Incidental Mutation 'R5463:Kcnmb4'
ID 433112
Institutional Source Beutler Lab
Gene Symbol Kcnmb4
Ensembl Gene ENSMUSG00000054934
Gene Name potassium large conductance calcium-activated channel, subfamily M, beta member 4
Synonyms Slowpoke beta 4, 2900045G12Rik
MMRRC Submission 043025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5463 (G1)
Quality Score 222
Status Not validated
Chromosome 10
Chromosomal Location 116253766-116309783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116309410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 6 (V6E)
Ref Sequence ENSEMBL: ENSMUSP00000065384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068233]
AlphaFold Q9JIN6
Predicted Effect probably benign
Transcript: ENSMUST00000068233
AA Change: V6E

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: V6E

Pfam:CaKB 8 203 2.7e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000080943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000087965
SMART Domains Protein: ENSMUSP00000085278
Gene: ENSMUSG00000054934

Pfam:CaKB 1 110 1.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164271
Meta Mutation Damage Score 0.1095 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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 and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A C 10: 115,406,104 (GRCm39) probably benign Het
Arhgap29 T A 3: 121,782,200 (GRCm39) S71T possibly damaging Het
BC048507 T C 13: 68,011,817 (GRCm39) Y65H probably damaging Het
C3 T C 17: 57,518,720 (GRCm39) E1221G probably benign Het
Calb1 G T 4: 15,885,656 (GRCm39) V76L probably benign Het
Crybg1 T A 10: 43,879,689 (GRCm39) K500* probably null Het
Csmd1 G A 8: 16,034,860 (GRCm39) T2437I probably benign Het
Cyp27b1 G A 10: 126,887,966 (GRCm39) V493I possibly damaging Het
Cyp3a44 T A 5: 145,740,554 (GRCm39) T29S probably benign Het
Dclk3 T C 9: 111,298,328 (GRCm39) V624A probably benign Het
Dnah6 T C 6: 73,069,140 (GRCm39) I2464V probably benign Het
Dock6 A T 9: 21,721,254 (GRCm39) probably null Het
Erap1 C T 13: 74,794,533 (GRCm39) T64I probably damaging Het
Erbb3 A T 10: 128,405,948 (GRCm39) Y1156* probably null Het
Fam168a G A 7: 100,484,602 (GRCm39) A231T probably benign Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fbxo30 T C 10: 11,166,813 (GRCm39) Y512H probably damaging Het
Gcnt2 A T 13: 41,071,650 (GRCm39) I98F possibly damaging Het
Got1 G A 19: 43,493,036 (GRCm39) T295I probably benign Het
Herc2 A G 7: 55,844,010 (GRCm39) E3538G probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Letmd1 C T 15: 100,367,009 (GRCm39) A2V probably damaging Het
Lynx1 G T 15: 74,623,462 (GRCm39) Y28* probably null Het
Mast1 T C 8: 85,652,136 (GRCm39) E304G probably damaging Het
Nipa1 G A 7: 55,629,205 (GRCm39) Q303* probably null Het
Nomo1 G A 7: 45,712,426 (GRCm39) R657H possibly damaging Het
Or51b4 C T 7: 103,530,541 (GRCm39) R303H probably benign Het
Pcdha7 T A 18: 37,108,628 (GRCm39) L551Q probably damaging Het
Pik3r4 T C 9: 105,525,930 (GRCm39) Y267H probably damaging Het
Pnliprp1 A G 19: 58,723,168 (GRCm39) D223G probably damaging Het
Prph G A 15: 98,953,281 (GRCm39) G65D probably benign Het
Pskh1 T C 8: 106,639,464 (GRCm39) L48P probably benign Het
Ptdss1 C A 13: 67,093,365 (GRCm39) N68K probably damaging Het
Rexo5 G A 7: 119,433,526 (GRCm39) G495R probably damaging Het
Ryr1 C A 7: 28,723,448 (GRCm39) A4204S possibly damaging Het
Serpinb9 G A 13: 33,199,659 (GRCm39) S318N probably damaging Het
Slc22a8 G A 19: 8,586,638 (GRCm39) R383H probably benign Het
Trim26 A G 17: 37,162,016 (GRCm39) H145R probably damaging Het
Trps1 A T 15: 50,695,286 (GRCm39) Y286* probably null Het
Vmn1r181 A G 7: 23,683,787 (GRCm39) N84S probably benign Het
Wdfy4 G T 14: 32,873,689 (GRCm39) Q207K probably benign Het
Whrn G A 4: 63,351,053 (GRCm39) T427I probably benign Het
Other mutations in Kcnmb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Kcnmb4 APN 10 116,309,251 (GRCm39) missense probably benign 0.34
IGL02016:Kcnmb4 APN 10 116,282,367 (GRCm39) splice site probably benign
R1499:Kcnmb4 UTSW 10 116,309,203 (GRCm39) missense possibly damaging 0.52
R4355:Kcnmb4 UTSW 10 116,309,189 (GRCm39) missense possibly damaging 0.57
R4361:Kcnmb4 UTSW 10 116,309,410 (GRCm39) missense probably benign 0.13
R5058:Kcnmb4 UTSW 10 116,299,833 (GRCm39) intron probably benign
R5074:Kcnmb4 UTSW 10 116,309,102 (GRCm39) missense probably benign 0.00
R6562:Kcnmb4 UTSW 10 116,309,089 (GRCm39) critical splice donor site probably null
R6883:Kcnmb4 UTSW 10 116,309,248 (GRCm39) missense probably benign 0.00
R7103:Kcnmb4 UTSW 10 116,309,164 (GRCm39) missense possibly damaging 0.94
R7486:Kcnmb4 UTSW 10 116,254,180 (GRCm39) missense probably benign 0.13
R8284:Kcnmb4 UTSW 10 116,254,158 (GRCm39) missense probably damaging 1.00
R8324:Kcnmb4 UTSW 10 116,254,219 (GRCm39) missense probably damaging 1.00
R8377:Kcnmb4 UTSW 10 116,282,290 (GRCm39) missense probably benign 0.35
R8856:Kcnmb4 UTSW 10 116,282,299 (GRCm39) missense possibly damaging 0.60
R8955:Kcnmb4 UTSW 10 116,309,381 (GRCm39) nonsense probably null
R8991:Kcnmb4 UTSW 10 116,282,238 (GRCm39) missense probably benign 0.00
R9219:Kcnmb4 UTSW 10 116,309,372 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-06