Incidental Mutation 'R9431:Btbd16'
| ID |
712963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd16
|
| Ensembl Gene |
ENSMUSG00000040298 |
| Gene Name |
BTB domain containing 16 |
| Synonyms |
E330040A16Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9431 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
130375799-130427629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130417516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 344
(R344C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048453]
[ENSMUST00000124096]
[ENSMUST00000207219]
[ENSMUST00000208593]
|
| AlphaFold |
E9Q173 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048453
AA Change: R344C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: R344C
| 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: R328C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
C |
5: 88,120,325 (GRCm39) |
I361L |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,592,594 (GRCm39) |
P446L |
probably damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,170,463 (GRCm39) |
A1081D |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,545,740 (GRCm39) |
K299* |
probably null |
Het |
| Cpq |
C |
T |
15: 33,250,078 (GRCm39) |
T145I |
probably benign |
Het |
| Creb1 |
C |
A |
1: 64,615,413 (GRCm39) |
A215E |
probably damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,173,814 (GRCm39) |
A118E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,450,812 (GRCm39) |
F3873I |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,583,593 (GRCm39) |
Y203C |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,990,150 (GRCm39) |
V23A |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,142,838 (GRCm39) |
D4337G |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,387,489 (GRCm39) |
T631I |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Focad |
A |
G |
4: 88,321,583 (GRCm39) |
M1559V |
unknown |
Het |
| Fras1 |
A |
T |
5: 96,900,873 (GRCm39) |
I3031L |
possibly damaging |
Het |
| Gnas |
T |
C |
2: 174,139,826 (GRCm39) |
S58P |
unknown |
Het |
| Hdac9 |
G |
A |
12: 34,440,327 (GRCm39) |
Q351* |
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,167 (GRCm39) |
N92I |
probably damaging |
Het |
| Kank1 |
C |
A |
19: 25,387,866 (GRCm39) |
T513N |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,101,123 (GRCm39) |
T599A |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,392,253 (GRCm39) |
L992M |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,723,889 (GRCm39) |
Y245C |
probably damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,164 (GRCm39) |
H153R |
probably benign |
Het |
| Morc3 |
C |
A |
16: 93,667,771 (GRCm39) |
Y716* |
probably null |
Het |
| Mroh2b |
A |
T |
15: 4,963,952 (GRCm39) |
D848V |
probably damaging |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,682 (GRCm39) |
I216S |
possibly damaging |
Het |
| Or2d2b |
T |
A |
7: 106,705,336 (GRCm39) |
H244L |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,208,459 (GRCm39) |
I29V |
probably benign |
Het |
| Or5h27 |
A |
G |
16: 59,006,090 (GRCm39) |
V252A |
unknown |
Het |
| Or6ae1 |
T |
A |
7: 139,741,942 (GRCm39) |
Q307L |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,898,815 (GRCm39) |
E170G |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,780,074 (GRCm39) |
V112A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,229,545 (GRCm39) |
S125P |
probably benign |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slc12a5 |
T |
C |
2: 164,832,178 (GRCm39) |
V699A |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,278,742 (GRCm39) |
V49A |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,598,596 (GRCm39) |
T218A |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,505,278 (GRCm39) |
D422G |
probably damaging |
Het |
| Slc37a3 |
T |
C |
6: 39,324,363 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Slc39a8 |
T |
C |
3: 135,563,923 (GRCm39) |
V256A |
probably benign |
Het |
| Slc45a2 |
G |
A |
15: 11,026,005 (GRCm39) |
E452K |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,546,035 (GRCm39) |
C60Y |
probably damaging |
Het |
| St8sia3 |
T |
A |
18: 64,398,640 (GRCm39) |
L33Q |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
| Trim37 |
T |
A |
11: 87,077,257 (GRCm39) |
V529E |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,178,225 (GRCm39) |
T431S |
probably benign |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,544,679 (GRCm39) |
V32808M |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,168,856 (GRCm39) |
Y758C |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,423,046 (GRCm39) |
P1015S |
probably benign |
Het |
| Whamm |
A |
G |
7: 81,236,035 (GRCm39) |
R413G |
probably damaging |
Het |
| Zbtb41 |
C |
T |
1: 139,350,781 (GRCm39) |
|
probably benign |
Het |
| Zfp119b |
A |
G |
17: 56,246,536 (GRCm39) |
S217P |
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 |
|
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 |
|
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'- GGAAGACAACCACGCATTGC -3'
(R):5'- TCGCACTTCTTAGGCGTGAC -3'
Sequencing Primer
(F):5'- GCTGACCTGGATTTCACAAGC -3'
(R):5'- CTTCTTAGGCGTGACAATCTCAAGAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation