Incidental Mutation 'IGL02165:Kcnma1'
ID |
282640 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kcnma1
|
Ensembl Gene |
ENSMUSG00000063142 |
Gene Name |
potassium large conductance calcium-activated channel, subfamily M, alpha member 1 |
Synonyms |
MaxiK, BKCa, 5730414M22Rik, BK channel alpha subunit, Slo, Slo1, mSlo1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.856)
|
Stock # |
IGL02165
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
23342356-24055173 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 23387035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 875
(N875K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065788]
[ENSMUST00000074983]
[ENSMUST00000100831]
[ENSMUST00000112423]
[ENSMUST00000145596]
[ENSMUST00000163322]
[ENSMUST00000188285]
[ENSMUST00000172099]
[ENSMUST00000188991]
[ENSMUST00000188210]
[ENSMUST00000177634]
[ENSMUST00000179097]
[ENSMUST00000179836]
[ENSMUST00000190044]
[ENSMUST00000223655]
[ENSMUST00000223727]
[ENSMUST00000223749]
[ENSMUST00000190985]
[ENSMUST00000224468]
[ENSMUST00000224787]
[ENSMUST00000225431]
[ENSMUST00000224232]
[ENSMUST00000225315]
[ENSMUST00000224077]
[ENSMUST00000225471]
[ENSMUST00000225794]
[ENSMUST00000224285]
[ENSMUST00000225556]
[ENSMUST00000224812]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065788
AA Change: N818K
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000065293 Gene: ENSMUSG00000063142 AA Change: N818K
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
AA Change: N877K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000074511 Gene: ENSMUSG00000063142 AA Change: N877K
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
AA Change: N848K
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000098393 Gene: ENSMUSG00000063142 AA Change: N848K
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
AA Change: N764K
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000108042 Gene: ENSMUSG00000063142 AA Change: N764K
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
AA Change: N944K
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163322
AA Change: N815K
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000128553 Gene: ENSMUSG00000063142 AA Change: N815K
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: ENSMUST00000188285
AA Change: N1002K
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000140275 Gene: ENSMUSG00000063142 AA Change: N1002K
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: ENSMUST00000172099
AA Change: N880K
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132204 Gene: ENSMUSG00000063142 AA Change: N880K
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: ENSMUST00000188991
AA Change: N998K
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000140751 Gene: ENSMUSG00000063142 AA Change: N998K
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 |
possibly damaging
Transcript: ENSMUST00000188210
AA Change: N875K
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141069 Gene: ENSMUSG00000063142 AA Change: N875K
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: ENSMUST00000177634
AA Change: N818K
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000136447 Gene: ENSMUSG00000063142 AA Change: N818K
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
AA Change: N815K
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000136568 Gene: ENSMUSG00000063142 AA Change: N815K
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
AA Change: N821K
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137141 Gene: ENSMUSG00000063142 AA Change: N821K
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 |
possibly damaging
Transcript: ENSMUST00000190044
AA Change: N940K
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140033 Gene: ENSMUSG00000063142 AA Change: N940K
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 |
possibly damaging
Transcript: ENSMUST00000223655
AA Change: N937K
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223727
AA Change: N875K
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223749
AA Change: N875K
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190985
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224468
AA Change: N1005K
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224787
AA Change: N824K
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225431
AA Change: N875K
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224232
AA Change: N933K
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224025
AA Change: N893K
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225315
AA Change: N904K
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224077
AA Change: N940K
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225471
AA Change: N904K
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225794
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224285
AA Change: N875K
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225556
AA Change: N881K
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224812
AA Change: N908K
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
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, 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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
A |
19: 31,904,586 (GRCm39) |
M199K |
possibly damaging |
Het |
Abo |
C |
A |
2: 26,733,441 (GRCm39) |
V255L |
probably damaging |
Het |
Alas1 |
A |
T |
9: 106,115,982 (GRCm39) |
M344K |
probably damaging |
Het |
Ap1m1 |
A |
G |
8: 73,003,653 (GRCm39) |
I118V |
probably benign |
Het |
Ap5m1 |
A |
T |
14: 49,316,185 (GRCm39) |
I252F |
possibly damaging |
Het |
Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
Atp13a4 |
T |
C |
16: 29,252,828 (GRCm39) |
E706G |
probably damaging |
Het |
Baz2a |
C |
A |
10: 127,955,218 (GRCm39) |
A775E |
probably benign |
Het |
C3 |
A |
T |
17: 57,532,092 (GRCm39) |
F210I |
probably benign |
Het |
Casq1 |
A |
G |
1: 172,040,948 (GRCm39) |
L280P |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,229,598 (GRCm39) |
F919L |
probably damaging |
Het |
Commd1b |
A |
T |
11: 22,932,072 (GRCm39) |
|
probably benign |
Het |
Dclre1c |
T |
A |
2: 3,451,418 (GRCm39) |
|
probably benign |
Het |
Dsc3 |
T |
G |
18: 20,116,709 (GRCm39) |
M276L |
probably benign |
Het |
Dync2i2 |
T |
C |
2: 29,922,172 (GRCm39) |
T430A |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
Elfn2 |
T |
A |
15: 78,557,618 (GRCm39) |
T310S |
probably benign |
Het |
Ep300 |
A |
G |
15: 81,525,592 (GRCm39) |
K1472R |
probably benign |
Het |
Fbxl2 |
T |
C |
9: 113,847,099 (GRCm39) |
D8G |
probably benign |
Het |
Galnt5 |
T |
A |
2: 57,888,877 (GRCm39) |
M159K |
probably benign |
Het |
Hars2 |
T |
A |
18: 36,916,447 (GRCm39) |
M1K |
probably null |
Het |
Hk1 |
T |
C |
10: 62,117,667 (GRCm39) |
T619A |
probably damaging |
Het |
Ifi44 |
C |
T |
3: 151,455,067 (GRCm39) |
V53M |
probably damaging |
Het |
Ippk |
T |
A |
13: 49,600,011 (GRCm39) |
V339D |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,392,251 (GRCm39) |
V991E |
probably damaging |
Het |
Larp6 |
A |
G |
9: 60,620,595 (GRCm39) |
E36G |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,435,654 (GRCm39) |
D210V |
probably damaging |
Het |
Lrrc4c |
G |
A |
2: 97,459,378 (GRCm39) |
M1I |
probably null |
Het |
Mmp2 |
A |
G |
8: 93,559,847 (GRCm39) |
K270R |
probably null |
Het |
Nexmif |
C |
T |
X: 103,128,360 (GRCm39) |
V1186I |
probably benign |
Het |
Or11g2 |
A |
G |
14: 50,856,468 (GRCm39) |
Y263C |
probably damaging |
Het |
Or1x2 |
A |
T |
11: 50,918,470 (GRCm39) |
I214F |
probably benign |
Het |
Pld2 |
T |
C |
11: 70,446,503 (GRCm39) |
L763P |
probably damaging |
Het |
Pold1 |
A |
T |
7: 44,187,484 (GRCm39) |
F644L |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,104,652 (GRCm39) |
S1377P |
probably damaging |
Het |
Rps18-ps6 |
T |
G |
13: 97,896,648 (GRCm39) |
K150T |
probably benign |
Het |
Rttn |
A |
G |
18: 89,061,165 (GRCm39) |
D1111G |
probably benign |
Het |
Slc27a5 |
A |
G |
7: 12,728,875 (GRCm39) |
V130A |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,908,022 (GRCm39) |
R174G |
probably benign |
Het |
Slitrk6 |
G |
A |
14: 110,989,249 (GRCm39) |
P153S |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,642,511 (GRCm39) |
I388T |
probably benign |
Het |
Star |
A |
T |
8: 26,302,843 (GRCm39) |
T262S |
possibly damaging |
Het |
Strn |
A |
T |
17: 78,995,049 (GRCm39) |
W2R |
probably damaging |
Het |
Tnmd |
T |
C |
X: 132,763,701 (GRCm39) |
S172P |
probably damaging |
Het |
Togaram2 |
A |
G |
17: 72,004,861 (GRCm39) |
K305R |
probably benign |
Het |
Trhde |
C |
A |
10: 114,428,066 (GRCm39) |
W410L |
probably damaging |
Het |
Trim5 |
C |
T |
7: 103,928,566 (GRCm39) |
R125Q |
probably damaging |
Het |
Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
Vmn1r80 |
T |
A |
7: 11,927,379 (GRCm39) |
M163K |
probably benign |
Het |
Wnk4 |
C |
A |
11: 101,166,117 (GRCm39) |
|
probably benign |
Het |
Zfp277 |
T |
A |
12: 40,365,802 (GRCm39) |
I430F |
possibly damaging |
Het |
Zfp566 |
A |
T |
7: 29,777,255 (GRCm39) |
C309S |
probably damaging |
Het |
Zfp740 |
T |
G |
15: 102,121,109 (GRCm39) |
F141V |
possibly damaging |
Het |
Zfp87 |
T |
A |
13: 67,665,989 (GRCm39) |
I158F |
probably damaging |
Het |
Zswim3 |
C |
A |
2: 164,663,035 (GRCm39) |
A505D |
possibly damaging |
Het |
|
Other mutations in Kcnma1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01318:Kcnma1
|
APN |
14 |
23,364,390 (GRCm39) |
splice site |
probably benign |
|
IGL01520:Kcnma1
|
APN |
14 |
23,551,211 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01977:Kcnma1
|
APN |
14 |
23,580,367 (GRCm39) |
splice site |
probably benign |
|
IGL02140:Kcnma1
|
APN |
14 |
23,359,113 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02186:Kcnma1
|
APN |
14 |
23,576,881 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02268:Kcnma1
|
APN |
14 |
23,593,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02353:Kcnma1
|
APN |
14 |
23,641,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02360:Kcnma1
|
APN |
14 |
23,641,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02491:Kcnma1
|
APN |
14 |
23,361,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02552:Kcnma1
|
APN |
14 |
23,436,327 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02625:Kcnma1
|
APN |
14 |
23,413,900 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02677:Kcnma1
|
APN |
14 |
23,513,224 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02706:Kcnma1
|
APN |
14 |
23,359,222 (GRCm39) |
missense |
probably damaging |
1.00 |
G1citation:Kcnma1
|
UTSW |
14 |
24,053,812 (GRCm39) |
splice site |
probably null |
|
PIT4495001:Kcnma1
|
UTSW |
14 |
23,475,665 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4514001:Kcnma1
|
UTSW |
14 |
23,359,103 (GRCm39) |
splice site |
probably null |
|
PIT4576001:Kcnma1
|
UTSW |
14 |
23,359,103 (GRCm39) |
splice site |
probably null |
|
R0071:Kcnma1
|
UTSW |
14 |
23,576,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Kcnma1
|
UTSW |
14 |
23,576,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0115:Kcnma1
|
UTSW |
14 |
23,364,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R0172:Kcnma1
|
UTSW |
14 |
23,853,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R0178:Kcnma1
|
UTSW |
14 |
23,576,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0183:Kcnma1
|
UTSW |
14 |
23,558,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Kcnma1
|
UTSW |
14 |
23,544,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Kcnma1
|
UTSW |
14 |
23,544,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R0328:Kcnma1
|
UTSW |
14 |
23,423,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R0501:Kcnma1
|
UTSW |
14 |
23,361,784 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0631:Kcnma1
|
UTSW |
14 |
23,559,852 (GRCm39) |
splice site |
probably benign |
|
R0668:Kcnma1
|
UTSW |
14 |
23,417,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R0811:Kcnma1
|
UTSW |
14 |
23,350,086 (GRCm39) |
missense |
probably damaging |
0.96 |
R0812:Kcnma1
|
UTSW |
14 |
23,350,086 (GRCm39) |
missense |
probably damaging |
0.96 |
R1080:Kcnma1
|
UTSW |
14 |
23,544,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1419:Kcnma1
|
UTSW |
14 |
23,417,710 (GRCm39) |
missense |
probably damaging |
0.99 |
R1446:Kcnma1
|
UTSW |
14 |
23,361,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R1454:Kcnma1
|
UTSW |
14 |
23,513,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Kcnma1
|
UTSW |
14 |
23,364,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Kcnma1
|
UTSW |
14 |
23,380,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Kcnma1
|
UTSW |
14 |
23,380,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R1828:Kcnma1
|
UTSW |
14 |
23,380,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Kcnma1
|
UTSW |
14 |
23,853,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R2002:Kcnma1
|
UTSW |
14 |
23,387,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R2140:Kcnma1
|
UTSW |
14 |
23,364,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R2278:Kcnma1
|
UTSW |
14 |
23,593,151 (GRCm39) |
nonsense |
probably null |
|
R2866:Kcnma1
|
UTSW |
14 |
23,423,275 (GRCm39) |
missense |
probably benign |
0.16 |
R2867:Kcnma1
|
UTSW |
14 |
23,423,275 (GRCm39) |
missense |
probably benign |
0.16 |
R2867:Kcnma1
|
UTSW |
14 |
23,423,275 (GRCm39) |
missense |
probably benign |
0.16 |
R2900:Kcnma1
|
UTSW |
14 |
23,853,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R3820:Kcnma1
|
UTSW |
14 |
23,350,006 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3821:Kcnma1
|
UTSW |
14 |
23,417,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R3901:Kcnma1
|
UTSW |
14 |
23,555,323 (GRCm39) |
missense |
probably damaging |
0.98 |
R3975:Kcnma1
|
UTSW |
14 |
24,053,815 (GRCm39) |
critical splice donor site |
probably null |
|
R3976:Kcnma1
|
UTSW |
14 |
24,053,815 (GRCm39) |
critical splice donor site |
probably null |
|
R4352:Kcnma1
|
UTSW |
14 |
23,361,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R4517:Kcnma1
|
UTSW |
14 |
23,387,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R4598:Kcnma1
|
UTSW |
14 |
23,853,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R4604:Kcnma1
|
UTSW |
14 |
23,359,106 (GRCm39) |
critical splice donor site |
probably null |
|
R4743:Kcnma1
|
UTSW |
14 |
23,853,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R4754:Kcnma1
|
UTSW |
14 |
23,413,904 (GRCm39) |
missense |
probably damaging |
0.96 |
R4908:Kcnma1
|
UTSW |
14 |
23,359,220 (GRCm39) |
missense |
probably damaging |
0.99 |
R4960:Kcnma1
|
UTSW |
14 |
24,054,186 (GRCm39) |
intron |
probably benign |
|
R5175:Kcnma1
|
UTSW |
14 |
23,386,106 (GRCm39) |
critical splice donor site |
probably null |
|
R5218:Kcnma1
|
UTSW |
14 |
23,513,253 (GRCm39) |
missense |
probably damaging |
0.96 |
R5435:Kcnma1
|
UTSW |
14 |
23,578,472 (GRCm39) |
nonsense |
probably null |
|
R5705:Kcnma1
|
UTSW |
14 |
24,053,839 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5746:Kcnma1
|
UTSW |
14 |
23,544,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R5780:Kcnma1
|
UTSW |
14 |
23,436,419 (GRCm39) |
nonsense |
probably null |
|
R5793:Kcnma1
|
UTSW |
14 |
23,359,103 (GRCm39) |
splice site |
probably null |
|
R6039:Kcnma1
|
UTSW |
14 |
23,359,105 (GRCm39) |
missense |
probably benign |
0.42 |
R6039:Kcnma1
|
UTSW |
14 |
23,359,105 (GRCm39) |
missense |
probably benign |
0.42 |
R6133:Kcnma1
|
UTSW |
14 |
24,053,936 (GRCm39) |
missense |
probably damaging |
0.98 |
R6271:Kcnma1
|
UTSW |
14 |
23,559,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R6490:Kcnma1
|
UTSW |
14 |
23,386,165 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6704:Kcnma1
|
UTSW |
14 |
24,052,882 (GRCm39) |
nonsense |
probably null |
|
R6822:Kcnma1
|
UTSW |
14 |
24,053,812 (GRCm39) |
splice site |
probably null |
|
R6855:Kcnma1
|
UTSW |
14 |
23,417,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R6920:Kcnma1
|
UTSW |
14 |
23,576,602 (GRCm39) |
critical splice donor site |
probably null |
|
R7017:Kcnma1
|
UTSW |
14 |
23,544,711 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7081:Kcnma1
|
UTSW |
14 |
23,350,086 (GRCm39) |
missense |
probably damaging |
0.96 |
R7113:Kcnma1
|
UTSW |
14 |
23,513,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Kcnma1
|
UTSW |
14 |
23,417,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R7172:Kcnma1
|
UTSW |
14 |
23,576,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R7207:Kcnma1
|
UTSW |
14 |
23,359,083 (GRCm39) |
makesense |
probably null |
|
R7308:Kcnma1
|
UTSW |
14 |
23,381,003 (GRCm39) |
missense |
probably damaging |
0.99 |
R7371:Kcnma1
|
UTSW |
14 |
23,544,638 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7404:Kcnma1
|
UTSW |
14 |
24,052,902 (GRCm39) |
missense |
unknown |
|
R7560:Kcnma1
|
UTSW |
14 |
23,580,310 (GRCm39) |
missense |
probably benign |
0.15 |
R7693:Kcnma1
|
UTSW |
14 |
23,417,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R7763:Kcnma1
|
UTSW |
14 |
23,350,074 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7809:Kcnma1
|
UTSW |
14 |
23,423,324 (GRCm39) |
missense |
probably benign |
0.16 |
R7832:Kcnma1
|
UTSW |
14 |
23,440,991 (GRCm39) |
missense |
probably benign |
|
R7884:Kcnma1
|
UTSW |
14 |
23,387,057 (GRCm39) |
missense |
probably benign |
0.01 |
R8013:Kcnma1
|
UTSW |
14 |
23,423,211 (GRCm39) |
missense |
probably benign |
0.31 |
R8014:Kcnma1
|
UTSW |
14 |
23,423,211 (GRCm39) |
missense |
probably benign |
0.31 |
R8066:Kcnma1
|
UTSW |
14 |
23,361,744 (GRCm39) |
missense |
probably benign |
0.00 |
R8097:Kcnma1
|
UTSW |
14 |
23,381,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8154:Kcnma1
|
UTSW |
14 |
23,361,822 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8507:Kcnma1
|
UTSW |
14 |
23,641,706 (GRCm39) |
missense |
probably benign |
0.00 |
R8672:Kcnma1
|
UTSW |
14 |
23,551,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R8677:Kcnma1
|
UTSW |
14 |
23,436,418 (GRCm39) |
missense |
probably benign |
0.36 |
R8725:Kcnma1
|
UTSW |
14 |
23,436,332 (GRCm39) |
missense |
probably benign |
0.00 |
R8727:Kcnma1
|
UTSW |
14 |
23,436,332 (GRCm39) |
missense |
probably benign |
0.00 |
R8827:Kcnma1
|
UTSW |
14 |
23,417,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:Kcnma1
|
UTSW |
14 |
23,417,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Kcnma1
|
UTSW |
14 |
23,513,037 (GRCm39) |
intron |
probably benign |
|
R9056:Kcnma1
|
UTSW |
14 |
23,700,214 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9346:Kcnma1
|
UTSW |
14 |
23,700,233 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9403:Kcnma1
|
UTSW |
14 |
23,593,145 (GRCm39) |
missense |
probably benign |
0.05 |
R9438:Kcnma1
|
UTSW |
14 |
23,417,653 (GRCm39) |
missense |
probably benign |
0.00 |
R9482:Kcnma1
|
UTSW |
14 |
23,441,033 (GRCm39) |
missense |
probably benign |
|
R9511:Kcnma1
|
UTSW |
14 |
23,361,793 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9649:Kcnma1
|
UTSW |
14 |
23,501,666 (GRCm39) |
critical splice donor site |
probably null |
|
R9663:Kcnma1
|
UTSW |
14 |
24,053,897 (GRCm39) |
missense |
probably benign |
0.15 |
R9673:Kcnma1
|
UTSW |
14 |
23,558,123 (GRCm39) |
missense |
probably benign |
0.01 |
RF001:Kcnma1
|
UTSW |
14 |
23,361,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |