Incidental Mutation 'R5074:Kcnmb4'
ID 386855
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 042663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5074 (G1)
Quality Score 133
Status Not validated
Chromosome 10
Chromosomal Location 116253766-116309783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116309102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 109 (T109A)
Ref Sequence ENSEMBL: ENSMUSP00000065384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068233]
AlphaFold Q9JIN6
Predicted Effect probably benign
Transcript: ENSMUST00000068233
AA Change: T109A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: T109A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,482 (GRCm39) H143Q probably benign Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Ampd2 A T 3: 107,986,549 (GRCm39) M245K probably damaging Het
Apob G A 12: 8,055,219 (GRCm39) probably null Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Aqp1 A T 6: 55,322,520 (GRCm39) I172F probably damaging Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdc25a T A 9: 109,713,208 (GRCm39) C227S possibly damaging Het
Ces1a A G 8: 93,759,303 (GRCm39) S278P possibly damaging Het
Cfap65 A T 1: 74,962,137 (GRCm39) S695T probably benign Het
Col13a1 A G 10: 61,709,797 (GRCm39) silent Het
Ctps1 A T 4: 120,411,170 (GRCm39) L282Q probably damaging Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Dennd3 G A 15: 73,419,144 (GRCm39) R645H probably damaging Het
Dnaaf5 G T 5: 139,159,962 (GRCm39) R620L probably damaging Het
Dnah11 A T 12: 118,046,188 (GRCm39) L1750* probably null Het
Dnah9 A G 11: 65,740,866 (GRCm39) F4107L probably damaging Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dot1l A G 10: 80,620,480 (GRCm39) D514G possibly damaging Het
Dst A C 1: 34,334,344 (GRCm39) K4857N probably damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Enpep T A 3: 129,097,404 (GRCm39) Q409L probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
Hal A T 10: 93,349,904 (GRCm39) I555F probably damaging Het
Hibadh C T 6: 52,597,079 (GRCm39) V122M possibly damaging Het
Hsd3b3 T C 3: 98,649,340 (GRCm39) T328A possibly damaging Het
Ifi44 T C 3: 151,455,269 (GRCm39) probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Inf2 A T 12: 112,578,473 (GRCm39) probably null Het
Itga10 C T 3: 96,559,527 (GRCm39) Q475* probably null Het
Itga6 T A 2: 71,656,779 (GRCm39) D344E probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Lrrc66 G A 5: 73,765,354 (GRCm39) P563L probably damaging Het
Mamdc2 T C 19: 23,356,160 (GRCm39) D96G probably benign Het
Map3k12 A T 15: 102,410,267 (GRCm39) probably null Het
Mc3r A T 2: 172,091,533 (GRCm39) I252F possibly damaging Het
Metrn C T 17: 26,015,613 (GRCm39) G34D probably damaging Het
Mipep A G 14: 61,046,462 (GRCm39) E328G probably benign Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Muc5b A T 7: 141,412,999 (GRCm39) T1982S unknown Het
Myh8 A T 11: 67,196,742 (GRCm39) T1792S possibly damaging Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo5a T A 9: 75,081,438 (GRCm39) S1008T probably benign Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Nup210 T A 6: 91,032,309 (GRCm39) I20F probably benign Het
Odad1 T A 7: 45,578,514 (GRCm39) M29K probably benign Het
Or10ak12 A C 4: 118,666,057 (GRCm39) W319G possibly damaging Het
Or10p21 T C 10: 128,847,213 (GRCm39) Y20H possibly damaging Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or51l14 A T 7: 103,100,617 (GRCm39) E24D probably benign Het
Or52e8b A T 7: 104,673,260 (GRCm39) M309K probably benign Het
Or52n2c A C 7: 104,574,700 (GRCm39) N90K probably benign Het
Or7h8 A T 9: 20,123,878 (GRCm39) I78F possibly damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Papolg G A 11: 23,817,331 (GRCm39) T153I possibly damaging Het
Pappa A G 4: 65,123,365 (GRCm39) H900R probably benign Het
Pcdh17 T C 14: 84,770,782 (GRCm39) S1087P probably benign Het
Phf11a T G 14: 59,521,849 (GRCm39) L107F possibly damaging Het
Phlpp2 A T 8: 110,652,461 (GRCm39) I602F probably damaging Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Pilra A G 5: 137,833,674 (GRCm39) F131L probably damaging Het
Pomt2 A C 12: 87,180,234 (GRCm39) C256G probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prkaa1 G T 15: 5,206,392 (GRCm39) R416L possibly damaging Het
Prkdc C A 16: 15,589,912 (GRCm39) R2592S probably damaging Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Prodh A T 16: 17,895,653 (GRCm39) probably null Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Rbm38 C T 2: 172,863,875 (GRCm39) P15S probably benign Het
Riox2 T C 16: 59,312,236 (GRCm39) S458P possibly damaging Het
Rnase4 T C 14: 51,342,702 (GRCm39) V142A possibly damaging Het
Rnf138 A G 18: 21,159,204 (GRCm39) N244S probably benign Het
Rnf40 T C 7: 127,196,458 (GRCm39) L802P probably damaging Het
Sfxn4 C T 19: 60,839,450 (GRCm39) V203M probably damaging Het
Skor2 G T 18: 76,946,649 (GRCm39) E124* probably null Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Spag17 T A 3: 99,987,434 (GRCm39) Y1575N possibly damaging Het
St8sia4 G A 1: 95,594,910 (GRCm39) A26V probably benign Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Tgm1 A G 14: 55,947,392 (GRCm39) V323A probably damaging Het
Tmco4 A G 4: 138,785,433 (GRCm39) H501R probably damaging Het
Tob1 A T 11: 94,104,567 (GRCm39) R34S possibly damaging Het
Trhr2 C T 8: 123,084,110 (GRCm39) V297I probably benign Het
Trim30d A C 7: 104,137,165 (GRCm39) V13G probably damaging Het
Trpm3 T C 19: 22,862,713 (GRCm39) V485A possibly damaging Het
Trrap T C 5: 144,787,989 (GRCm39) I3518T probably damaging Het
Ttc27 T C 17: 75,054,750 (GRCm39) L352P probably damaging Het
Ush1g A G 11: 115,209,123 (GRCm39) L357P possibly damaging Het
Usp24 A G 4: 106,277,644 (GRCm39) H2258R probably benign Het
Vcam1 A G 3: 115,918,037 (GRCm39) V308A probably damaging Het
Vdr A G 15: 97,755,459 (GRCm39) S355P probably benign Het
Vldlr T C 19: 27,215,677 (GRCm39) S184P probably damaging Het
Xpo4 C A 14: 57,822,098 (GRCm39) A1073S probably benign Het
Zfand2b A G 1: 75,147,634 (GRCm39) D224G probably benign Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging 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
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
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
(F):5'- TCTGTTTGCAGAGAGGCTCG -3'
(R):5'- AGGGTGTCTTACGAGTACACG -3'

Sequencing Primer
(F):5'- TTTGCAGAGAGGCTCGCGTAC -3'
(R):5'- AGGATCTGCAAGCCACGG -3'
Posted On 2016-06-06