Mutagenetix > Incidental Mutations

Incidental Mutation 'R0631:Kcnma1'

57999

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

038820-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23289431-24014491 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 23509784 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065788] [ENSMUST00000074983] [ENSMUST00000100831] [ENSMUST00000112423] [ENSMUST00000145596] [ENSMUST00000163322] [ENSMUST00000172099] [ENSMUST00000177634] [ENSMUST00000179097] [ENSMUST00000179836] [ENSMUST00000188210] [ENSMUST00000188285] [ENSMUST00000188991] [ENSMUST00000190044] [ENSMUST00000190985] [ENSMUST00000212576] [ENSMUST00000223655] [ENSMUST00000223727] [ENSMUST00000223749] [ENSMUST00000224077] [ENSMUST00000224232] [ENSMUST00000224285] [ENSMUST00000224468] [ENSMUST00000224787] [ENSMUST00000224812] [ENSMUST00000225315] [ENSMUST00000225431] [ENSMUST00000225471] [ENSMUST00000225556] [ENSMUST00000225794] [ENSMUST00000226051]

Predicted Effect

probably benign
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 benign
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

SMART Domains

Protein: ENSMUSP00000098393
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	2.1e-18	PFAM
Pfam:Ion_trans_2	180	268	5.5e-16	PFAM
Pfam:TrkA_N	314	413	7.3e-7	PFAM
Pfam:BK_channel_a	411	509	6.2e-31	PFAM
low complexity region	865	873	N/A	INTRINSIC
low complexity region	921	932	N/A	INTRINSIC
low complexity region	1035	1061	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112423

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 benign
Transcript: ENSMUST00000145596

Predicted Effect

probably benign
Transcript: ENSMUST00000163322

SMART Domains

Protein: ENSMUSP00000128553
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	3.2e-18	PFAM
Pfam:Ion_trans_2	180	268	1.1e-15	PFAM
Pfam:TrkA_N	314	413	7e-7	PFAM
Pfam:BK_channel_a	411	509	6e-31	PFAM
low complexity region	832	840	N/A	INTRINSIC
low complexity region	888	899	N/A	INTRINSIC
low complexity region	1002	1028	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: 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 benign
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 benign
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 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 benign
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 benign
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 benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000212542

Predicted Effect

probably benign
Transcript: ENSMUST00000212576

Predicted Effect

probably benign
Transcript: ENSMUST00000223655

Predicted Effect

probably benign
Transcript: ENSMUST00000223727

Predicted Effect

probably benign
Transcript: ENSMUST00000223749

Predicted Effect

probably benign
Transcript: ENSMUST00000224025

Predicted Effect

probably benign
Transcript: ENSMUST00000224077

Predicted Effect

probably benign
Transcript: ENSMUST00000224232

Predicted Effect

probably benign
Transcript: ENSMUST00000224285

Predicted Effect

probably benign
Transcript: ENSMUST00000224468

Predicted Effect

probably benign
Transcript: ENSMUST00000224787

Predicted Effect

probably benign
Transcript: ENSMUST00000224812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224933

Predicted Effect

probably benign
Transcript: ENSMUST00000225315

Predicted Effect

probably benign
Transcript: ENSMUST00000225431

Predicted Effect

probably benign
Transcript: ENSMUST00000225471

Predicted Effect

probably benign
Transcript: ENSMUST00000225556

Predicted Effect

probably benign
Transcript: ENSMUST00000225794

Predicted Effect

probably benign
Transcript: ENSMUST00000226051

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	T	A	9: 51,101,953	R6S	probably benign	Het
Aadat	T	C	8: 60,529,445		probably benign	Het
Afap1l2	T	C	19: 56,916,085	E594G	probably benign	Het
Ak8	T	G	2: 28,735,665	I240S	probably damaging	Het
Akap13	T	C	7: 75,614,996	V174A	probably damaging	Het
Alppl2	G	A	1: 87,089,373	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,894,879	I36F	probably damaging	Het
Antxrl	T	A	14: 34,058,801		probably null	Het
Arhgef2	G	C	3: 88,634,436	V244L	probably damaging	Het
Arid1a	A	G	4: 133,689,170	I1098T	unknown	Het
Atr	T	C	9: 95,874,777	V903A	possibly damaging	Het
AW549877	A	G	15: 3,986,489		probably benign	Het
B3gnt6	C	A	7: 98,193,692	A354S	probably benign	Het
Bnc1	A	T	7: 81,974,366	I371N	probably damaging	Het
Camsap1	A	T	2: 25,933,647	S1464T	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Cass4	T	C	2: 172,432,411	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,493,752	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,278,459	W266L	probably damaging	Het
Cct6b	C	A	11: 82,737,088		probably null	Het
Cd177	T	C	7: 24,756,686	E219G	probably benign	Het
Cdkal1	A	T	13: 29,354,684	Y497*	probably null	Het
Chmp2a	T	C	7: 13,032,444	E107G	probably damaging	Het
Chrna2	T	G	14: 66,149,308	V301G	probably benign	Het
Chrna7	A	G	7: 63,099,643	C364R	probably benign	Het
Cltc	G	T	11: 86,712,613	L796I	probably benign	Het
Col12a1	T	C	9: 79,703,376	T249A	probably damaging	Het
Col13a1	G	A	10: 61,887,350	Q270*	probably null	Het
Col6a1	C	T	10: 76,709,735	V968M	probably benign	Het
Copb1	C	A	7: 114,233,282	V511F	probably benign	Het
Daw1	C	G	1: 83,197,260	S160R	probably damaging	Het
Ddx46	A	G	13: 55,639,777		probably benign	Het
Depdc7	T	C	2: 104,721,987	K492E	possibly damaging	Het
Dmbt1	C	T	7: 131,097,653	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,240,992	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,651,624	F63I	probably benign	Het
Edc4	C	A	8: 105,890,792	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,884,358	K129M	probably damaging	Het
Emx2	A	G	19: 59,464,028	D248G	probably damaging	Het
Erich6b	T	C	14: 75,659,009		probably benign	Het
Exoc3l4	A	G	12: 111,427,966	K507E	probably benign	Het
Fanci	T	A	7: 79,406,205	V195E	probably damaging	Het
Fgfr2	T	G	7: 130,227,239		probably benign	Het
Frem1	A	G	4: 82,972,165	S1007P	probably damaging	Het
Fry	T	C	5: 150,496,352	I993T	possibly damaging	Het
Fst	A	G	13: 114,454,502	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,010	T103A	probably damaging	Het
Gdf2	C	T	14: 33,941,221	P24L	probably damaging	Het
Gja3	T	C	14: 57,036,762	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,273,076	D74G	unknown	Het
Gm12689	G	T	4: 99,296,021	G37V	unknown	Het
Gm5424	C	T	10: 62,071,534		noncoding transcript	Het
Hephl1	T	C	9: 15,084,524	E434G	probably benign	Het
Htatip2	T	C	7: 49,773,311	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,717,274		probably null	Het
Ints2	T	C	11: 86,233,196	I589V	probably benign	Het
Itgae	T	A	11: 73,114,907	V299D	probably damaging	Het
Kif11	A	G	19: 37,413,117		probably benign	Het
Kif13a	A	G	13: 46,778,888		probably benign	Het
Kif18a	T	A	2: 109,298,322		probably benign	Het
Klhl29	T	C	12: 5,094,883	T406A	probably benign	Het
Litaf	A	T	16: 10,966,412		probably benign	Het
Lmntd1	T	A	6: 145,430,000	I71F	probably benign	Het
Lrit3	A	C	3: 129,788,555	C594W	probably damaging	Het
Lrp6	T	A	6: 134,479,775	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,540,119		probably benign	Het
Macf1	A	T	4: 123,455,524	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,835,955	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,487,180	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,790,474		probably benign	Het
Mgat4b	T	C	11: 50,230,763	S69P	probably damaging	Het
Mki67	A	T	7: 135,704,388	V620D	probably damaging	Het
Moxd1	C	T	10: 24,252,954	T201I	probably damaging	Het
Msh4	G	C	3: 153,866,420	D774E	probably benign	Het
Myg1	C	T	15: 102,331,849	R37C	probably benign	Het
Myrf	C	A	19: 10,228,882	A57S	probably benign	Het
Ndst1	G	A	18: 60,700,359		probably benign	Het
Nedd4l	A	T	18: 65,208,503		probably benign	Het
Neil2	T	A	14: 63,183,400	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,590,115	D26V	probably benign	Het
Nt5c	A	G	11: 115,490,714		probably null	Het
Olfr1095	T	C	2: 86,850,967	T244A	probably benign	Het
Olfr1369-ps1	G	T	13: 21,115,908	C72F	probably damaging	Het
Olfr202	A	G	16: 59,284,207	C97R	possibly damaging	Het
Olfr372	T	A	8: 72,058,322	I214N	probably damaging	Het
Olfr538	T	G	7: 140,574,507	M118R	probably damaging	Het
Ovch2	A	G	7: 107,782,021	S557P	probably benign	Het
Pik3cg	A	G	12: 32,205,203	S262P	probably benign	Het
Pla2g6	T	A	15: 79,306,396	H322L	probably damaging	Het
Plch1	A	T	3: 63,699,219	L1079Q	probably benign	Het
Plekhg4	T	A	8: 105,379,302	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,112,419	D747G	possibly damaging	Het
Poln	C	A	5: 34,118,958	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,025,754	S272T	probably benign	Het
Ppp1r3e	T	G	14: 54,876,616	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,710,182	P135S	probably benign	Het
Ptgs2	G	A	1: 150,104,537	V409I	probably benign	Het
Ptk2b	T	C	14: 66,177,751	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,221,989	I84T	probably damaging	Het
Rab44	A	G	17: 29,139,144	D102G	possibly damaging	Het
Rnf125	A	T	18: 20,979,083	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,560,024	F392L	probably damaging	Het
Rttn	A	G	18: 88,989,546	N435S	probably benign	Het
Scn8a	A	G	15: 101,035,537	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,285,123		probably benign	Het
Sgsm3	A	T	15: 81,011,736	*751C	probably null	Het
Slc35c2	A	C	2: 165,280,929	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382	E396V	probably damaging	Het
Smarca4	G	C	9: 21,658,984		probably benign	Het
Snapc3	T	A	4: 83,417,802	V17D	probably damaging	Het
Snta1	G	T	2: 154,377,072	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,739,986	D1334G	probably benign	Het
Stard5	A	G	7: 83,632,757	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,784,358	N731I	probably benign	Het
Tmem135	T	A	7: 89,143,788	K413*	probably null	Het
Tmem38a	G	A	8: 72,580,018	V114I	probably benign	Het
Tpr	A	G	1: 150,422,531	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,539,980	L139Q	probably damaging	Het
Ttn	T	A	2: 76,755,296		probably null	Het
Tuba3b	A	G	6: 145,619,576	T257A	probably damaging	Het
Tubgcp6	A	C	15: 89,100,987	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,671,573		probably benign	Het
Unc13b	A	G	4: 43,182,849	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 86,163,270	S514C	probably null	Het
Whrn	G	A	4: 63,419,489	T545I	probably damaging	Het
Zdhhc20	T	C	14: 57,857,640	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,645,290	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,537,302	H290L	possibly damaging	Het
Zfpm1	C	T	8: 122,336,874		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
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
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
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
R7915:Kcnma1	UTSW	14	23390923	missense	probably benign
R7967:Kcnma1	UTSW	14	23336989	missense	probably benign	0.01
RF001:Kcnma1	UTSW	14	23311697	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCAAAGGTCCACACTGAGGAAG -3'
(R):5'- CTGAGTCTGGTTGGCTCTAACTGC -3'

Sequencing Primer
(F):5'- GCTTTCAGCTCTGAACAAGG -3'
(R):5'- GGTTGGCTCTAACTGCTTTCTC -3'

Posted On

2013-07-11