Incidental Mutation 'R0631:Kcnma1'
ID 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 MaxiK, BKCa, 5730414M22Rik, BK channel alpha subunit, Slo, Slo1, mSlo1
MMRRC Submission 038820-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.856) question?
Stock # R0631 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 23342356-24055173 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 23559852 bp (GRCm39)
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] [ENSMUST00000212576] [ENSMUST00000190985] [ENSMUST00000179097] [ENSMUST00000188210] [ENSMUST00000188991] [ENSMUST00000188285] [ENSMUST00000190044] [ENSMUST00000179836] [ENSMUST00000223727] [ENSMUST00000223655] [ENSMUST00000223749] [ENSMUST00000225315] [ENSMUST00000224077] [ENSMUST00000224285] [ENSMUST00000226051] [ENSMUST00000225431] [ENSMUST00000224812] [ENSMUST00000225556] [ENSMUST00000224787] [ENSMUST00000224232] [ENSMUST00000224468] [ENSMUST00000225471] [ENSMUST00000225794]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065788
SMART Domains Protein: ENSMUSP00000065293
Gene: ENSMUSG00000063142

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000212576
Predicted Effect probably benign
Transcript: ENSMUST00000190985
Predicted Effect probably benign
Transcript: ENSMUST00000179097
SMART Domains Protein: ENSMUSP00000136568
Gene: ENSMUSG00000063142

DomainStartEndE-ValueType
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: ENSMUST00000188210
SMART Domains Protein: ENSMUSP00000141069
Gene: ENSMUSG00000063142

DomainStartEndE-ValueType
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: ENSMUST00000188991
SMART Domains Protein: ENSMUSP00000140751
Gene: ENSMUSG00000063142

DomainStartEndE-ValueType
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: ENSMUST00000188285
SMART Domains Protein: ENSMUSP00000140275
Gene: ENSMUSG00000063142

DomainStartEndE-ValueType
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: ENSMUST00000190044
SMART Domains Protein: ENSMUSP00000140033
Gene: ENSMUSG00000063142

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000212542
Predicted Effect probably benign
Transcript: ENSMUST00000179836
SMART Domains Protein: ENSMUSP00000137141
Gene: ENSMUSG00000063142

DomainStartEndE-ValueType
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: ENSMUST00000223727
Predicted Effect probably benign
Transcript: ENSMUST00000223655
Predicted Effect probably benign
Transcript: ENSMUST00000224025
Predicted Effect probably benign
Transcript: ENSMUST00000223749
Predicted Effect probably benign
Transcript: ENSMUST00000225315
Predicted Effect probably benign
Transcript: ENSMUST00000224077
Predicted Effect probably benign
Transcript: ENSMUST00000224285
Predicted Effect probably benign
Transcript: ENSMUST00000226051
Predicted Effect probably benign
Transcript: ENSMUST00000225431
Predicted Effect probably benign
Transcript: ENSMUST00000224812
Predicted Effect probably benign
Transcript: ENSMUST00000225556
Predicted Effect probably benign
Transcript: ENSMUST00000224787
Predicted Effect probably benign
Transcript: ENSMUST00000224232
Predicted Effect probably benign
Transcript: ENSMUST00000224468
Predicted Effect probably benign
Transcript: ENSMUST00000225471
Predicted Effect probably benign
Transcript: ENSMUST00000225794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224933
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,982,479 (GRCm39) probably benign Het
Afap1l2 T C 19: 56,904,517 (GRCm39) E594G probably benign Het
Ak8 T G 2: 28,625,677 (GRCm39) I240S probably damaging Het
Akap13 T C 7: 75,264,744 (GRCm39) V174A probably damaging Het
Alppl2 G A 1: 87,017,095 (GRCm39) T66I probably damaging Het
Ankrd61 T A 5: 143,831,697 (GRCm39) I36F probably damaging Het
Antxrl T A 14: 33,780,758 (GRCm39) probably null Het
Arhgef2 G C 3: 88,541,743 (GRCm39) V244L probably damaging Het
Arid1a A G 4: 133,416,481 (GRCm39) I1098T unknown Het
Atr T C 9: 95,756,830 (GRCm39) V903A possibly damaging Het
B3gnt6 C A 7: 97,842,899 (GRCm39) A354S probably benign Het
Bnc1 A T 7: 81,624,114 (GRCm39) I371N probably damaging Het
Camsap1 A T 2: 25,823,659 (GRCm39) S1464T probably damaging Het
Cand2 G A 6: 115,780,766 (GRCm39) E1217K probably damaging Het
Cass4 T C 2: 172,274,331 (GRCm39) I728T probably damaging Het
Ccdc88a A T 11: 29,443,752 (GRCm39) M1378L probably damaging Het
Ccdc9 C A 7: 16,012,384 (GRCm39) W266L probably damaging Het
Cct6b C A 11: 82,627,914 (GRCm39) probably null Het
Cd177 T C 7: 24,456,111 (GRCm39) E219G probably benign Het
Cdkal1 A T 13: 29,538,667 (GRCm39) Y497* probably null Het
Chmp2a T C 7: 12,766,371 (GRCm39) E107G probably damaging Het
Chrna2 T G 14: 66,386,757 (GRCm39) V301G probably benign Het
Chrna7 A G 7: 62,749,391 (GRCm39) C364R probably benign Het
Cltc G T 11: 86,603,439 (GRCm39) L796I probably benign Het
Col12a1 T C 9: 79,610,658 (GRCm39) T249A probably damaging Het
Col13a1 G A 10: 61,723,129 (GRCm39) Q270* probably null Het
Col6a1 C T 10: 76,545,569 (GRCm39) V968M probably benign Het
Copb1 C A 7: 113,832,517 (GRCm39) V511F probably benign Het
Daw1 C G 1: 83,174,981 (GRCm39) S160R probably damaging Het
Ddx46 A G 13: 55,787,590 (GRCm39) probably benign Het
Depdc7 T C 2: 104,552,332 (GRCm39) K492E possibly damaging Het
Dmbt1 C T 7: 130,699,383 (GRCm39) A1004V possibly damaging Het
Dnah7b G A 1: 46,280,152 (GRCm39) V2694I probably benign Het
Dnhd1 T A 7: 105,300,831 (GRCm39) F63I probably benign Het
Edc4 C A 8: 106,617,424 (GRCm39) A1052E possibly damaging Het
Eif2s2 T A 2: 154,726,278 (GRCm39) K129M probably damaging Het
Emx2 A G 19: 59,452,460 (GRCm39) D248G probably damaging Het
Erich6b T C 14: 75,896,449 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,394,400 (GRCm39) K507E probably benign Het
Fanci T A 7: 79,055,953 (GRCm39) V195E probably damaging Het
Fgfr2 T G 7: 129,828,969 (GRCm39) probably benign Het
Frem1 A G 4: 82,890,402 (GRCm39) S1007P probably damaging Het
Fry T C 5: 150,419,817 (GRCm39) I993T possibly damaging Het
Fst A G 13: 114,591,038 (GRCm39) S244P possibly damaging Het
Gcc1 T C 6: 28,421,009 (GRCm39) T103A probably damaging Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Gja3 T C 14: 57,274,219 (GRCm39) D51G possibly damaging Het
Gm10305 A G 4: 99,161,313 (GRCm39) D74G unknown Het
Gm12689 G T 4: 99,184,258 (GRCm39) G37V unknown Het
Gm5424 C T 10: 61,907,313 (GRCm39) noncoding transcript Het
Hephl1 T C 9: 14,995,820 (GRCm39) E434G probably benign Het
Hoatz T A 9: 51,013,253 (GRCm39) R6S probably benign Het
Htatip2 T C 7: 49,423,059 (GRCm39) C205R possibly damaging Het
Igf2r T C 17: 12,936,161 (GRCm39) probably null Het
Ints2 T C 11: 86,124,022 (GRCm39) I589V probably benign Het
Itgae T A 11: 73,005,733 (GRCm39) V299D probably damaging Het
Kif11 A G 19: 37,401,565 (GRCm39) probably benign Het
Kif13a A G 13: 46,932,364 (GRCm39) probably benign Het
Kif18a T A 2: 109,128,667 (GRCm39) probably benign Het
Klhl29 T C 12: 5,144,883 (GRCm39) T406A probably benign Het
Litaf A T 16: 10,784,276 (GRCm39) probably benign Het
Lmntd1 T A 6: 145,375,726 (GRCm39) I71F probably benign Het
Lrit3 A C 3: 129,582,204 (GRCm39) C594W probably damaging Het
Lrp6 T A 6: 134,456,738 (GRCm39) Q842L possibly damaging Het
Lrrcc1 T A 3: 14,605,179 (GRCm39) probably benign Het
Macf1 A T 4: 123,349,317 (GRCm39) L1829* probably null Het
Mapk1ip1 T C 7: 138,437,684 (GRCm39) T249A possibly damaging Het
Mfap4 T C 11: 61,378,006 (GRCm39) F173L probably damaging Het
Mfsd9 C A 1: 40,829,634 (GRCm39) probably benign Het
Mgat4b T C 11: 50,121,590 (GRCm39) S69P probably damaging Het
Mki67 A T 7: 135,306,117 (GRCm39) V620D probably damaging Het
Moxd1 C T 10: 24,128,852 (GRCm39) T201I probably damaging Het
Msh4 G C 3: 153,572,057 (GRCm39) D774E probably benign Het
Myg1 C T 15: 102,240,284 (GRCm39) R37C probably benign Het
Myrf C A 19: 10,206,246 (GRCm39) A57S probably benign Het
Ndst1 G A 18: 60,833,431 (GRCm39) probably benign Het
Nedd4l A T 18: 65,341,574 (GRCm39) probably benign Het
Neil2 T A 14: 63,420,849 (GRCm39) I281F possibly damaging Het
Nfatc2 T A 2: 168,432,035 (GRCm39) D26V probably benign Het
Nt5c A G 11: 115,381,540 (GRCm39) probably null Het
Or13a24 T G 7: 140,154,420 (GRCm39) M118R probably damaging Het
Or2w1b G T 13: 21,300,078 (GRCm39) C72F probably damaging Het
Or2z8 T A 8: 72,812,166 (GRCm39) I214N probably damaging Het
Or5ac20 A G 16: 59,104,570 (GRCm39) C97R possibly damaging Het
Or5t15 T C 2: 86,681,311 (GRCm39) T244A probably benign Het
Ovch2 A G 7: 107,381,228 (GRCm39) S557P probably benign Het
Pik3cg A G 12: 32,255,202 (GRCm39) S262P probably benign Het
Pla2g6 T A 15: 79,190,596 (GRCm39) H322L probably damaging Het
Plch1 A T 3: 63,606,640 (GRCm39) L1079Q probably benign Het
Plekhg4 T A 8: 106,105,934 (GRCm39) V777D probably damaging Het
Plekhg5 A G 4: 152,196,876 (GRCm39) D747G possibly damaging Het
Poln C A 5: 34,276,302 (GRCm39) V318F possibly damaging Het
Pou5f2 T A 13: 78,173,873 (GRCm39) S272T probably benign Het
Ppp1r3e T G 14: 55,114,073 (GRCm39) S200R possibly damaging Het
Prl7d1 G A 13: 27,894,165 (GRCm39) P135S probably benign Het
Ptgs2 G A 1: 149,980,288 (GRCm39) V409I probably benign Het
Ptk2b T C 14: 66,415,200 (GRCm39) T276A probably damaging Het
Ptpn3 T C 4: 57,204,921 (GRCm39) T747A probably damaging Het
Qrfpr A G 3: 36,276,138 (GRCm39) I84T probably damaging Het
Rab44 A G 17: 29,358,118 (GRCm39) D102G possibly damaging Het
Rimoc1 A G 15: 4,015,971 (GRCm39) probably benign Het
Rnf125 A T 18: 21,112,140 (GRCm39) D57V possibly damaging Het
Rnf145 T C 11: 44,450,851 (GRCm39) F392L probably damaging Het
Rttn A G 18: 89,007,670 (GRCm39) N435S probably benign Het
Scn8a A G 15: 100,933,418 (GRCm39) T1500A probably damaging Het
Sgsm1 A G 5: 113,432,989 (GRCm39) probably benign Het
Sgsm3 A T 15: 80,895,937 (GRCm39) *751C probably null Het
Slc35c2 A C 2: 165,122,849 (GRCm39) L145R probably damaging Het
Slc4a7 A T 14: 14,757,382 (GRCm38) E396V probably damaging Het
Smarca4 G C 9: 21,570,280 (GRCm39) probably benign Het
Snapc3 T A 4: 83,336,039 (GRCm39) V17D probably damaging Het
Snta1 G T 2: 154,218,992 (GRCm39) Q448K probably benign Het
Sptbn2 A G 19: 4,790,014 (GRCm39) D1334G probably benign Het
Stard5 A G 7: 83,281,965 (GRCm39) R41G probably damaging Het
Stxbp5 T A 10: 9,660,102 (GRCm39) N731I probably benign Het
Tmem135 T A 7: 88,792,996 (GRCm39) K413* probably null Het
Tmem38a G A 8: 73,333,862 (GRCm39) V114I probably benign Het
Tpr A G 1: 150,298,282 (GRCm39) T1057A probably damaging Het
Ttc23l A T 15: 10,540,066 (GRCm39) L139Q probably damaging Het
Ttn T A 2: 76,585,640 (GRCm39) probably null Het
Tuba3b A G 6: 145,565,302 (GRCm39) T257A probably damaging Het
Tubgcp6 A C 15: 88,985,190 (GRCm39) Y1633D probably damaging Het
Txnl1 C T 18: 63,804,644 (GRCm39) probably benign Het
Unc13b A G 4: 43,182,849 (GRCm39) Q3186R possibly damaging Het
Vmn2r75 T A 7: 85,812,478 (GRCm39) S514C probably null Het
Whrn G A 4: 63,337,726 (GRCm39) T545I probably damaging Het
Zdhhc20 T C 14: 58,095,097 (GRCm39) H154R probably damaging Het
Zfp462 A T 4: 55,007,563 (GRCm39) M1L possibly damaging Het
Zfp831 A G 2: 174,487,083 (GRCm39) K586R possibly damaging Het
Zfp990 A T 4: 145,263,872 (GRCm39) H290L possibly damaging Het
Zfpm1 C T 8: 123,063,613 (GRCm39) probably benign Het
Other mutations in Kcnma1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTGCAAAGGTCCACACTGAGGAAG -3'
(R):5'- CTGAGTCTGGTTGGCTCTAACTGC -3'

Sequencing Primer
(F):5'- GCTTTCAGCTCTGAACAAGG -3'
(R):5'- GGTTGGCTCTAACTGCTTTCTC -3'
Posted On 2013-07-11