Incidental Mutation 'R7103:Kcnmb4'
ID 551001
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 045195-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7103 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 116253766-116309783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116309164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 88 (Y88C)
Ref Sequence ENSEMBL: ENSMUSP00000065384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068233]
AlphaFold Q9JIN6
Predicted Effect possibly damaging
Transcript: ENSMUST00000068233
AA Change: Y88C

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: Y88C

DomainStartEndE-ValueType
Pfam:CaKB 8 203 2.7e-78 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (61/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,628,181 (GRCm39) T294A probably damaging Het
Adamtsl2 G A 2: 26,997,473 (GRCm39) V893I probably damaging Het
Amph T A 13: 19,333,908 (GRCm39) D656E probably benign Het
Aoah T C 13: 21,207,485 (GRCm39) F568S probably damaging Het
Atr G A 9: 95,747,425 (GRCm39) G236S probably damaging Het
Brd3 T A 2: 27,340,406 (GRCm39) Q601L probably damaging Het
Ccar2 T C 14: 70,379,426 (GRCm39) E524G probably damaging Het
Cog2 T C 8: 125,267,853 (GRCm39) probably null Het
Csnka2ip C A 16: 64,299,120 (GRCm39) V415F unknown Het
Dmp1 A T 5: 104,359,729 (GRCm39) D135V probably damaging Het
Dtna T C 18: 23,786,436 (GRCm39) probably null Het
Endou A G 15: 97,616,810 (GRCm39) S238P probably damaging Het
Ep400 T A 5: 110,881,651 (GRCm39) E779D unknown Het
Fcgbp A G 7: 27,784,387 (GRCm39) E149G probably benign Het
G6pc1 C A 11: 101,265,413 (GRCm39) probably null Het
Gmeb1 T C 4: 131,962,179 (GRCm39) H160R probably damaging Het
Gramd1b T C 9: 40,312,902 (GRCm39) Y22C unknown Het
Hcrtr2 C T 9: 76,161,793 (GRCm39) G199D probably benign Het
Hoxb2 T C 11: 96,244,447 (GRCm39) F353L possibly damaging Het
Itpr2 C A 6: 146,226,572 (GRCm39) V1391F probably damaging Het
Jakmip2 T A 18: 43,673,648 (GRCm39) probably null Het
Kif1a T C 1: 93,005,507 (GRCm39) Y89C probably damaging Het
Kif23 T A 9: 61,827,174 (GRCm39) K892N probably damaging Het
Lama3 T A 18: 12,664,936 (GRCm39) S646T probably benign Het
Lig3 T A 11: 82,688,138 (GRCm39) M709K probably benign Het
Mindy3 C A 2: 12,405,885 (GRCm39) A137S possibly damaging Het
Mis18bp1 T C 12: 65,196,057 (GRCm39) E569G possibly damaging Het
Misp T A 10: 79,662,999 (GRCm39) L472Q probably damaging Het
Mrps5 A T 2: 127,443,330 (GRCm39) T303S probably damaging Het
Msh3 T G 13: 92,411,308 (GRCm39) I630L probably benign Het
Muc21 C A 17: 35,932,432 (GRCm39) A585S unknown Het
Myo16 A G 8: 10,619,673 (GRCm39) Y1408C unknown Het
N4bp2 T C 5: 65,964,189 (GRCm39) V746A probably benign Het
Oga G A 19: 45,771,605 (GRCm39) probably benign Het
Or4c120 A G 2: 89,000,827 (GRCm39) I243T possibly damaging Het
Or4d11 A G 19: 12,013,752 (GRCm39) M118T probably damaging Het
Or5p56 A G 7: 107,589,805 (GRCm39) T78A possibly damaging Het
Ostf1 C T 19: 18,573,715 (GRCm39) M44I probably null Het
Pik3c2b T G 1: 133,033,712 (GRCm39) L1572R probably damaging Het
Pilra T C 5: 137,829,488 (GRCm39) D192G possibly damaging Het
Pkhd1l1 A G 15: 44,437,027 (GRCm39) I3462V probably benign Het
Plekhh1 A G 12: 79,113,429 (GRCm39) D619G probably benign Het
Pramel31 C T 4: 144,090,297 (GRCm39) R446C probably benign Het
Ptprb T A 10: 116,174,718 (GRCm39) Y797N probably damaging Het
Rb1 T C 14: 73,500,084 (GRCm39) D521G probably damaging Het
Rnf17 T G 14: 56,708,763 (GRCm39) F728V possibly damaging Het
Slc16a4 T C 3: 107,218,787 (GRCm39) S463P probably damaging Het
Slc4a1 A T 11: 102,244,693 (GRCm39) I634K probably damaging Het
Slc4a1ap T C 5: 31,701,201 (GRCm39) V634A probably benign Het
Spam1 A G 6: 24,800,583 (GRCm39) M441V probably benign Het
Teddm3 A C 16: 20,971,729 (GRCm39) L280* probably null Het
Tmem231 T C 8: 112,645,517 (GRCm39) probably null Het
Tom1l1 T C 11: 90,561,907 (GRCm39) probably null Het
Topors C T 4: 40,261,706 (GRCm39) G526D probably benign Het
Trpm6 A T 19: 18,790,911 (GRCm39) I649F possibly damaging Het
Ttc16 T A 2: 32,664,440 (GRCm39) M66L probably benign Het
Tubgcp6 A G 15: 88,985,232 (GRCm39) F1619L probably damaging Het
Vps13d G T 4: 144,842,062 (GRCm39) A2619E Het
Vps8 G A 16: 21,345,191 (GRCm39) R838H probably damaging Het
Vwde T A 6: 13,215,799 (GRCm39) M86L probably benign Het
Zfp64 A T 2: 168,768,357 (GRCm39) D418E probably benign Het
Zfp952 C T 17: 33,222,606 (GRCm39) P362S possibly damaging Het
Zglp1 T C 9: 20,977,368 (GRCm39) E149G 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
R5463:Kcnmb4 UTSW 10 116,309,410 (GRCm39) missense probably benign 0.13
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
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
(F):5'- TCTGTTTGCAGAGAGGCTCG -3'
(R):5'- AGGGTGTCTTACGAGTACACG -3'

Sequencing Primer
(F):5'- TTTGCAGAGAGGCTCGCGTAC -3'
(R):5'- CCGAAGACAAGAGCATCCGG -3'
Posted On 2019-05-15