Incidental Mutation 'R9143:Btbd16'
| ID |
694443 |
| 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 # |
R9143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.0%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
C |
17: 48,452,605 (GRCm39) |
I111M |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,259,715 (GRCm39) |
I292V |
probably damaging |
Het |
| Atl3 |
T |
C |
19: 7,509,408 (GRCm39) |
S379P |
probably benign |
Het |
| Ccnt1 |
G |
A |
15: 98,441,688 (GRCm39) |
H527Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,912,707 (GRCm39) |
I244F |
probably damaging |
Het |
| Clec16a |
C |
A |
16: 10,428,964 (GRCm39) |
S449R |
probably damaging |
Het |
| Cngb3 |
T |
A |
4: 19,375,190 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,337,276 (GRCm39) |
|
probably benign |
Het |
| Dsp |
C |
A |
13: 38,377,337 (GRCm39) |
S1707R |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,347,004 (GRCm39) |
Q162L |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,502 (GRCm39) |
N69S |
probably benign |
Het |
| Galnt10 |
C |
T |
11: 57,612,146 (GRCm39) |
T62I |
probably benign |
Het |
| Gm19668 |
T |
C |
10: 77,634,960 (GRCm39) |
D3G |
unknown |
Het |
| Hace1 |
T |
A |
10: 45,562,764 (GRCm39) |
F760I |
probably damaging |
Het |
| Il20rb |
A |
G |
9: 100,356,936 (GRCm39) |
Y65H |
probably damaging |
Het |
| Insl5 |
C |
A |
4: 102,883,841 (GRCm39) |
V27L |
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,715,930 (GRCm39) |
D425G |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,087,272 (GRCm39) |
K183R |
probably benign |
Het |
| Lrrc59 |
T |
A |
11: 94,525,456 (GRCm39) |
L84Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,835,750 (GRCm39) |
F1811I |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,062,883 (GRCm39) |
|
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,121,792 (GRCm39) |
S371P |
probably benign |
Het |
| Nin |
A |
G |
12: 70,137,349 (GRCm39) |
S76P |
|
Het |
| Nuak1 |
C |
T |
10: 84,213,951 (GRCm39) |
|
probably null |
Het |
| Or8b47 |
A |
T |
9: 38,427,917 (GRCm39) |
|
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,722 (GRCm39) |
I109F |
possibly damaging |
Het |
| Pld1 |
A |
G |
3: 28,132,643 (GRCm39) |
|
probably benign |
Het |
| Rcvrn |
T |
C |
11: 67,590,890 (GRCm39) |
F158S |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,885,409 (GRCm39) |
T200A |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,292,503 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,934,906 (GRCm39) |
T704M |
probably benign |
Het |
| Stxbp1 |
A |
G |
2: 32,688,157 (GRCm39) |
S503P |
probably damaging |
Het |
| Susd5 |
A |
T |
9: 113,924,879 (GRCm39) |
E254V |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,097,983 (GRCm39) |
S529P |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,310 (GRCm39) |
N392K |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,842,220 (GRCm39) |
L525P |
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,514,824 (GRCm39) |
M1127V |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,900,705 (GRCm39) |
E585V |
probably benign |
Het |
| Usp19 |
T |
G |
9: 108,375,398 (GRCm39) |
L847R |
probably damaging |
Het |
| Vta1 |
T |
C |
10: 14,551,776 (GRCm39) |
H141R |
possibly damaging |
Het |
| Zfp950 |
G |
T |
19: 61,108,778 (GRCm39) |
P102T |
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,163,908 (GRCm39) |
I869T |
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 |
|
R8429:Btbd16
|
UTSW |
7 |
130,397,067 (GRCm39) |
missense |
probably benign |
|
|
R9142: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'- TCTAGCCTTGCTGGGGAAAC -3'
(R):5'- AGCATGCTATCAGTGGACG -3'
Sequencing Primer
(F):5'- GGAAACCACTGGTCTCTTAAGTC -3'
(R):5'- GTTACTGAGACCAAAGTCGCACTTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation