Incidental Mutation 'R8097:Kcnma1'
| ID |
630262 |
| 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 |
067529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.837)
|
| Stock # |
R8097 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
23342356-24055173 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23381032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1012
(D1012V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065788]
[ENSMUST00000074983]
[ENSMUST00000100831]
[ENSMUST00000112423]
[ENSMUST00000145596]
[ENSMUST00000163322]
[ENSMUST00000172099]
[ENSMUST00000188285]
[ENSMUST00000177634]
[ENSMUST00000179097]
[ENSMUST00000179836]
[ENSMUST00000188210]
[ENSMUST00000188991]
[ENSMUST00000190044]
[ENSMUST00000190985]
[ENSMUST00000223655]
[ENSMUST00000223727]
[ENSMUST00000223749]
[ENSMUST00000224077]
[ENSMUST00000224232]
[ENSMUST00000224285]
[ENSMUST00000224468]
[ENSMUST00000224787]
[ENSMUST00000224812]
[ENSMUST00000225315]
[ENSMUST00000225431]
[ENSMUST00000225471]
[ENSMUST00000225556]
[ENSMUST00000225794]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065788
AA Change: D828V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065293
Gene: ENSMUSG00000063142
AA Change: D828V
| 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: D887V
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074511
Gene: ENSMUSG00000063142
AA Change: D887V
| 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: D858V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098393
Gene: ENSMUSG00000063142
AA Change: D858V
| 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: D774V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108042
Gene: ENSMUSG00000063142
AA Change: D774V
| 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: D981V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163322
AA Change: D825V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128553
Gene: ENSMUSG00000063142
AA Change: D825V
| 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 damaging
Transcript: ENSMUST00000172099
AA Change: D890V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132204
Gene: ENSMUSG00000063142
AA Change: D890V
| 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: ENSMUST00000188285
AA Change: D1012V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140275
Gene: ENSMUSG00000063142
AA Change: D1012V
| 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 damaging
Transcript: ENSMUST00000177634
AA Change: D855V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136447
Gene: ENSMUSG00000063142
AA Change: D855V
| 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 damaging
Transcript: ENSMUST00000179097
AA Change: D852V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136568
Gene: ENSMUSG00000063142
AA Change: D852V
| 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 damaging
Transcript: ENSMUST00000179836
AA Change: D831V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137141
Gene: ENSMUSG00000063142
AA Change: D831V
| 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 damaging
Transcript: ENSMUST00000188210
AA Change: D912V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141069
Gene: ENSMUSG00000063142
AA Change: D912V
| 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: ENSMUST00000188991
AA Change: D1008V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140751
Gene: ENSMUSG00000063142
AA Change: D1008V
| 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: ENSMUST00000190044
AA Change: D950V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140033
Gene: ENSMUSG00000063142
AA Change: D950V
| 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 damaging
Transcript: ENSMUST00000223655
AA Change: D947V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223727
AA Change: D885V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223749
AA Change: D885V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224077
AA Change: D950V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224232
AA Change: D943V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224285
AA Change: D885V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224468
AA Change: D1015V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224787
AA Change: D834V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224812
AA Change: D918V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225315
AA Change: D914V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225431
AA Change: D885V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225471
AA Change: D914V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225556
AA Change: D891V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225794
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,805,394 (GRCm39) |
M749I |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,743,711 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
G |
A |
4: 129,901,690 (GRCm39) |
C438Y |
probably damaging |
Het |
| Amn1 |
G |
A |
6: 149,070,853 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,887,286 (GRCm39) |
R319W |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,510,115 (GRCm39) |
E830G |
probably benign |
Het |
| Ccdc71 |
T |
C |
9: 108,340,751 (GRCm39) |
V188A |
probably benign |
Het |
| Ceacam11 |
A |
T |
7: 17,709,455 (GRCm39) |
R218* |
probably null |
Het |
| Col18a1 |
A |
C |
10: 76,948,342 (GRCm39) |
L390R |
unknown |
Het |
| Cps1 |
A |
G |
1: 67,267,429 (GRCm39) |
N1399S |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,847,845 (GRCm39) |
E98G |
probably damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,586,836 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,581 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
G |
A |
4: 96,103,647 (GRCm39) |
T296I |
possibly damaging |
Het |
| Dcc |
C |
T |
18: 71,812,573 (GRCm39) |
G407D |
probably damaging |
Het |
| E330034G19Rik |
T |
C |
14: 24,356,920 (GRCm39) |
L217S |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,862,516 (GRCm39) |
K813E |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Etf1 |
T |
C |
18: 35,064,697 (GRCm39) |
D4G |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,305,505 (GRCm39) |
T290A |
possibly damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,541 (GRCm39) |
D1026G |
probably benign |
Het |
| Flad1 |
A |
T |
3: 89,316,442 (GRCm39) |
L40H |
probably damaging |
Het |
| Fpr3 |
C |
A |
17: 18,191,054 (GRCm39) |
N108K |
probably damaging |
Het |
| Galntl6 |
A |
G |
8: 58,415,407 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
T |
C |
9: 75,922,421 (GRCm39) |
L22P |
probably benign |
Het |
| Iars2 |
C |
T |
1: 185,061,586 (GRCm39) |
|
probably benign |
Het |
| Ifna15 |
A |
T |
4: 88,475,938 (GRCm39) |
L182Q |
probably benign |
Het |
| Kcna6 |
A |
T |
6: 126,715,575 (GRCm39) |
V438E |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,066,660 (GRCm39) |
Q1074* |
probably null |
Het |
| Lhx9 |
T |
C |
1: 138,766,089 (GRCm39) |
Y242C |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,394,925 (GRCm39) |
I167F |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,522,331 (GRCm39) |
T351S |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,775,819 (GRCm39) |
|
probably null |
Het |
| Mlh1 |
C |
A |
9: 111,085,160 (GRCm39) |
|
probably null |
Het |
| Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
G |
7: 49,237,525 (GRCm39) |
D1999G |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,145,945 (GRCm39) |
I1272K |
possibly damaging |
Het |
| Neurl1a |
A |
G |
19: 47,245,958 (GRCm39) |
D530G |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,848,657 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,650 (GRCm39) |
L582Q |
probably damaging |
Het |
| Or1o4 |
A |
T |
17: 37,590,818 (GRCm39) |
Y164* |
probably null |
Het |
| Or4c121 |
A |
T |
2: 89,023,976 (GRCm39) |
I134N |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,363,197 (GRCm39) |
V141A |
possibly damaging |
Het |
| Or8k1 |
A |
T |
2: 86,048,010 (GRCm39) |
F15I |
probably damaging |
Het |
| Pde6c |
G |
T |
19: 38,150,414 (GRCm39) |
E520* |
probably null |
Het |
| Pdzk1 |
C |
T |
3: 96,757,556 (GRCm39) |
T4I |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rap1gap |
G |
T |
4: 137,455,597 (GRCm39) |
V667F |
probably benign |
Het |
| Recql |
A |
T |
6: 142,320,637 (GRCm39) |
I137N |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,960,881 (GRCm39) |
E19G |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,500,615 (GRCm39) |
|
probably null |
Het |
| Six1 |
A |
G |
12: 73,090,524 (GRCm39) |
S214P |
possibly damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,831,734 (GRCm39) |
D1121G |
probably damaging |
Het |
| Slc30a6 |
T |
A |
17: 74,719,693 (GRCm39) |
C218S |
possibly damaging |
Het |
| Spata31e1 |
T |
A |
13: 49,943,676 (GRCm39) |
M1L |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,704,959 (GRCm39) |
D1803G |
possibly damaging |
Het |
| Sult2a3 |
A |
T |
7: 13,816,635 (GRCm39) |
V181E |
possibly damaging |
Het |
| Ubc |
C |
T |
5: 125,466,982 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,596,800 (GRCm39) |
N870S |
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,709,492 (GRCm39) |
I1813T |
probably benign |
Het |
| Wdr11 |
C |
T |
7: 129,209,611 (GRCm39) |
P473L |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,333 (GRCm39) |
I114N |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 83,005,295 (GRCm39) |
S733* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
|
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'- CCATGCACAGTTCAAGTTCCTG -3'
(R):5'- ACTTGATCCCAGTGCTTGCC -3'
Sequencing Primer
(F):5'- AGACAGTCCATGGGTGTGTACC -3'
(R):5'- AGTGCTTGCCAACCCCG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation