Incidental Mutation 'R5463:Kcnmb4'
| ID |
433112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnmb4
|
| Ensembl Gene |
ENSMUSG00000054934 |
| Gene Name |
potassium large conductance calcium-activated channel, subfamily M, beta member 4 |
| Synonyms |
Slowpoke beta 4, 2900045G12Rik |
| MMRRC Submission |
043025-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5463 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
116253766-116309783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116309410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 6
(V6E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068233]
|
| AlphaFold |
Q9JIN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068233
AA Change: V6E
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: V6E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CaKB
|
8 |
203 |
2.7e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000080943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000087965
|
| SMART Domains |
Protein: ENSMUSP00000085278
Gene: ENSMUSG00000054934
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CaKB
|
1 |
110 |
1.6e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164271
|
| Meta Mutation Damage Score |
0.1095 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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 modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
C |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,782,200 (GRCm39) |
S71T |
possibly damaging |
Het |
| BC048507 |
T |
C |
13: 68,011,817 (GRCm39) |
Y65H |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,720 (GRCm39) |
E1221G |
probably benign |
Het |
| Calb1 |
G |
T |
4: 15,885,656 (GRCm39) |
V76L |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,879,689 (GRCm39) |
K500* |
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,034,860 (GRCm39) |
T2437I |
probably benign |
Het |
| Cyp27b1 |
G |
A |
10: 126,887,966 (GRCm39) |
V493I |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,740,554 (GRCm39) |
T29S |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,328 (GRCm39) |
V624A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,069,140 (GRCm39) |
I2464V |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,721,254 (GRCm39) |
|
probably null |
Het |
| Erap1 |
C |
T |
13: 74,794,533 (GRCm39) |
T64I |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,405,948 (GRCm39) |
Y1156* |
probably null |
Het |
| Fam168a |
G |
A |
7: 100,484,602 (GRCm39) |
A231T |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,813 (GRCm39) |
Y512H |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 41,071,650 (GRCm39) |
I98F |
possibly damaging |
Het |
| Got1 |
G |
A |
19: 43,493,036 (GRCm39) |
T295I |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,844,010 (GRCm39) |
E3538G |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,367,009 (GRCm39) |
A2V |
probably damaging |
Het |
| Lynx1 |
G |
T |
15: 74,623,462 (GRCm39) |
Y28* |
probably null |
Het |
| Mast1 |
T |
C |
8: 85,652,136 (GRCm39) |
E304G |
probably damaging |
Het |
| Nipa1 |
G |
A |
7: 55,629,205 (GRCm39) |
Q303* |
probably null |
Het |
| Nomo1 |
G |
A |
7: 45,712,426 (GRCm39) |
R657H |
possibly damaging |
Het |
| Or51b4 |
C |
T |
7: 103,530,541 (GRCm39) |
R303H |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 37,108,628 (GRCm39) |
L551Q |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,525,930 (GRCm39) |
Y267H |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,168 (GRCm39) |
D223G |
probably damaging |
Het |
| Prph |
G |
A |
15: 98,953,281 (GRCm39) |
G65D |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 106,639,464 (GRCm39) |
L48P |
probably benign |
Het |
| Ptdss1 |
C |
A |
13: 67,093,365 (GRCm39) |
N68K |
probably damaging |
Het |
| Rexo5 |
G |
A |
7: 119,433,526 (GRCm39) |
G495R |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,723,448 (GRCm39) |
A4204S |
possibly damaging |
Het |
| Serpinb9 |
G |
A |
13: 33,199,659 (GRCm39) |
S318N |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,586,638 (GRCm39) |
R383H |
probably benign |
Het |
| Trim26 |
A |
G |
17: 37,162,016 (GRCm39) |
H145R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,695,286 (GRCm39) |
Y286* |
probably null |
Het |
| Vmn1r181 |
A |
G |
7: 23,683,787 (GRCm39) |
N84S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,873,689 (GRCm39) |
Q207K |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,351,053 (GRCm39) |
T427I |
probably benign |
Het |
|
| Other mutations in Kcnmb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01506:Kcnmb4
|
APN |
10 |
116,309,251 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02016:Kcnmb4
|
APN |
10 |
116,282,367 (GRCm39) |
splice site |
probably benign |
|
|
R1499:Kcnmb4
|
UTSW |
10 |
116,309,203 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4355:Kcnmb4
|
UTSW |
10 |
116,309,189 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4361:Kcnmb4
|
UTSW |
10 |
116,309,410 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5058:Kcnmb4
|
UTSW |
10 |
116,299,833 (GRCm39) |
intron |
probably benign |
|
|
R5074:Kcnmb4
|
UTSW |
10 |
116,309,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6562:Kcnmb4
|
UTSW |
10 |
116,309,089 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6883:Kcnmb4
|
UTSW |
10 |
116,309,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Kcnmb4
|
UTSW |
10 |
116,309,164 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7486:Kcnmb4
|
UTSW |
10 |
116,254,180 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8284:Kcnmb4
|
UTSW |
10 |
116,254,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Kcnmb4
|
UTSW |
10 |
116,254,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Kcnmb4
|
UTSW |
10 |
116,282,290 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8856:Kcnmb4
|
UTSW |
10 |
116,282,299 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8955:Kcnmb4
|
UTSW |
10 |
116,309,381 (GRCm39) |
nonsense |
probably null |
|
|
R8991:Kcnmb4
|
UTSW |
10 |
116,282,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9219:Kcnmb4
|
UTSW |
10 |
116,309,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAGGTGCACTCGAACAC -3'
(R):5'- GAGGATTCCGAGAGCAGCTC -3'
Sequencing Primer
(F):5'- AACACCTCGCCGATCTGCTG -3'
(R):5'- AGGAGCAGCCTCGCTCAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation