Incidental Mutation 'R6350:Kcnmb1'
ID |
514157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnmb1
|
Ensembl Gene |
ENSMUSG00000020155 |
Gene Name |
potassium large conductance calcium-activated channel, subfamily M, beta member 1 |
Synonyms |
BKbeta1, BK channel beta subunit |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6350 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
33913013-33923641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33914711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 4
(K4R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020362]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020362
AA Change: K4R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020362 Gene: ENSMUSG00000020155 AA Change: K4R
Domain | Start | End | E-Value | Type |
Pfam:CaKB
|
7 |
190 |
5.4e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135034
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154760
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in increased blood pressure, and impaired motor coordination and cerebellar function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
probably damaging |
Het |
|
Other mutations in Kcnmb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02321:Kcnmb1
|
APN |
11 |
33,920,091 (GRCm39) |
splice site |
probably benign |
|
G1citation:Kcnmb1
|
UTSW |
11 |
33,914,686 (GRCm39) |
start gained |
probably benign |
|
R0737:Kcnmb1
|
UTSW |
11 |
33,914,701 (GRCm39) |
start codon destroyed |
probably benign |
0.18 |
R3153:Kcnmb1
|
UTSW |
11 |
33,916,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R6822:Kcnmb1
|
UTSW |
11 |
33,914,686 (GRCm39) |
start gained |
probably benign |
|
R6995:Kcnmb1
|
UTSW |
11 |
33,920,131 (GRCm39) |
missense |
probably benign |
0.02 |
R7872:Kcnmb1
|
UTSW |
11 |
33,916,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R8903:Kcnmb1
|
UTSW |
11 |
33,914,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R9098:Kcnmb1
|
UTSW |
11 |
33,914,806 (GRCm39) |
missense |
probably damaging |
0.99 |
R9151:Kcnmb1
|
UTSW |
11 |
33,920,263 (GRCm39) |
missense |
probably benign |
0.30 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATGTTGTTATTTGGTTGCATCCC -3'
(R):5'- CCTGAAGATGACGAATGCCTC -3'
Sequencing Primer
(F):5'- ATTTGGTTGCATCCCCTCATG -3'
(R):5'- TGTCCTGACTACCGTGACG -3'
|
Posted On |
2018-04-27 |