Incidental Mutation 'R1499:Kcnmb4'
ID 168714
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 039550-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1499 (G1)
Quality Score 181
Status Validated
Chromosome 10
Chromosomal Location 116253766-116309783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116309203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 75 (D75G)
Ref Sequence ENSEMBL: ENSMUSP00000065384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068233]
AlphaFold Q9JIN6
Predicted Effect possibly damaging
Transcript: ENSMUST00000068233
AA Change: D75G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: D75G

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
Meta Mutation Damage Score 0.0741 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 99% (83/84)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,030,458 (GRCm39) Y763F probably benign Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Actl11 A G 9: 107,808,682 (GRCm39) T1002A probably damaging Het
Ampd1 T A 3: 102,998,980 (GRCm39) N378K probably damaging Het
Arhgap42 A G 9: 9,033,587 (GRCm39) probably benign Het
Arhgap6 C A X: 167,579,499 (GRCm39) P95T possibly damaging Het
Atg14 T C 14: 47,798,102 (GRCm39) N87S probably benign Het
Atp9b C T 18: 80,805,353 (GRCm39) C735Y probably damaging Het
Atp9b T A 18: 80,822,122 (GRCm39) T110S probably benign Het
Birc6 T G 17: 74,919,314 (GRCm39) L221R probably damaging Het
Ces1c A G 8: 93,854,233 (GRCm39) F101L probably benign Het
Cfap91 A G 16: 38,141,762 (GRCm39) V390A probably damaging Het
Chsy1 T C 7: 65,821,750 (GRCm39) Y662H probably damaging Het
Cldn12 A T 5: 5,557,900 (GRCm39) F176I probably benign Het
Col5a2 A G 1: 45,450,626 (GRCm39) S374P probably benign Het
Col6a2 A T 10: 76,439,544 (GRCm39) V740E probably damaging Het
Cpne3 A T 4: 19,526,336 (GRCm39) I401K probably damaging Het
Cspp1 T A 1: 10,159,191 (GRCm39) probably null Het
Ddn G A 15: 98,704,647 (GRCm39) T215I possibly damaging Het
Dync1i1 T C 6: 5,769,799 (GRCm39) probably benign Het
Dync2li1 T C 17: 84,954,667 (GRCm39) probably benign Het
Eif2a T A 3: 58,445,005 (GRCm39) L50* probably null Het
Elavl3 G A 9: 21,929,875 (GRCm39) A343V probably damaging Het
Fastkd1 T C 2: 69,538,982 (GRCm39) probably null Het
Fgf8 C A 19: 45,730,786 (GRCm39) V80F possibly damaging Het
Fras1 A T 5: 96,891,046 (GRCm39) E2858D probably benign Het
Fshr A T 17: 89,293,529 (GRCm39) L383Q probably damaging Het
Glb1 A G 9: 114,246,171 (GRCm39) K74R probably benign Het
Gmeb2 T G 2: 180,897,019 (GRCm39) M290L probably benign Het
Gnptg A G 17: 25,454,828 (GRCm39) probably null Het
Grik2 A C 10: 49,008,871 (GRCm39) S739A probably damaging Het
Grk2 T A 19: 4,337,222 (GRCm39) Q659L probably benign Het
Hdhd5 A G 6: 120,491,473 (GRCm39) V210A probably damaging Het
Hyal1 C T 9: 107,455,091 (GRCm39) L134F probably damaging Het
Itgb2 A T 10: 77,381,987 (GRCm39) K18N possibly damaging Het
Jam3 A T 9: 27,017,701 (GRCm39) I29K possibly damaging Het
Kcnh3 C A 15: 99,137,796 (GRCm39) D830E probably benign Het
Kdm4b A G 17: 56,707,025 (GRCm39) Y981C probably damaging Het
Klk1b26 C A 7: 43,665,810 (GRCm39) D207E probably benign Het
Kmt2a G T 9: 44,759,563 (GRCm39) T762N probably benign Het
Kmt2d A G 15: 98,742,819 (GRCm39) probably benign Het
Lama4 T C 10: 38,964,876 (GRCm39) S1414P possibly damaging Het
Lce1f C G 3: 92,626,276 (GRCm39) C127S unknown Het
Map7d1 A G 4: 126,128,558 (GRCm39) probably null Het
Ninl T C 2: 150,822,096 (GRCm39) D2G possibly damaging Het
Or2w1b T A 13: 21,300,303 (GRCm39) M147K probably benign Het
Or5k3 A G 16: 58,969,287 (GRCm39) T25A probably benign Het
Or5m11b C T 2: 85,806,372 (GRCm39) P262S possibly damaging Het
Or6n1 T A 1: 173,916,813 (GRCm39) L69* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pax8 A G 2: 24,319,608 (GRCm39) Y381H possibly damaging Het
Pde7a T C 3: 19,314,408 (GRCm39) I63V possibly damaging Het
Pgm3 A T 9: 86,452,340 (GRCm39) F40Y probably benign Het
Phrf1 G T 7: 140,836,564 (GRCm39) D78Y probably damaging Het
Plekhg1 C T 10: 3,890,538 (GRCm39) probably benign Het
Prss59 A T 6: 40,898,652 (GRCm39) S199T probably benign Het
Pum1 T C 4: 130,446,567 (GRCm39) S209P probably damaging Het
Qtrt2 A T 16: 43,689,337 (GRCm39) F220L probably benign Het
Rgs9 A G 11: 109,159,747 (GRCm39) probably null Het
Rin3 A G 12: 102,335,018 (GRCm39) T230A unknown Het
Ros1 A T 10: 51,974,773 (GRCm39) V1604E possibly damaging Het
Rpp14 A G 14: 8,090,528 (GRCm38) M151V probably benign Het
Sacs T A 14: 61,451,153 (GRCm39) F4400I possibly damaging Het
Scamp1 C T 13: 94,361,437 (GRCm39) V148I probably benign Het
Slc13a5 A G 11: 72,141,557 (GRCm39) C428R probably damaging Het
Slc43a2 T G 11: 75,453,733 (GRCm39) probably null Het
Smarcc2 T A 10: 128,299,741 (GRCm39) N135K probably damaging Het
Snx15 G C 19: 6,172,094 (GRCm39) S116R probably damaging Het
Stag1 A G 9: 100,737,885 (GRCm39) E414G possibly damaging Het
Stag1 A T 9: 100,769,426 (GRCm39) probably benign Het
Tmem106a T A 11: 101,481,263 (GRCm39) L257Q possibly damaging Het
Tnc C T 4: 63,882,991 (GRCm39) D1968N probably benign Het
Trim42 A G 9: 97,248,138 (GRCm39) L186P possibly damaging Het
Tshb T A 3: 102,685,624 (GRCm39) probably benign Het
Ttn T A 2: 76,584,484 (GRCm39) D13881V probably damaging Het
Uqcrc2 T C 7: 120,239,506 (GRCm39) V56A probably benign Het
Uty G A Y: 1,197,228 (GRCm39) T113I probably damaging Het
Vps13c A G 9: 67,864,787 (GRCm39) E3032G probably benign Het
Wfdc9 T G 2: 164,493,729 (GRCm39) probably benign Het
Zc3h7a G A 16: 10,980,520 (GRCm39) T31I probably damaging Het
Zfp462 T C 4: 55,060,046 (GRCm39) S1191P 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
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
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'- GGAGTTCTTGAGCCCCATAGAAGC -3'
(R):5'- GTGTCTTACGAGTACACGGAAGCC -3'

Sequencing Primer
(F):5'- GGCCATATACTGGAGTACCTG -3'
(R):5'- TACACGGAAGCCGAAGAC -3'
Posted On 2014-04-13