Incidental Mutation 'R4604:Kcnma1'
| ID |
345921 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
041816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.856)
|
| Stock # |
R4604 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
23342356-24055173 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 23359106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065788]
[ENSMUST00000074983]
[ENSMUST00000100831]
[ENSMUST00000112423]
[ENSMUST00000145596]
[ENSMUST00000163322]
[ENSMUST00000172099]
[ENSMUST00000177634]
[ENSMUST00000179097]
[ENSMUST00000179836]
[ENSMUST00000188210]
[ENSMUST00000188285]
[ENSMUST00000188991]
[ENSMUST00000190044]
[ENSMUST00000190985]
[ENSMUST00000224077]
[ENSMUST00000223749]
[ENSMUST00000223655]
[ENSMUST00000224232]
[ENSMUST00000223727]
[ENSMUST00000225471]
[ENSMUST00000224787]
[ENSMUST00000225556]
[ENSMUST00000224468]
[ENSMUST00000225431]
[ENSMUST00000224285]
[ENSMUST00000225315]
[ENSMUST00000225794]
[ENSMUST00000224812]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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
AA Change: Y1080H
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098393
Gene: ENSMUSG00000063142
AA Change: Y1080H
| 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 null
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 null
Transcript: ENSMUST00000145596
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163322
AA Change: Y1047H
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128553
Gene: ENSMUSG00000063142
AA Change: Y1047H
| 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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000224077
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223749
AA Change: Y1107H
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223655
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224025
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224232
AA Change: Y1165H
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225471
AA Change: Y1136H
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224787
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225556
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224468
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225431
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224285
AA Change: Y1107H
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224812
AA Change: Y1140H
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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, 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
C |
T |
2: 156,699,074 (GRCm39) |
|
probably benign |
Het |
| Abcb6 |
G |
A |
1: 75,156,521 (GRCm39) |
T81I |
probably benign |
Het |
| Acp6 |
A |
G |
3: 97,083,075 (GRCm39) |
K362R |
probably benign |
Het |
| Adam26a |
A |
G |
8: 44,023,088 (GRCm39) |
M134T |
probably benign |
Het |
| Ankrd27 |
C |
T |
7: 35,327,915 (GRCm39) |
P812S |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
G |
A |
7: 126,047,795 (GRCm39) |
R672C |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,919,406 (GRCm39) |
W371C |
probably damaging |
Het |
| B3gnt2 |
T |
TTCACAAA |
11: 22,786,426 (GRCm39) |
|
probably null |
Het |
| Btnl6 |
T |
A |
17: 34,727,435 (GRCm39) |
D365V |
possibly damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,915,928 (GRCm39) |
L228Q |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,936,759 (GRCm39) |
H718R |
probably benign |
Het |
| Cdh18 |
A |
G |
15: 23,474,454 (GRCm39) |
K775E |
probably benign |
Het |
| Cdh23 |
T |
G |
10: 60,173,445 (GRCm39) |
N1679T |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,948,993 (GRCm39) |
D271E |
possibly damaging |
Het |
| Cfap70 |
G |
T |
14: 20,493,729 (GRCm39) |
T124K |
probably benign |
Het |
| Ckap5 |
A |
T |
2: 91,408,476 (GRCm39) |
E890D |
probably benign |
Het |
| Col22a1 |
G |
T |
15: 71,824,188 (GRCm39) |
P569T |
probably benign |
Het |
| Colq |
A |
T |
14: 31,267,060 (GRCm39) |
L150Q |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,664,278 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,868,211 (GRCm39) |
S770T |
possibly damaging |
Het |
| Cul9 |
C |
A |
17: 46,841,072 (GRCm39) |
V733L |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,019,830 (GRCm39) |
D256G |
possibly damaging |
Het |
| Dclk3 |
A |
T |
9: 111,298,253 (GRCm39) |
D599V |
probably damaging |
Het |
| Defb26 |
T |
A |
2: 152,350,104 (GRCm39) |
I59F |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,106,643 (GRCm39) |
V1646A |
possibly damaging |
Het |
| Dnm2 |
T |
C |
9: 21,415,960 (GRCm39) |
|
probably null |
Het |
| Dock6 |
A |
G |
9: 21,713,836 (GRCm39) |
L1867P |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,905,871 (GRCm39) |
T93K |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,140,995 (GRCm39) |
H1344R |
probably benign |
Het |
| Enam |
A |
C |
5: 88,652,142 (GRCm39) |
Q1217P |
possibly damaging |
Het |
| Fbf1 |
A |
T |
11: 116,049,748 (GRCm39) |
D91E |
possibly damaging |
Het |
| Fbxo7 |
T |
G |
10: 85,882,666 (GRCm39) |
W393G |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,953,420 (GRCm39) |
T599A |
probably damaging |
Het |
| Gfy |
T |
A |
7: 44,826,612 (GRCm39) |
I409F |
possibly damaging |
Het |
| Gm19345 |
T |
A |
7: 19,591,433 (GRCm39) |
|
probably null |
Het |
| Gm4787 |
A |
G |
12: 81,425,987 (GRCm39) |
M57T |
probably benign |
Het |
| Gper1 |
A |
G |
5: 139,412,480 (GRCm39) |
E275G |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,435,882 (GRCm39) |
E803G |
probably damaging |
Het |
| Gstm3 |
G |
A |
3: 107,875,513 (GRCm39) |
P39L |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,904,767 (GRCm39) |
V142D |
probably damaging |
Het |
| Hcn3 |
A |
T |
3: 89,057,747 (GRCm39) |
I383N |
probably damaging |
Het |
| Hdac10 |
C |
A |
15: 89,009,600 (GRCm39) |
|
probably null |
Het |
| Hipk3 |
A |
C |
2: 104,269,674 (GRCm39) |
M505R |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,313,225 (GRCm39) |
P1822S |
probably benign |
Het |
| Hsd17b13 |
G |
T |
5: 104,104,124 (GRCm39) |
H281N |
unknown |
Het |
| Ilrun |
T |
C |
17: 28,039,289 (GRCm39) |
D7G |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,649,848 (GRCm39) |
I222N |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,334,296 (GRCm39) |
L7F |
possibly damaging |
Het |
| Kcnn3 |
G |
T |
3: 89,427,727 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,328,775 (GRCm39) |
D218A |
probably damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,127 (GRCm39) |
N195Y |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,851,409 (GRCm39) |
N72I |
probably damaging |
Het |
| Mcm4 |
A |
G |
16: 15,447,527 (GRCm39) |
I479T |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,055,764 (GRCm39) |
S80P |
probably benign |
Het |
| Mknk1 |
A |
G |
4: 115,735,224 (GRCm39) |
E364G |
probably damaging |
Het |
| Msh4 |
C |
T |
3: 153,577,920 (GRCm39) |
C458Y |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,712,631 (GRCm39) |
|
probably null |
Het |
| Myo1a |
T |
C |
10: 127,547,007 (GRCm39) |
W356R |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,631,069 (GRCm39) |
V2186A |
probably benign |
Het |
| Nfe2l3 |
T |
C |
6: 51,427,992 (GRCm39) |
S185P |
probably damaging |
Het |
| Nhsl1 |
A |
C |
10: 18,407,158 (GRCm39) |
K1397Q |
probably damaging |
Het |
| Nmbr |
C |
T |
10: 14,645,908 (GRCm39) |
R261W |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,448,365 (GRCm39) |
S137P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,971,031 (GRCm39) |
G2494D |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,013,572 (GRCm39) |
K1092E |
probably damaging |
Het |
| Oosp2 |
A |
C |
19: 11,627,047 (GRCm39) |
I92S |
probably benign |
Het |
| Or5ar1 |
C |
T |
2: 85,671,526 (GRCm39) |
C203Y |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,616 (GRCm39) |
D518G |
probably damaging |
Het |
| Pde11a |
G |
T |
2: 76,168,137 (GRCm39) |
T272K |
possibly damaging |
Het |
| Plekha2 |
T |
A |
8: 25,549,851 (GRCm39) |
Q162L |
probably null |
Het |
| Prkag2 |
T |
A |
5: 25,083,732 (GRCm39) |
I84F |
probably damaging |
Het |
| Prm2 |
G |
T |
16: 10,609,613 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,032,035 (GRCm39) |
C800S |
probably damaging |
Het |
| Prr5l |
A |
T |
2: 101,559,793 (GRCm39) |
C158S |
probably benign |
Het |
| Prrt3 |
C |
A |
6: 113,475,198 (GRCm39) |
C8F |
possibly damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,728 (GRCm39) |
T32A |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,887 (GRCm39) |
V337A |
probably benign |
Het |
| Sall1 |
T |
A |
8: 89,756,969 (GRCm39) |
Q1045L |
probably damaging |
Het |
| Sec22c |
T |
C |
9: 121,524,708 (GRCm39) |
Y25C |
probably damaging |
Het |
| Serpina3i |
A |
T |
12: 104,234,036 (GRCm39) |
T335S |
possibly damaging |
Het |
| Setd1b |
TCCACCACCACCACCACCACCACCA |
TCCACCACCACCACCACCACCA |
5: 123,290,137 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,428,529 (GRCm39) |
I279N |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,727,319 (GRCm39) |
T83I |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,678,658 (GRCm39) |
F222S |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,682,353 (GRCm39) |
T463S |
probably benign |
Het |
| Spsb4 |
C |
A |
9: 96,877,931 (GRCm39) |
A131S |
probably benign |
Het |
| Sting1 |
T |
A |
18: 35,871,743 (GRCm39) |
I170F |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,014,484 (GRCm39) |
E3225G |
probably damaging |
Het |
| Tchp |
G |
A |
5: 114,857,634 (GRCm39) |
|
probably null |
Het |
| Tekt4 |
T |
A |
17: 25,690,749 (GRCm39) |
D18E |
probably benign |
Het |
| Timm50 |
A |
G |
7: 28,010,443 (GRCm39) |
V37A |
probably benign |
Het |
| Tlx2 |
A |
C |
6: 83,045,741 (GRCm39) |
*285G |
probably null |
Het |
| Tshz1 |
C |
A |
18: 84,031,499 (GRCm39) |
D970Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,700,805 (GRCm39) |
V50E |
probably damaging |
Het |
| Txndc17 |
T |
A |
11: 72,100,274 (GRCm39) |
S113T |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,019,305 (GRCm39) |
Y1039C |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,698 (GRCm39) |
S131P |
probably benign |
Het |
| Uncx |
A |
T |
5: 139,529,837 (GRCm39) |
H30L |
possibly damaging |
Het |
| Usp25 |
T |
A |
16: 76,912,303 (GRCm39) |
D1007E |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,701,038 (GRCm39) |
V1083A |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,047,479 (GRCm39) |
H765Q |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,330 (GRCm39) |
D37G |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,712,924 (GRCm39) |
T686A |
possibly damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,124 (GRCm39) |
R412C |
probably damaging |
Het |
| Znrf2 |
T |
A |
6: 54,855,425 (GRCm39) |
C71* |
probably null |
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 |
|
IGL02165:Kcnma1
|
APN |
14 |
23,387,035 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTATTTGCTGTTGCGCTCAAG -3'
(R):5'- GCCTGATGCAGTTTGACCAC -3'
Sequencing Primer
(F):5'- GCACACTATCATACATATGCAAAATG -3'
(R):5'- TGCAGTTTGACCACAACGCTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation