Incidental Mutation 'IGL01506:Kcnmb4'
ID 89071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnmb4
Ensembl Gene ENSMUSG00000054934
Gene Name potassium large conductance calcium-activated channel, subfamily M, beta member 4
Synonyms Slowpoke beta 4, 2900045G12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01506
Quality Score
Status
Chromosome 10
Chromosomal Location 116253766-116309783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116309251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000065384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068233]
AlphaFold Q9JIN6
Predicted Effect probably benign
Transcript: ENSMUST00000068233
AA Change: V59A

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: V59A

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
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,247,447 (GRCm39) V2398A probably benign Het
Abhd2 T A 7: 78,975,200 (GRCm39) I130N possibly damaging Het
Adamts15 A T 9: 30,833,430 (GRCm39) I35N probably benign Het
Car8 T A 4: 8,169,761 (GRCm39) E249V probably damaging Het
Dpp8 A G 9: 64,970,699 (GRCm39) probably benign Het
Gstm2 T G 3: 107,892,559 (GRCm39) probably null Het
Krt76 T C 15: 101,800,835 (GRCm39) I154V probably damaging Het
Lama1 G A 17: 68,092,065 (GRCm39) R1646H probably benign Het
Larp1b C A 3: 40,987,875 (GRCm39) Y32* probably null Het
Magea4 G A X: 71,266,376 (GRCm39) D252N probably damaging Het
Mat1a C A 14: 40,831,395 (GRCm39) A41E probably damaging Het
Neb A T 2: 52,137,202 (GRCm39) V3190E probably damaging Het
Nop53 G A 7: 15,674,082 (GRCm39) P249L probably damaging Het
Or8b44 A G 9: 38,410,171 (GRCm39) I69V probably benign Het
Osbpl7 T C 11: 96,943,126 (GRCm39) L126P probably benign Het
Plxna4 A T 6: 32,493,470 (GRCm39) L382Q probably damaging Het
Poli G A 18: 70,642,802 (GRCm39) T403I probably benign Het
Slc44a2 T C 9: 21,249,246 (GRCm39) Y9H probably benign Het
Snx4 T C 16: 33,084,624 (GRCm39) probably benign Het
Son A T 16: 91,454,174 (GRCm39) I974L possibly damaging Het
Stil T C 4: 114,881,309 (GRCm39) S618P probably benign Het
Syndig1 C T 2: 149,741,677 (GRCm39) R88C probably damaging Het
Trpm1 T A 7: 63,893,329 (GRCm39) F944L probably damaging Het
Other mutations in Kcnmb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-03