Incidental Mutation 'R9418:Btbd16'
| ID |
712174 |
| 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 # |
R9418 (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: 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
A |
5: 138,645,317 (GRCm39) |
G401R |
probably damaging |
Het |
| Adgrf5 |
G |
A |
17: 43,737,864 (GRCm39) |
V233I |
probably benign |
Het |
| Ankrd34b |
A |
G |
13: 92,575,232 (GRCm39) |
K155E |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,871,766 (GRCm39) |
H839Q |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,303,669 (GRCm39) |
L251P |
probably damaging |
Het |
| Ciita |
G |
T |
16: 10,319,765 (GRCm39) |
E63* |
probably null |
Het |
| Cmya5 |
T |
C |
13: 93,226,209 (GRCm39) |
T2960A |
probably benign |
Het |
| Cyp2b13 |
A |
T |
7: 25,761,110 (GRCm39) |
I56F |
probably benign |
Het |
| Dcaf4 |
A |
T |
12: 83,586,606 (GRCm39) |
Y422F |
probably benign |
Het |
| Dhrs7b |
A |
T |
11: 60,746,594 (GRCm39) |
I228F |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,885,167 (GRCm39) |
S853P |
probably benign |
Het |
| Dzank1 |
C |
T |
2: 144,355,408 (GRCm39) |
V96M |
probably damaging |
Het |
| Fap |
G |
A |
2: 62,385,181 (GRCm39) |
Q65* |
probably null |
Het |
| Fbxo47 |
T |
A |
11: 97,747,067 (GRCm39) |
N333I |
possibly damaging |
Het |
| Fem1al |
C |
T |
11: 29,774,632 (GRCm39) |
C275Y |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gpr171 |
T |
C |
3: 59,004,999 (GRCm39) |
T259A |
possibly damaging |
Het |
| Hectd2 |
T |
A |
19: 36,589,574 (GRCm39) |
S595T |
probably benign |
Het |
| Hexa |
A |
G |
9: 59,464,592 (GRCm39) |
I161V |
probably benign |
Het |
| Hira |
A |
G |
16: 18,770,025 (GRCm39) |
T777A |
probably benign |
Het |
| Il2ra |
T |
C |
2: 11,689,203 (GRCm39) |
F244S |
possibly damaging |
Het |
| Kcne3 |
A |
G |
7: 99,833,385 (GRCm39) |
M1V |
probably null |
Het |
| Kcnj1 |
G |
A |
9: 32,308,203 (GRCm39) |
C209Y |
probably damaging |
Het |
| Kcnj2 |
A |
T |
11: 110,963,357 (GRCm39) |
I250F |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,228,741 (GRCm39) |
|
probably benign |
Het |
| Leng9 |
T |
C |
7: 4,151,354 (GRCm39) |
T441A |
probably benign |
Het |
| Lingo2 |
T |
C |
4: 35,709,035 (GRCm39) |
H315R |
probably benign |
Het |
| Lrrc7 |
A |
T |
3: 157,908,023 (GRCm39) |
S266T |
possibly damaging |
Het |
| Mab21l4 |
A |
C |
1: 93,087,710 (GRCm39) |
L48V |
probably benign |
Het |
| Mib1 |
A |
G |
18: 10,812,064 (GRCm39) |
D987G |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,234,358 (GRCm39) |
V12A |
probably benign |
Het |
| Mta1 |
G |
T |
12: 113,094,987 (GRCm39) |
R415L |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,017,700 (GRCm39) |
V479E |
probably benign |
Het |
| Mylk3 |
C |
A |
8: 86,091,444 (GRCm39) |
M120I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,879 (GRCm39) |
V204M |
probably benign |
Het |
| Or2v2 |
G |
T |
11: 49,004,484 (GRCm39) |
P23Q |
probably benign |
Het |
| Otog |
A |
T |
7: 45,938,024 (GRCm39) |
Q1911L |
probably benign |
Het |
| Pcdh20 |
C |
T |
14: 88,705,455 (GRCm39) |
C615Y |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,433,464 (GRCm39) |
H294R |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,328,354 (GRCm39) |
I633F |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pip5k1b |
A |
G |
19: 24,327,581 (GRCm39) |
V425A |
probably benign |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rab23 |
A |
T |
1: 33,777,424 (GRCm39) |
E179D |
probably benign |
Het |
| Slc12a6 |
C |
A |
2: 112,174,555 (GRCm39) |
L522I |
|
Het |
| Slc22a19 |
A |
T |
19: 7,660,210 (GRCm39) |
M400K |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Spsb2 |
C |
A |
6: 124,786,282 (GRCm39) |
A5D |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,391,952 (GRCm39) |
E169G |
probably damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,134 (GRCm39) |
C117S |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,415,087 (GRCm39) |
L294P |
possibly damaging |
Het |
| Ubc |
T |
C |
5: 125,464,466 (GRCm39) |
Y287C |
probably damaging |
Het |
| Uroc1 |
G |
T |
6: 90,313,880 (GRCm39) |
V56F |
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,872,292 (GRCm39) |
F237I |
probably damaging |
Het |
| Xxylt1 |
A |
T |
16: 30,826,624 (GRCm39) |
Y230* |
probably null |
Het |
| Zfp467 |
A |
T |
6: 48,415,990 (GRCm39) |
C221S |
probably 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 |
|
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'- AGCATGCTATCAGTGGACGTTC -3'
Sequencing Primer
(F):5'- GGAAACCACTGGTCTCTTAAGTC -3'
(R):5'- GTTACTGAGACCAAAGTCGCACTTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation