Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Kcnma1'

59342

Institutional Source

Beutler Lab

Gene Symbol

Kcnma1

Ensembl Gene

ENSMUSG00000063142

Gene Name

potassium large conductance calcium-activated channel, subfamily M, alpha member 1

Synonyms

mSlo1, MaxiK, Slo1, 5730414M22Rik, BK channel alpha subunit, BKCa, Slo

MMRRC Submission

038478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.790) question?

Stock #

R0240 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

23289431-24014491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23494579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 505 (T505I)

Ref Sequence

ENSEMBL: ENSMUSP00000153083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065788] [ENSMUST00000074983] [ENSMUST00000100831] [ENSMUST00000112423] [ENSMUST00000145596] [ENSMUST00000163322] [ENSMUST00000172099] [ENSMUST00000177634] [ENSMUST00000179097] [ENSMUST00000179836] [ENSMUST00000188210] [ENSMUST00000188285] [ENSMUST00000188991] [ENSMUST00000190044] [ENSMUST00000190985] [ENSMUST00000225315] [ENSMUST00000224232] [ENSMUST00000225471] [ENSMUST00000223749] [ENSMUST00000224787] [ENSMUST00000223655] [ENSMUST00000224812] [ENSMUST00000223727] [ENSMUST00000224285] [ENSMUST00000225431] [ENSMUST00000224077] [ENSMUST00000224468] [ENSMUST00000225794] [ENSMUST00000225556] [ENSMUST00000226051]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065788
AA Change: T445I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065293
Gene: ENSMUSG00000063142
AA Change: T445I

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 damaging
Transcript: ENSMUST00000074983
AA Change: T445I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074511
Gene: ENSMUSG00000063142
AA Change: T445I

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: T445I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098393
Gene: ENSMUSG00000063142
AA Change: T445I

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: T391I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108042
Gene: ENSMUSG00000063142
AA Change: T391I

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: T570I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000163322
AA Change: T445I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128553
Gene: ENSMUSG00000063142
AA Change: T445I

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: T445I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132204
Gene: ENSMUSG00000063142
AA Change: T445I

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: T445I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136447
Gene: ENSMUSG00000063142
AA Change: T445I

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: T445I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136568
Gene: ENSMUSG00000063142
AA Change: T445I

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
transmembrane domain	54	73	N/A	INTRINSIC
Pfam:Ion_trans	91	262	4.6e-18	PFAM
Pfam:Ion_trans_2	180	268	1e-15	PFAM
Pfam:TrkA_N	314	413	1.1e-7	PFAM
Pfam:BK_channel_a	411	509	3.2e-31	PFAM
low complexity region	859	867	N/A	INTRINSIC
low complexity region	915	926	N/A	INTRINSIC
low complexity region	1029	1055	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179836

SMART Domains

Protein: ENSMUSP00000137141
Gene: ENSMUSG00000063142

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
transmembrane domain	54	73	N/A	INTRINSIC
Pfam:Ion_trans	91	262	4.2e-18	PFAM
Pfam:Ion_trans_2	180	268	9.5e-16	PFAM
Pfam:BK_channel_a	389	457	2.4e-15	PFAM
low complexity region	838	846	N/A	INTRINSIC
low complexity region	894	905	N/A	INTRINSIC
low complexity region	1008	1034	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188210
AA Change: T505I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141069
Gene: ENSMUSG00000063142
AA Change: T505I

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: ENSMUST00000188285
AA Change: T570I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140275
Gene: ENSMUSG00000063142
AA Change: T570I

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: ENSMUST00000188991
AA Change: T570I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140751
Gene: ENSMUSG00000063142
AA Change: T570I

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: T570I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140033
Gene: ENSMUSG00000063142
AA Change: T570I

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

unknown
Transcript: ENSMUST00000190985
AA Change: T505I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212542

Predicted Effect

unknown
Transcript: ENSMUST00000224025
AA Change: T520I

Predicted Effect

probably damaging
Transcript: ENSMUST00000225315
AA Change: T505I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224232
AA Change: T505I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225471
AA Change: T505I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223749
AA Change: T505I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224787
AA Change: T451I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223655
AA Change: T505I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224812
AA Change: T505I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223727
AA Change: T505I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224285
AA Change: T505I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225431
AA Change: T505I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224077
AA Change: T505I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224468
AA Change: T570I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225794

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224933

Predicted Effect

probably benign
Transcript: ENSMUST00000225556

Predicted Effect

probably benign
Transcript: ENSMUST00000226051

Meta Mutation Damage Score

0.8931

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (112/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,768,402		probably benign	Het
Acsf3	T	C	8: 122,780,181	L71P	probably damaging	Het
Adamts2	A	T	11: 50,775,374	D399V	probably damaging	Het
Adck2	T	A	6: 39,583,818	V380E	probably benign	Het
Alg11	T	A	8: 22,065,452	V243D	possibly damaging	Het
Ankrd27	T	A	7: 35,619,439	L585Q	probably damaging	Het
Atp7a	T	A	X: 106,109,841	N1117K	probably damaging	Het
Cacna1b	G	A	2: 24,638,657		probably benign	Het
Cacna1d	T	A	14: 30,096,969	M1210L	probably benign	Het
Cacna1s	T	C	1: 136,073,496		probably benign	Het
Ccdc155	C	T	7: 45,200,251	A83T	probably benign	Het
Chd7	T	C	4: 8,852,670		probably benign	Het
Col12a1	A	T	9: 79,652,033	S1858T	probably benign	Het
Cotl1	C	T	8: 119,840,324	W26*	probably null	Het
Csmd3	T	C	15: 47,629,239	T3000A	probably benign	Het
Dcp1a	T	A	14: 30,484,594		probably benign	Het
Ddhd2	A	T	8: 25,739,590		probably null	Het
Dnah8	T	C	17: 30,765,679	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,353,625	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,658,580	A359D	probably damaging	Het
Ece1	T	A	4: 137,949,435		probably benign	Het
Eif4g3	A	G	4: 138,170,562	K1025R	probably damaging	Het
Eml2	C	A	7: 19,184,872	Y82*	probably null	Het
Eml6	A	G	11: 29,792,367	V1057A	possibly damaging	Het
Eral1	A	G	11: 78,076,058		probably benign	Het
Espl1	T	C	15: 102,312,541	S911P	probably benign	Het
Fbxo8	A	G	8: 56,590,261		probably benign	Het
Flrt1	A	T	19: 7,097,110		probably benign	Het
Fndc7	A	G	3: 108,858,919		probably benign	Het
G3bp1	G	A	11: 55,492,028	G139D	probably damaging	Het
Gabra6	C	T	11: 42,314,947	V351I	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Ganab	A	G	19: 8,912,813	D702G	possibly damaging	Het
Gm13762	A	T	2: 88,973,396	L165Q	probably damaging	Het
Hdac10	T	C	15: 89,125,882	E291G	possibly damaging	Het
Hectd3	T	G	4: 117,002,613	V749G	probably damaging	Het
Kcnh1	T	A	1: 192,505,340	I703N	probably benign	Het
Kctd11	A	G	11: 69,879,814	C133R	probably damaging	Het
Lama3	A	T	18: 12,539,823		probably null	Het
Lamb3	T	C	1: 193,335,027	L842P	probably damaging	Het
Ldlr	T	C	9: 21,737,999		probably benign	Het
Lipk	G	A	19: 34,046,810	R336H	probably benign	Het
Lrrc24	T	A	15: 76,723,209	D58V	probably damaging	Het
Lrsam1	A	G	2: 32,955,185	L106P	probably damaging	Het
Milr1	G	A	11: 106,754,896	W88*	probably null	Het
Mmp10	A	G	9: 7,506,543	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,555,738	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 166,054,400	T408A	probably benign	Het
Nefm	T	A	14: 68,121,134	K484*	probably null	Het
Nfasc	A	G	1: 132,601,983	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,462,516	V863A	probably benign	Het
Nos1	C	T	5: 117,867,883	P223S	probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Olfr1440	A	T	19: 12,394,963	E233D	probably benign	Het
Olfr155	T	A	4: 43,854,512	S68T	probably damaging	Het
Olfr228	A	G	2: 86,483,386	S119P	possibly damaging	Het
Osbpl5	T	C	7: 143,741,669		probably null	Het
Otog	C	A	7: 46,264,032		probably null	Het
Pacs1	A	T	19: 5,156,374	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,203,482	T189I	possibly damaging	Het
Pcnx	T	C	12: 81,947,018	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,879,445	W124R	probably damaging	Het
Phex	C	A	X: 157,186,218	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,962,995	D435E	probably benign	Het
Plce1	A	C	19: 38,728,886	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,602,088	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374	S421T	probably benign	Het
Ptprs	T	C	17: 56,436,087		probably null	Het
Qrich1	A	G	9: 108,534,134	D286G	probably damaging	Het
Rcc1	C	A	4: 132,332,915	G393V	probably damaging	Het
Reln	T	C	5: 22,106,045	N290S	probably benign	Het
Rgl1	T	C	1: 152,554,424		probably benign	Het
Rhpn1	C	T	15: 75,714,122	T628I	probably benign	Het
Rilp	A	G	11: 75,510,921	R176G	probably benign	Het
Riok3	C	T	18: 12,155,227	A487V	probably benign	Het
Rnf224	T	C	2: 25,236,207	T45A	probably damaging	Het
Rpa1	A	G	11: 75,328,687	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,848,531	Q693H	probably benign	Het
Scn2a	G	T	2: 65,735,774	V1381F	probably benign	Het
Scp2	T	A	4: 108,098,078	H112L	probably benign	Het
Sdk1	T	C	5: 141,998,747	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,454,527	I332N	probably benign	Het
Slc37a3	A	G	6: 39,337,238	V480A	probably benign	Het
Slc45a4	T	A	15: 73,581,906	E674D	probably benign	Het
Smpd3	T	C	8: 106,265,156	E255G	probably damaging	Het
Snx29	C	T	16: 11,660,553	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,920,336	M275K	probably benign	Het
Stac	T	C	9: 111,635,021	N59S	probably damaging	Het
Stk25	A	T	1: 93,627,060	L131Q	probably damaging	Het
Tep1	C	T	14: 50,863,029		probably benign	Het
Thbs1	C	A	2: 118,114,393	N229K	probably damaging	Het
Tmx2	A	T	2: 84,675,842	H89Q	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tradd	T	C	8: 105,259,292	N209S	possibly damaging	Het
Trappc3l	A	T	10: 34,098,932	R119*	probably null	Het
Trmt1l	G	A	1: 151,457,454		probably benign	Het
Ublcp1	G	T	11: 44,458,277	Y243*	probably null	Het
Uhrf1bp1	T	A	17: 27,895,870		probably benign	Het
Usp24	C	A	4: 106,414,404	C2158*	probably null	Het
Usp34	A	T	11: 23,433,206	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,223,943	S133C	probably damaging	Het
Vmn2r52	A	G	7: 10,159,400	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,304,799	K240E	probably benign	Het
Wdr13	T	G	X: 8,128,045	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734		probably null	Het
Zan	G	A	5: 137,398,362	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,144,083	R123L	possibly damaging	Het
Zfp125	A	T	12: 20,900,561		noncoding transcript	Het
Zfp318	C	T	17: 46,396,813	P266S	probably benign	Het

Other mutations in Kcnma1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Kcnma1	APN	14	23314322	splice site	probably benign
IGL01520:Kcnma1	APN	14	23501143	missense	possibly damaging	0.94
IGL01977:Kcnma1	APN	14	23530299	splice site	probably benign
IGL02140:Kcnma1	APN	14	23309045	missense	probably damaging	1.00
IGL02165:Kcnma1	APN	14	23336967	missense	possibly damaging	0.93
IGL02186:Kcnma1	APN	14	23526813	missense	probably benign	0.28
IGL02268:Kcnma1	APN	14	23543076	missense	probably damaging	1.00
IGL02353:Kcnma1	APN	14	23591613	missense	probably damaging	1.00
IGL02360:Kcnma1	APN	14	23591613	missense	probably damaging	1.00
IGL02491:Kcnma1	APN	14	23311689	missense	probably damaging	1.00
IGL02552:Kcnma1	APN	14	23386259	critical splice donor site	probably null
IGL02625:Kcnma1	APN	14	23363832	missense	probably damaging	1.00
IGL02677:Kcnma1	APN	14	23463156	missense	probably damaging	1.00
IGL02706:Kcnma1	APN	14	23309154	missense	probably damaging	1.00
G1citation:Kcnma1	UTSW	14	24003744	splice site	probably null
PIT4495001:Kcnma1	UTSW	14	23425597	missense	probably benign	0.00
PIT4514001:Kcnma1	UTSW	14	23309035	splice site	probably null
PIT4576001:Kcnma1	UTSW	14	23309035	splice site	probably null
R0071:Kcnma1	UTSW	14	23526767	missense	probably damaging	1.00
R0071:Kcnma1	UTSW	14	23526767	missense	probably damaging	1.00
R0115:Kcnma1	UTSW	14	23314175	missense	probably damaging	1.00
R0172:Kcnma1	UTSW	14	23803166	missense	probably damaging	1.00
R0178:Kcnma1	UTSW	14	23526767	missense	probably damaging	1.00
R0183:Kcnma1	UTSW	14	23508052	missense	probably damaging	1.00
R0240:Kcnma1	UTSW	14	23494579	missense	probably damaging	1.00
R0328:Kcnma1	UTSW	14	23373197	missense	probably damaging	1.00
R0501:Kcnma1	UTSW	14	23311716	missense	possibly damaging	0.80
R0631:Kcnma1	UTSW	14	23509784	splice site	probably benign
R0668:Kcnma1	UTSW	14	23367495	missense	probably damaging	1.00
R0811:Kcnma1	UTSW	14	23300018	missense	probably damaging	0.96
R0812:Kcnma1	UTSW	14	23300018	missense	probably damaging	0.96
R1080:Kcnma1	UTSW	14	23494607	missense	probably damaging	1.00
R1419:Kcnma1	UTSW	14	23367642	missense	probably damaging	0.99
R1446:Kcnma1	UTSW	14	23311724	missense	probably damaging	1.00
R1454:Kcnma1	UTSW	14	23463200	missense	probably damaging	1.00
R1651:Kcnma1	UTSW	14	23314194	missense	probably damaging	1.00
R1826:Kcnma1	UTSW	14	23330929	missense	probably damaging	1.00
R1827:Kcnma1	UTSW	14	23330929	missense	probably damaging	1.00
R1828:Kcnma1	UTSW	14	23330929	missense	probably damaging	1.00
R1864:Kcnma1	UTSW	14	23803162	missense	probably damaging	1.00
R2002:Kcnma1	UTSW	14	23337029	missense	probably damaging	0.99
R2140:Kcnma1	UTSW	14	23314220	missense	probably damaging	1.00
R2278:Kcnma1	UTSW	14	23543083	nonsense	probably null
R2866:Kcnma1	UTSW	14	23373207	missense	probably benign	0.16
R2867:Kcnma1	UTSW	14	23373207	missense	probably benign	0.16
R2867:Kcnma1	UTSW	14	23373207	missense	probably benign	0.16
R2900:Kcnma1	UTSW	14	23803160	missense	probably damaging	1.00
R3820:Kcnma1	UTSW	14	23299938	missense	possibly damaging	0.66
R3821:Kcnma1	UTSW	14	23367611	missense	probably damaging	1.00
R3901:Kcnma1	UTSW	14	23505255	missense	probably damaging	0.98
R3975:Kcnma1	UTSW	14	24003747	critical splice donor site	probably null
R3976:Kcnma1	UTSW	14	24003747	critical splice donor site	probably null
R4352:Kcnma1	UTSW	14	23311652	missense	probably damaging	1.00
R4517:Kcnma1	UTSW	14	23337029	missense	probably damaging	1.00
R4598:Kcnma1	UTSW	14	23803160	missense	probably damaging	1.00
R4604:Kcnma1	UTSW	14	23309038	critical splice donor site	probably null
R4743:Kcnma1	UTSW	14	23803202	missense	probably damaging	1.00
R4754:Kcnma1	UTSW	14	23363836	missense	probably damaging	0.96
R4908:Kcnma1	UTSW	14	23309152	missense	probably damaging	0.99
R4960:Kcnma1	UTSW	14	24004118	intron	probably benign
R5175:Kcnma1	UTSW	14	23336038	critical splice donor site	probably null
R5218:Kcnma1	UTSW	14	23463185	missense	probably damaging	0.96
R5435:Kcnma1	UTSW	14	23528404	nonsense	probably null
R5705:Kcnma1	UTSW	14	24003771	missense	possibly damaging	0.73
R5746:Kcnma1	UTSW	14	23494567	missense	probably damaging	1.00
R5780:Kcnma1	UTSW	14	23386351	nonsense	probably null
R5793:Kcnma1	UTSW	14	23309035	splice site	probably null
R6039:Kcnma1	UTSW	14	23309037	missense	probably benign	0.42
R6039:Kcnma1	UTSW	14	23309037	missense	probably benign	0.42
R6133:Kcnma1	UTSW	14	24003868	missense	probably damaging	0.98
R6271:Kcnma1	UTSW	14	23509889	missense	probably damaging	1.00
R6490:Kcnma1	UTSW	14	23336097	missense	possibly damaging	0.46
R6704:Kcnma1	UTSW	14	24002814	nonsense	probably null
R6822:Kcnma1	UTSW	14	24003744	splice site	probably null
R6855:Kcnma1	UTSW	14	23367611	missense	probably damaging	1.00
R6920:Kcnma1	UTSW	14	23526534	critical splice donor site	probably null
R7017:Kcnma1	UTSW	14	23494643	missense	possibly damaging	0.79
R7081:Kcnma1	UTSW	14	23300018	missense	probably damaging	0.96
R7113:Kcnma1	UTSW	14	23463156	missense	probably damaging	1.00
R7131:Kcnma1	UTSW	14	23367494	missense	probably damaging	1.00
R7172:Kcnma1	UTSW	14	23526623	missense	probably damaging	1.00
R7207:Kcnma1	UTSW	14	23309015	makesense	probably null
R7308:Kcnma1	UTSW	14	23330935	missense	probably damaging	0.99
R7371:Kcnma1	UTSW	14	23494570	missense	possibly damaging	0.94
R7404:Kcnma1	UTSW	14	24002834	missense	unknown
R7560:Kcnma1	UTSW	14	23530242	missense	probably benign	0.15
R7693:Kcnma1	UTSW	14	23367612	missense	probably damaging	1.00
R7763:Kcnma1	UTSW	14	23300006	missense	possibly damaging	0.66
R7809:Kcnma1	UTSW	14	23373256	missense	probably benign	0.16
R7832:Kcnma1	UTSW	14	23390923	missense	probably benign
R7884:Kcnma1	UTSW	14	23336989	missense	probably benign	0.01
R8013:Kcnma1	UTSW	14	23373143	missense	probably benign	0.31
R8014:Kcnma1	UTSW	14	23373143	missense	probably benign	0.31
R8066:Kcnma1	UTSW	14	23311676	missense	probably benign	0.00
R8097:Kcnma1	UTSW	14	23330964	missense	probably damaging	1.00
R8154:Kcnma1	UTSW	14	23311754	missense	possibly damaging	0.62
R8507:Kcnma1	UTSW	14	23591638	missense	probably benign	0.00
R8672:Kcnma1	UTSW	14	23501162	missense	probably damaging	1.00
R8677:Kcnma1	UTSW	14	23386350	missense	probably benign	0.36
R8725:Kcnma1	UTSW	14	23386264	missense	probably benign	0.00
R8727:Kcnma1	UTSW	14	23386264	missense	probably benign	0.00
R8827:Kcnma1	UTSW	14	23367480	missense	probably damaging	1.00
R8880:Kcnma1	UTSW	14	23367650	missense	probably damaging	1.00
R8997:Kcnma1	UTSW	14	23462969	intron	probably benign
R9056:Kcnma1	UTSW	14	23650146	missense	possibly damaging	0.80
R9346:Kcnma1	UTSW	14	23650165	missense	possibly damaging	0.94
R9403:Kcnma1	UTSW	14	23543077	missense	probably benign	0.05
R9438:Kcnma1	UTSW	14	23367585	missense	probably benign	0.00
R9482:Kcnma1	UTSW	14	23390965	missense	probably benign
R9511:Kcnma1	UTSW	14	23311725	missense	possibly damaging	0.90
R9649:Kcnma1	UTSW	14	23451598	critical splice donor site	probably null
R9663:Kcnma1	UTSW	14	24003829	missense	probably benign	0.15
R9673:Kcnma1	UTSW	14	23508055	missense	probably benign	0.01
RF001:Kcnma1	UTSW	14	23311697	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGAAGTTAAAGCCCGTCGTTCTG -3'
(R):5'- TGTTGCCAAGAAGCCCAAGTCTG -3'

Sequencing Primer
(F):5'- AAAGCCCGTCGTTCTGTTTTG -3'
(R):5'- TGGACTATGCAGCAATTCCAAG -3'

Posted On

2013-07-11