Incidental Mutation 'R9362:Btbd16'
ID |
708751 |
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 # |
R9362 (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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (41/41) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
A |
15: 94,236,626 (GRCm39) |
N798I |
possibly damaging |
Het |
Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
Arhgef17 |
A |
C |
7: 100,580,165 (GRCm39) |
L261R |
probably benign |
Het |
Bcr |
C |
A |
10: 74,993,023 (GRCm39) |
N839K |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,011,162 (GRCm39) |
T1786A |
probably benign |
Het |
Bmpr1a |
A |
G |
14: 34,156,360 (GRCm39) |
I169T |
probably benign |
Het |
Ccdc88a |
T |
A |
11: 29,453,922 (GRCm39) |
L1695Q |
probably null |
Het |
Cnr1 |
T |
C |
4: 33,944,038 (GRCm39) |
I142T |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Elmod1 |
T |
A |
9: 53,833,304 (GRCm39) |
D167V |
possibly damaging |
Het |
Fam136a |
C |
T |
6: 86,345,855 (GRCm39) |
T124I |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 54,623,064 (GRCm39) |
D70G |
probably benign |
Het |
Ggcx |
T |
G |
6: 72,405,015 (GRCm39) |
N474K |
probably damaging |
Het |
Gm10295 |
C |
A |
7: 71,000,755 (GRCm39) |
|
probably benign |
Het |
Gm5145 |
A |
G |
17: 20,791,342 (GRCm39) |
H240R |
probably damaging |
Het |
Gsr |
A |
T |
8: 34,179,406 (GRCm39) |
D338V |
probably damaging |
Het |
Hcfc2 |
C |
T |
10: 82,574,258 (GRCm39) |
P144L |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,941,062 (GRCm39) |
I473N |
probably benign |
Het |
Ighv5-8 |
A |
T |
12: 113,616,940 (GRCm39) |
D107E |
probably benign |
Het |
Il23r |
T |
A |
6: 67,400,384 (GRCm39) |
S649C |
probably damaging |
Het |
Ltbp3 |
A |
G |
19: 5,803,697 (GRCm39) |
D794G |
probably benign |
Het |
Mapk3 |
A |
G |
7: 126,363,444 (GRCm39) |
I273V |
|
Het |
Mycbp2 |
C |
T |
14: 103,497,642 (GRCm39) |
V977I |
probably damaging |
Het |
Myh7 |
A |
G |
14: 55,222,932 (GRCm39) |
F758L |
probably benign |
Het |
Myom1 |
A |
T |
17: 71,343,288 (GRCm39) |
I162F |
probably benign |
Het |
Ncor2 |
C |
T |
5: 125,095,265 (GRCm39) |
C1541Y |
|
Het |
Nwd2 |
G |
T |
5: 63,961,747 (GRCm39) |
D444Y |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,482,391 (GRCm39) |
Y160H |
probably benign |
Het |
Or8u8 |
C |
A |
2: 86,011,732 (GRCm39) |
C241F |
probably damaging |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Sall2 |
T |
A |
14: 52,550,601 (GRCm39) |
K865* |
probably null |
Het |
Shank2 |
A |
T |
7: 143,963,271 (GRCm39) |
D293V |
probably damaging |
Het |
Sidt1 |
T |
C |
16: 44,078,316 (GRCm39) |
Y649C |
possibly damaging |
Het |
Slc11a2 |
T |
C |
15: 100,304,236 (GRCm39) |
E154G |
probably damaging |
Het |
Slc5a12 |
C |
T |
2: 110,447,044 (GRCm39) |
T184I |
probably damaging |
Het |
Slfn3 |
T |
C |
11: 83,103,807 (GRCm39) |
I226T |
probably benign |
Het |
Snapc4 |
T |
A |
2: 26,254,865 (GRCm39) |
N1220Y |
probably damaging |
Het |
Tars1 |
A |
G |
15: 11,387,616 (GRCm39) |
C557R |
probably damaging |
Het |
Tead2 |
A |
G |
7: 44,881,740 (GRCm39) |
E402G |
probably damaging |
Het |
Zfp37 |
G |
A |
4: 62,110,299 (GRCm39) |
S296F |
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 |
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 |
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'- GGAAGACAACCACGCATTGC -3'
(R):5'- TCGCACTTCTTAGGCGTGAC -3'
Sequencing Primer
(F):5'- GCTGACCTGGATTTCACAAGC -3'
(R):5'- CTTCTTAGGCGTGACAATCTCAAGAG -3'
|
Posted On |
2022-04-18 |