Incidental Mutation 'R6920:Kcnma1'
ID |
539602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnma1
|
Ensembl Gene |
ENSMUSG00000063142 |
Gene Name |
potassium large conductance calcium-activated channel, subfamily M, alpha member 1 |
Synonyms |
mSlo1, MaxiK, Slo1, 5730414M22Rik, BK channel alpha subunit, BKCa, Slo |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.790)
|
Stock # |
R6920 (G1)
|
Quality Score |
200.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
23289431-24014491 bp(-) (GRCm38) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 23526534 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065788]
[ENSMUST00000074983]
[ENSMUST00000100831]
[ENSMUST00000112423]
[ENSMUST00000145596]
[ENSMUST00000163322]
[ENSMUST00000172099]
[ENSMUST00000177634]
[ENSMUST00000179097]
[ENSMUST00000179836]
[ENSMUST00000188210]
[ENSMUST00000188285]
[ENSMUST00000188991]
[ENSMUST00000190044]
[ENSMUST00000190985]
[ENSMUST00000212576]
[ENSMUST00000223655]
[ENSMUST00000223727]
[ENSMUST00000223749]
[ENSMUST00000224077]
[ENSMUST00000224232]
[ENSMUST00000224285]
[ENSMUST00000224468]
[ENSMUST00000224787]
[ENSMUST00000224812]
[ENSMUST00000225315]
[ENSMUST00000225431]
[ENSMUST00000225471]
[ENSMUST00000225556]
[ENSMUST00000225794]
[ENSMUST00000226051]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065788
|
SMART Domains |
Protein: ENSMUSP00000065293 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
91 |
262 |
2.2e-18 |
PFAM |
Pfam:Ion_trans_2
|
180 |
268 |
5.7e-16 |
PFAM |
Pfam:TrkA_N
|
314 |
413 |
7.5e-7 |
PFAM |
Pfam:BK_channel_a
|
411 |
509 |
6.4e-31 |
PFAM |
low complexity region
|
835 |
843 |
N/A |
INTRINSIC |
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
low complexity region
|
1005 |
1031 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074983
|
SMART Domains |
Protein: ENSMUSP00000074511 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
91 |
262 |
2.2e-18 |
PFAM |
Pfam:Ion_trans_2
|
180 |
268 |
5.7e-16 |
PFAM |
Pfam:TrkA_N
|
314 |
413 |
7.5e-7 |
PFAM |
Pfam:BK_channel_a
|
411 |
509 |
6.4e-31 |
PFAM |
low complexity region
|
894 |
902 |
N/A |
INTRINSIC |
low complexity region
|
950 |
961 |
N/A |
INTRINSIC |
low complexity region
|
1064 |
1090 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100831
|
SMART Domains |
Protein: ENSMUSP00000098393 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
91 |
262 |
2.1e-18 |
PFAM |
Pfam:Ion_trans_2
|
180 |
268 |
5.5e-16 |
PFAM |
Pfam:TrkA_N
|
314 |
413 |
7.3e-7 |
PFAM |
Pfam:BK_channel_a
|
411 |
509 |
6.2e-31 |
PFAM |
low complexity region
|
865 |
873 |
N/A |
INTRINSIC |
low complexity region
|
921 |
932 |
N/A |
INTRINSIC |
low complexity region
|
1035 |
1061 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112423
|
SMART Domains |
Protein: ENSMUSP00000108042 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
transmembrane domain
|
2 |
19 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
37 |
208 |
2.1e-18 |
PFAM |
Pfam:Ion_trans_2
|
126 |
214 |
5.3e-16 |
PFAM |
Pfam:TrkA_N
|
260 |
359 |
7e-7 |
PFAM |
Pfam:BK_channel_a
|
357 |
455 |
6e-31 |
PFAM |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
837 |
848 |
N/A |
INTRINSIC |
low complexity region
|
951 |
977 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145596
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163322
|
SMART Domains |
Protein: ENSMUSP00000128553 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
91 |
262 |
3.2e-18 |
PFAM |
Pfam:Ion_trans_2
|
180 |
268 |
1.1e-15 |
PFAM |
Pfam:TrkA_N
|
314 |
413 |
7e-7 |
PFAM |
Pfam:BK_channel_a
|
411 |
509 |
6e-31 |
PFAM |
low complexity region
|
832 |
840 |
N/A |
INTRINSIC |
low complexity region
|
888 |
899 |
N/A |
INTRINSIC |
low complexity region
|
1002 |
1028 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172099
|
SMART Domains |
Protein: ENSMUSP00000132204 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
91 |
262 |
2.2e-18 |
PFAM |
Pfam:Ion_trans_2
|
180 |
268 |
5.7e-16 |
PFAM |
Pfam:TrkA_N
|
314 |
413 |
7.6e-7 |
PFAM |
Pfam:BK_channel_a
|
411 |
509 |
6.5e-31 |
PFAM |
low complexity region
|
897 |
905 |
N/A |
INTRINSIC |
low complexity region
|
953 |
964 |
N/A |
INTRINSIC |
low complexity region
|
1067 |
1093 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177634
|
SMART Domains |
Protein: ENSMUSP00000136447 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
53 |
272 |
4.9e-19 |
PFAM |
Pfam:Ion_trans_2
|
180 |
267 |
1.2e-15 |
PFAM |
Pfam:BK_channel_a
|
413 |
508 |
1.2e-35 |
PFAM |
low complexity region
|
862 |
870 |
N/A |
INTRINSIC |
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1058 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179097
|
SMART Domains |
Protein: ENSMUSP00000136568 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
91 |
262 |
4.6e-18 |
PFAM |
Pfam:Ion_trans_2
|
180 |
268 |
1e-15 |
PFAM |
Pfam:TrkA_N
|
314 |
413 |
1.1e-7 |
PFAM |
Pfam:BK_channel_a
|
411 |
509 |
3.2e-31 |
PFAM |
low complexity region
|
859 |
867 |
N/A |
INTRINSIC |
low complexity region
|
915 |
926 |
N/A |
INTRINSIC |
low complexity region
|
1029 |
1055 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179836
|
SMART Domains |
Protein: ENSMUSP00000137141 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
91 |
262 |
4.2e-18 |
PFAM |
Pfam:Ion_trans_2
|
180 |
268 |
9.5e-16 |
PFAM |
Pfam:BK_channel_a
|
389 |
457 |
2.4e-15 |
PFAM |
low complexity region
|
838 |
846 |
N/A |
INTRINSIC |
low complexity region
|
894 |
905 |
N/A |
INTRINSIC |
low complexity region
|
1008 |
1034 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188210
|
SMART Domains |
Protein: ENSMUSP00000141069 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
216 |
387 |
1.3e-18 |
PFAM |
Pfam:Ion_trans_2
|
305 |
393 |
5.2e-16 |
PFAM |
Pfam:TrkA_N
|
439 |
538 |
7.8e-7 |
PFAM |
Pfam:BK_channel_a
|
536 |
634 |
5e-31 |
PFAM |
low complexity region
|
988 |
996 |
N/A |
INTRINSIC |
low complexity region
|
1044 |
1055 |
N/A |
INTRINSIC |
low complexity region
|
1158 |
1184 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188285
|
SMART Domains |
Protein: ENSMUSP00000140275 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
216 |
387 |
1.3e-18 |
PFAM |
Pfam:Ion_trans_2
|
305 |
393 |
5.4e-16 |
PFAM |
Pfam:TrkA_N
|
439 |
538 |
8e-7 |
PFAM |
Pfam:BK_channel_a
|
536 |
634 |
5.2e-31 |
PFAM |
low complexity region
|
1019 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1075 |
1086 |
N/A |
INTRINSIC |
low complexity region
|
1189 |
1215 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188991
|
SMART Domains |
Protein: ENSMUSP00000140751 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
216 |
387 |
3.3e-18 |
PFAM |
Pfam:Ion_trans_2
|
305 |
393 |
1.1e-15 |
PFAM |
Pfam:TrkA_N
|
439 |
538 |
3.7e-7 |
PFAM |
Pfam:BK_channel_a
|
536 |
634 |
3.4e-31 |
PFAM |
low complexity region
|
1015 |
1023 |
N/A |
INTRINSIC |
low complexity region
|
1071 |
1082 |
N/A |
INTRINSIC |
low complexity region
|
1185 |
1211 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190044
|
SMART Domains |
Protein: ENSMUSP00000140033 Gene: ENSMUSG00000063142
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
216 |
387 |
1.3e-18 |
PFAM |
Pfam:Ion_trans_2
|
305 |
393 |
5.1e-16 |
PFAM |
Pfam:TrkA_N
|
439 |
538 |
7.5e-7 |
PFAM |
Pfam:BK_channel_a
|
536 |
634 |
4.9e-31 |
PFAM |
low complexity region
|
957 |
965 |
N/A |
INTRINSIC |
low complexity region
|
1013 |
1024 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212576
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223655
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223727
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223749
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224025
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224077
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224232
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224285
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224468
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224787
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224812
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225315
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225431
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225471
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225556
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225794
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226051
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
Validation Efficiency |
100% (65/65) |
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, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous inactivation of this gene leads to cerebellar ataxia, Purkinje cell dysfunction, uneven gait patterns, bladder hyperactivity, urinary incontinence, abnormal colonic K+ secretion, and hearing impairment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 138,068,050 |
Y1000F |
probably damaging |
Het |
1700018B08Rik |
A |
G |
8: 121,535,421 |
|
probably null |
Het |
Aadat |
T |
C |
8: 60,529,433 |
F245L |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,575,658 |
L1575W |
probably damaging |
Het |
Anks4b |
A |
T |
7: 120,183,008 |
T421S |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,825,349 |
I155N |
probably damaging |
Het |
Arnt |
T |
C |
3: 95,490,621 |
F572L |
probably damaging |
Het |
Brip1 |
G |
A |
11: 86,148,536 |
Q391* |
probably null |
Het |
Brpf3 |
C |
A |
17: 28,823,996 |
H1004N |
probably benign |
Het |
Cand2 |
T |
A |
6: 115,791,289 |
V465D |
possibly damaging |
Het |
Card10 |
G |
T |
15: 78,802,409 |
Y69* |
probably null |
Het |
Catsperd |
A |
T |
17: 56,655,175 |
K450* |
probably null |
Het |
Ccdc137 |
T |
C |
11: 120,460,183 |
L137P |
probably damaging |
Het |
Cic |
T |
C |
7: 25,290,682 |
S1905P |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,644,205 |
G2971S |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,472,212 |
Y183H |
probably damaging |
Het |
Drosha |
T |
C |
15: 12,834,310 |
Y167H |
unknown |
Het |
E330034G19Rik |
A |
G |
14: 24,308,242 |
K214R |
unknown |
Het |
Fam180a |
T |
G |
6: 35,313,830 |
I73L |
possibly damaging |
Het |
Fbxo28 |
G |
T |
1: 182,341,421 |
H51N |
probably benign |
Het |
Gm12728 |
T |
G |
4: 105,790,336 |
|
probably null |
Het |
Gm973 |
T |
C |
1: 59,552,461 |
C335R |
possibly damaging |
Het |
Gpx8 |
A |
G |
13: 113,043,236 |
V177A |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,412,361 |
|
probably null |
Het |
Htt |
T |
G |
5: 34,877,100 |
Y1972D |
probably null |
Het |
Igkv6-14 |
T |
C |
6: 70,435,132 |
Y56C |
possibly damaging |
Het |
Klc1 |
T |
C |
12: 111,787,585 |
S105P |
probably damaging |
Het |
Klhl20 |
T |
C |
1: 161,093,696 |
D63G |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,908,689 |
D469G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 37,060,095 |
V242L |
probably damaging |
Het |
Mboat4 |
G |
A |
8: 34,124,711 |
R434H |
probably benign |
Het |
Mttp |
T |
C |
3: 138,115,282 |
K270E |
possibly damaging |
Het |
Muc5ac |
G |
A |
7: 141,793,298 |
C337Y |
possibly damaging |
Het |
Nars |
A |
G |
18: 64,501,400 |
V484A |
probably damaging |
Het |
Noxa1 |
G |
T |
2: 25,091,832 |
|
probably null |
Het |
Olfr297 |
A |
G |
7: 86,527,314 |
T186A |
probably benign |
Het |
Olfr830 |
T |
A |
9: 18,875,525 |
L63H |
probably damaging |
Het |
Osbpl7 |
G |
A |
11: 97,050,758 |
G36S |
probably damaging |
Het |
P4htm |
C |
T |
9: 108,583,613 |
G220D |
probably benign |
Het |
Pcdhga7 |
A |
G |
18: 37,715,146 |
I69V |
probably benign |
Het |
Pla2g4e |
C |
T |
2: 120,185,314 |
E250K |
possibly damaging |
Het |
Plcd4 |
A |
G |
1: 74,565,835 |
|
probably benign |
Het |
Ppfia3 |
C |
A |
7: 45,358,807 |
G213V |
possibly damaging |
Het |
Ppp1r1a |
A |
G |
15: 103,533,086 |
S67P |
probably damaging |
Het |
Prss43 |
T |
C |
9: 110,828,612 |
F193S |
probably benign |
Het |
Rfx1 |
A |
G |
8: 84,095,488 |
Y872C |
probably damaging |
Het |
Rhot1 |
T |
A |
11: 80,242,095 |
N218K |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,030,393 |
F1028L |
probably damaging |
Het |
Siglec1 |
G |
A |
2: 131,078,077 |
Q845* |
probably null |
Het |
Slc38a9 |
C |
T |
13: 112,701,526 |
T275I |
possibly damaging |
Het |
Slc39a4 |
A |
T |
15: 76,613,270 |
S481T |
probably damaging |
Het |
Ssr1 |
A |
T |
13: 37,986,022 |
N191K |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,895,550 |
S2258C |
probably damaging |
Het |
Tm7sf3 |
T |
G |
6: 146,606,147 |
R472S |
possibly damaging |
Het |
Tmprss11a |
G |
A |
5: 86,428,635 |
T119M |
probably benign |
Het |
Traip |
C |
T |
9: 107,961,041 |
R142* |
probably null |
Het |
Utrn |
T |
C |
10: 12,750,470 |
N100D |
probably damaging |
Het |
Vmn1r74 |
T |
C |
7: 11,847,648 |
S292P |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,623,900 |
I641F |
probably damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,849,046 |
Y119F |
possibly damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,065,248 |
N110S |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,664,693 |
T928A |
probably benign |
Het |
Zfp608 |
T |
A |
18: 54,988,265 |
K83N |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,173,168 |
H737R |
probably benign |
Het |
Zswim4 |
T |
C |
8: 84,214,085 |
N795S |
probably benign |
Het |
|
Other mutations in Kcnma1 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACACTGTAAATGGTCACAAGAC -3'
(R):5'- TATAGCGCGGTTAGTGGAAG -3'
Sequencing Primer
(F):5'- GTCACAAGACCTCAAGATGGTC -3'
(R):5'- CCAAGAGGTTTTTGTGGCCTC -3'
|
Posted On |
2018-11-06 |