Incidental Mutation 'R2140:Kcnma1'
| ID |
236159 |
| 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 |
040143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.856)
|
| Stock # |
R2140 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
23342356-24055173 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23364288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 988
(L988R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065788]
[ENSMUST00000074983]
[ENSMUST00000100831]
[ENSMUST00000112423]
[ENSMUST00000145596]
[ENSMUST00000163322]
[ENSMUST00000172099]
[ENSMUST00000177634]
[ENSMUST00000188285]
[ENSMUST00000179836]
[ENSMUST00000188991]
[ENSMUST00000188210]
[ENSMUST00000190044]
[ENSMUST00000179097]
[ENSMUST00000223655]
[ENSMUST00000224232]
[ENSMUST00000223727]
[ENSMUST00000223749]
[ENSMUST00000224077]
[ENSMUST00000190985]
[ENSMUST00000225556]
[ENSMUST00000224285]
[ENSMUST00000225431]
[ENSMUST00000225315]
[ENSMUST00000224468]
[ENSMUST00000224812]
[ENSMUST00000224787]
[ENSMUST00000225471]
[ENSMUST00000225794]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065788
AA Change: L902R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065293
Gene: ENSMUSG00000063142
AA Change: L902R
| 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: L961R
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074511
Gene: ENSMUSG00000063142
AA Change: L961R
| 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 damaging
Transcript: ENSMUST00000100831
AA Change: L932R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098393
Gene: ENSMUSG00000063142
AA Change: L932R
| 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 damaging
Transcript: ENSMUST00000112423
AA Change: L848R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108042
Gene: ENSMUSG00000063142
AA Change: L848R
| 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 damaging
Transcript: ENSMUST00000145596
AA Change: L1055R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163322
AA Change: L899R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128553
Gene: ENSMUSG00000063142
AA Change: L899R
| 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 |
possibly damaging
Transcript: ENSMUST00000172099
AA Change: L964R
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132204
Gene: ENSMUSG00000063142
AA Change: L964R
| 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 damaging
Transcript: ENSMUST00000177634
AA Change: L929R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136447
Gene: ENSMUSG00000063142
AA Change: L929R
| 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 |
possibly damaging
Transcript: ENSMUST00000188285
AA Change: L1086R
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140275
Gene: ENSMUSG00000063142
AA Change: L1086R
| 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 |
possibly damaging
Transcript: ENSMUST00000179836
AA Change: L905R
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137141
Gene: ENSMUSG00000063142
AA Change: L905R
| 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: ENSMUST00000188991
AA Change: L1082R
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140751
Gene: ENSMUSG00000063142
AA Change: L1082R
| 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 damaging
Transcript: ENSMUST00000188210
AA Change: L986R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141069
Gene: ENSMUSG00000063142
AA Change: L986R
| 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 damaging
Transcript: ENSMUST00000190044
AA Change: L1024R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140033
Gene: ENSMUSG00000063142
AA Change: L1024R
| 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 damaging
Transcript: ENSMUST00000179097
AA Change: L926R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136568
Gene: ENSMUSG00000063142
AA Change: L926R
| 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 |
possibly damaging
Transcript: ENSMUST00000223655
AA Change: L1021R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224232
AA Change: L1017R
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223727
AA Change: L959R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224025
AA Change: L977R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223749
AA Change: L959R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224077
AA Change: L1024R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190985
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225556
AA Change: L965R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224285
AA Change: L959R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225431
AA Change: L959R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225315
AA Change: L988R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224468
AA Change: L1089R
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224812
AA Change: L992R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224787
AA Change: L908R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225471
AA Change: L988R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225794
|
| Meta Mutation Damage Score |
0.8169 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (96/96) |
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
T |
C |
14: 4,348,902 (GRCm38) |
I21T |
probably damaging |
Het |
| Adgrf1 |
A |
C |
17: 43,611,693 (GRCm39) |
E186D |
probably damaging |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,030,695 (GRCm39) |
E202G |
probably damaging |
Het |
| Agfg2 |
T |
A |
5: 137,665,378 (GRCm39) |
R126W |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,263,777 (GRCm39) |
V77I |
probably benign |
Het |
| Alppl2 |
A |
G |
1: 87,015,419 (GRCm39) |
S381P |
probably benign |
Het |
| Aqp2 |
A |
G |
15: 99,477,247 (GRCm39) |
T72A |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,779,302 (GRCm39) |
C1123R |
probably damaging |
Het |
| AU016765 |
T |
A |
17: 64,826,995 (GRCm39) |
|
noncoding transcript |
Het |
| Bscl2 |
T |
C |
19: 8,822,684 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
A |
T |
16: 44,947,809 (GRCm39) |
Y929F |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,764,389 (GRCm39) |
D1341G |
probably damaging |
Het |
| Cfap300 |
T |
C |
9: 8,022,478 (GRCm39) |
D248G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,142,781 (GRCm39) |
S18T |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,108,594 (GRCm39) |
F145S |
possibly damaging |
Het |
| Cnksr1 |
A |
G |
4: 133,956,939 (GRCm39) |
Y488H |
probably damaging |
Het |
| Cntrl |
CAGAG |
CAG |
2: 35,012,818 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
C |
1: 139,164,750 (GRCm39) |
I1125V |
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,919,716 (GRCm39) |
V20D |
possibly damaging |
Het |
| Dars1 |
T |
A |
1: 128,299,899 (GRCm39) |
M362L |
probably benign |
Het |
| Dck |
T |
C |
5: 88,920,582 (GRCm39) |
C101R |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,972,545 (GRCm39) |
T2880A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,307,830 (GRCm39) |
M3048K |
probably damaging |
Het |
| Eef1a2 |
C |
T |
2: 180,790,535 (GRCm39) |
E374K |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,763,832 (GRCm39) |
|
probably benign |
Het |
| Esco1 |
A |
G |
18: 10,574,873 (GRCm39) |
|
probably null |
Het |
| Exoc8 |
C |
T |
8: 125,624,154 (GRCm39) |
R71Q |
possibly damaging |
Het |
| Far1 |
G |
A |
7: 113,165,667 (GRCm39) |
V445M |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,185,730 (GRCm39) |
C1648F |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,425,393 (GRCm39) |
K1189R |
probably benign |
Het |
| Foxl2 |
C |
A |
9: 98,838,540 (GRCm39) |
P276H |
unknown |
Het |
| Fpr3 |
T |
A |
17: 18,190,879 (GRCm39) |
V50E |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,262,431 (GRCm39) |
R794S |
probably damaging |
Het |
| Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
| Glyatl3 |
T |
C |
17: 41,221,975 (GRCm39) |
D93G |
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,425,336 (GRCm39) |
I274T |
probably benign |
Het |
| Gucy1a1 |
C |
T |
3: 82,026,193 (GRCm39) |
|
probably null |
Het |
| Hook1 |
GATGAATGA |
GATGA |
4: 95,901,549 (GRCm39) |
503 |
probably null |
Het |
| Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
| Ints13 |
A |
G |
6: 146,477,929 (GRCm39) |
S7P |
probably damaging |
Het |
| Kat5 |
T |
A |
19: 5,655,713 (GRCm39) |
|
probably null |
Het |
| Kcnq3 |
C |
A |
15: 65,877,827 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,392,231 (GRCm39) |
E273G |
possibly damaging |
Het |
| Krt82 |
T |
A |
15: 101,453,591 (GRCm39) |
Q265L |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,930,690 (GRCm39) |
|
probably null |
Het |
| Laptm4b |
G |
T |
15: 34,238,478 (GRCm39) |
M3I |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,084,433 (GRCm39) |
Y156C |
probably damaging |
Het |
| Lrrc58 |
G |
A |
16: 37,701,771 (GRCm39) |
E350K |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,980,498 (GRCm39) |
D227E |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,248,895 (GRCm39) |
C7210Y |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,982,854 (GRCm39) |
I1363T |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,883,334 (GRCm39) |
V295A |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,297,321 (GRCm39) |
I2571T |
possibly damaging |
Het |
| Mtrr |
C |
T |
13: 68,717,059 (GRCm39) |
A385T |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,462,043 (GRCm39) |
Y313C |
probably damaging |
Het |
| Myot |
A |
T |
18: 44,487,192 (GRCm39) |
H343L |
possibly damaging |
Het |
| Myt1 |
C |
A |
2: 181,467,772 (GRCm39) |
Q1069K |
probably damaging |
Het |
| Nid1 |
T |
A |
13: 13,674,253 (GRCm39) |
D877E |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,796,394 (GRCm39) |
V159A |
probably damaging |
Het |
| Nmbr |
C |
A |
10: 14,646,186 (GRCm39) |
Y353* |
probably null |
Het |
| Nos1ap |
T |
A |
1: 170,156,735 (GRCm39) |
D241V |
probably damaging |
Het |
| Nostrin |
A |
C |
2: 68,996,347 (GRCm39) |
Y209S |
probably damaging |
Het |
| Or14j4 |
T |
G |
17: 37,921,362 (GRCm39) |
E93D |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,707 (GRCm39) |
M34K |
probably damaging |
Het |
| Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
| Or5d40 |
A |
T |
2: 88,015,439 (GRCm39) |
S73C |
probably benign |
Het |
| Or8h9 |
A |
T |
2: 86,789,625 (GRCm39) |
M59K |
probably damaging |
Het |
| Or8s2 |
G |
A |
15: 98,276,277 (GRCm39) |
T238I |
possibly damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,338 (GRCm39) |
V1138E |
probably damaging |
Het |
| Pglyrp3 |
T |
G |
3: 91,933,874 (GRCm39) |
V173G |
probably benign |
Het |
| Plec |
T |
C |
15: 76,067,374 (GRCm39) |
T1331A |
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,040,765 (GRCm39) |
D1787G |
probably benign |
Het |
| Pms1 |
T |
A |
1: 53,321,147 (GRCm39) |
I29F |
probably damaging |
Het |
| Ptprt |
G |
A |
2: 161,653,908 (GRCm39) |
T574I |
probably damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,118,430 (GRCm39) |
Y561C |
probably damaging |
Het |
| Rab17 |
A |
G |
1: 90,887,800 (GRCm39) |
F120S |
probably benign |
Het |
| Rab7b |
T |
A |
1: 131,626,157 (GRCm39) |
W62R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,575,493 (GRCm39) |
G4835E |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,705,493 (GRCm39) |
V807A |
probably benign |
Het |
| Septin4 |
A |
T |
11: 87,474,262 (GRCm39) |
Q60L |
probably benign |
Het |
| Slc23a1 |
C |
T |
18: 35,759,487 (GRCm39) |
R26Q |
unknown |
Het |
| Slc7a4 |
C |
A |
16: 17,392,408 (GRCm39) |
R342L |
possibly damaging |
Het |
| Slfn9 |
C |
T |
11: 82,875,481 (GRCm39) |
C367Y |
possibly damaging |
Het |
| Slitrk6 |
T |
G |
14: 110,988,226 (GRCm39) |
T494P |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,201,992 (GRCm39) |
T1462I |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,646,533 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
C |
A |
3: 65,436,673 (GRCm39) |
|
probably benign |
Het |
| Tmem39b |
T |
C |
4: 129,572,481 (GRCm39) |
T374A |
probably benign |
Het |
| Trim5 |
G |
A |
7: 103,925,998 (GRCm39) |
R188* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,204,518 (GRCm39) |
T4810M |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,196 (GRCm39) |
E590D |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,761,355 (GRCm39) |
F650S |
probably benign |
Het |
| Xrcc6 |
T |
A |
15: 81,907,178 (GRCm39) |
F167I |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,111,281 (GRCm39) |
H657L |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGATGCCTAGCTTGTCACC -3'
(R):5'- GACAGGCCAGAATCTTTCATGG -3'
Sequencing Primer
(F):5'- TAGCTTGTCACCATCCAACATAGGTC -3'
(R):5'- GCCAGAATCTTTCATGGGAGATAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation