Incidental Mutation 'R6271:Kcnma1'
ID 507357
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 044379-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.856) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 23342356-24055173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23559957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 347 (V347D)
Ref Sequence ENSEMBL: ENSMUSP00000152959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065788] [ENSMUST00000074983] [ENSMUST00000100831] [ENSMUST00000112423] [ENSMUST00000145596] [ENSMUST00000163322] [ENSMUST00000188285] [ENSMUST00000172099] [ENSMUST00000177634] [ENSMUST00000179097] [ENSMUST00000179836] [ENSMUST00000188991] [ENSMUST00000190044] [ENSMUST00000212576] [ENSMUST00000223655] [ENSMUST00000188210] [ENSMUST00000190985] [ENSMUST00000223727] [ENSMUST00000223749] [ENSMUST00000224077] [ENSMUST00000224232] [ENSMUST00000224285] [ENSMUST00000224468] [ENSMUST00000224787] [ENSMUST00000224812] [ENSMUST00000225315] [ENSMUST00000225431] [ENSMUST00000225471] [ENSMUST00000225556] [ENSMUST00000226051] [ENSMUST00000225794]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065788
AA Change: V287D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065293
Gene: ENSMUSG00000063142
AA Change: V287D

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 damaging
Transcript: ENSMUST00000074983
AA Change: V287D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074511
Gene: ENSMUSG00000063142
AA Change: V287D

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 damaging
Transcript: ENSMUST00000100831
AA Change: V287D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098393
Gene: ENSMUSG00000063142
AA Change: V287D

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 damaging
Transcript: ENSMUST00000112423
AA Change: V233D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108042
Gene: ENSMUSG00000063142
AA Change: V233D

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 damaging
Transcript: ENSMUST00000145596
AA Change: V412D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000163322
AA Change: V287D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128553
Gene: ENSMUSG00000063142
AA Change: V287D

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 damaging
Transcript: ENSMUST00000188285
AA Change: V412D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140275
Gene: ENSMUSG00000063142
AA Change: V412D

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 damaging
Transcript: ENSMUST00000172099
AA Change: V287D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132204
Gene: ENSMUSG00000063142
AA Change: V287D

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 damaging
Transcript: ENSMUST00000177634
AA Change: V287D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136447
Gene: ENSMUSG00000063142
AA Change: V287D

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 damaging
Transcript: ENSMUST00000179097
AA Change: V287D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136568
Gene: ENSMUSG00000063142
AA Change: V287D

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 damaging
Transcript: ENSMUST00000179836
AA Change: V287D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137141
Gene: ENSMUSG00000063142
AA Change: V287D

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 damaging
Transcript: ENSMUST00000188991
AA Change: V412D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140751
Gene: ENSMUSG00000063142
AA Change: V412D

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 damaging
Transcript: ENSMUST00000190044
AA Change: V412D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140033
Gene: ENSMUSG00000063142
AA Change: V412D

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 probably damaging
Transcript: ENSMUST00000212576
AA Change: V213D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223655
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000188210
AA Change: V347D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141069
Gene: ENSMUSG00000063142
AA Change: V347D

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 damaging
Transcript: ENSMUST00000190985
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212542
Predicted Effect probably damaging
Transcript: ENSMUST00000223727
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223749
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224025
AA Change: V362D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224077
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224232
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224285
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224468
AA Change: V412D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224787
AA Change: V293D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224812
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225315
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225431
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225471
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225556
AA Change: V347D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000226051
AA Change: V254D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000225794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224933
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A 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
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
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'- AGGAGCCAGCACCAATCATG -3'
(R):5'- GAGCCTCTGAGCAACTGTTAGTG -3'

Sequencing Primer
(F):5'- CCAATCATGGCTTATTTAACCCTG -3'
(R):5'- CCTCTGAGCAACTGTTAGTGATATCG -3'
Posted On 2018-03-15