
probably null |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Msantd4 |
C |
T |
9: 4,385,180 (GRCm39) |
R302C |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,868 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,692,429 (GRCm39) |
L293F |
probably damaging |
Het |
| Odf2l |
C |
T |
3: 144,831,877 (GRCm39) |
T44I |
possibly damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,948 (GRCm39) |
V151A |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,915,360 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
C |
T |
17: 88,873,117 (GRCm39) |
T425I |
possibly damaging |
Het |
| Prrc2b |
A |
G |
2: 32,120,672 (GRCm39) |
E2204G |
probably damaging |
Het |
| Prrc2c |
A |
C |
1: 162,532,883 (GRCm39) |
|
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,980,028 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,371,455 (GRCm39) |
V197E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,913,183 (GRCm39) |
W593R |
possibly damaging |
Het |
| Tmem63a |
A |
T |
1: 180,800,298 (GRCm39) |
T696S |
probably benign |
Het |
| Tnks2 |
A |
G |
19: 36,826,758 (GRCm39) |
D165G |
possibly damaging |
Het |
| Trim43a |
T |
C |
9: 88,470,240 (GRCm39) |
W349R |
probably damaging |
Het |
| Unc45b |
T |
C |
11: 82,820,393 (GRCm39) |
|
probably benign |
Het |
| Vmn1r4 |
T |
A |
6: 56,933,947 (GRCm39) |
N150K |
probably damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,805,769 (GRCm39) |
|
probably benign |
Het |
| Wdr77 |
T |
A |
3: 105,867,342 (GRCm39) |
D63E |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,463,164 (GRCm39) |
T672A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,851 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAATGTTCCTGAACTGACCAAGC -3'
(R):5'- ATGACCTGGAAATGCAGTCCCAC -3'
Sequencing Primer
(F):5'- tttctctctctctctctctctctc -3'
(R):5'- TTTGGGGACCATTCCAAGG -3'
|
| Posted On |
2014-07-09 |
Incidental Mutation