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 |
Incidental Mutation