Incidental Mutation 'R5058:Kcnmb4'
ID 391036
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 042648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 116253766-116309783 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 116299833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068233]
AlphaFold Q9JIN6
Predicted Effect probably benign
Transcript: ENSMUST00000068233
SMART Domains Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934

DomainStartEndE-ValueType
Pfam:CaKB 8 203 2.7e-78 PFAM
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: ENSMUST00000164271
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably 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
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
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'- TGGCAAAGTCCTTCAAAGCC -3'
(R):5'- GGAGACTCTTTCCTGAGCTGTC -3'

Sequencing Primer
(F):5'- GATGTTCCTGAATTACAATCCCTG -3'
(R):5'- GAGCTGTCTCTCCAGTCCCAAATAC -3'
Posted On 2016-06-06