Incidental Mutation 'IGL02291:Kcnab1'
ID 290329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnab1
Ensembl Gene ENSMUSG00000027827
Gene Name potassium voltage-gated channel, shaker-related subfamily, beta member 1
Synonyms mKv(beta)1, Akr8a8, Kvbeta1.1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02291
Quality Score
Chromosome 3
Chromosomal Location 64856636-65285643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65264503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 251 (Y251H)
Ref Sequence ENSEMBL: ENSMUSP00000047480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049230]
AlphaFold P63143
Predicted Effect possibly damaging
Transcript: ENSMUST00000049230
AA Change: Y251H

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: Y251H

Pfam:Aldo_ket_red 85 390 1.8e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159525
SMART Domains Protein: ENSMUSP00000124311
Gene: ENSMUSG00000027827

Pfam:Aldo_ket_red 85 343 1.3e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161404
SMART Domains Protein: ENSMUSP00000125578
Gene: ENSMUSG00000027827

Pfam:Aldo_ket_red 1 284 4e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161979
SMART Domains Protein: ENSMUSP00000125050
Gene: ENSMUSG00000027827

Pfam:Aldo_ket_red 50 355 1.2e-73 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some learning defects but are otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 T A 8: 78,109,344 (GRCm39) probably benign Het
Cfap161 C T 7: 83,440,847 (GRCm39) G135D probably benign Het
Cpne1 A G 2: 155,920,340 (GRCm39) V179A probably damaging Het
Cpsf1 A T 15: 76,487,021 (GRCm39) I219N probably damaging Het
Creb3l4 T G 3: 90,149,290 (GRCm39) R139S probably benign Het
Fer1l4 T C 2: 155,861,458 (GRCm39) K1929E probably damaging Het
Gm5431 A G 11: 48,779,791 (GRCm39) L655P probably damaging Het
Igsf3 T G 3: 101,346,845 (GRCm39) H613Q probably damaging Het
Kmt2d T C 15: 98,763,373 (GRCm39) probably benign Het
Krt17 A T 11: 100,147,319 (GRCm39) V404E probably benign Het
Lipo2 A G 19: 33,723,192 (GRCm39) I199T possibly damaging Het
Mks1 T A 11: 87,750,493 (GRCm39) probably benign Het
Nlrp1a A T 11: 71,013,415 (GRCm39) probably null Het
Nup210 T C 6: 91,078,250 (GRCm39) D100G probably damaging Het
Or13a21 A T 7: 139,999,200 (GRCm39) L162Q probably damaging Het
Or1o11 G A 17: 37,757,176 (GRCm39) V255I possibly damaging Het
Or2y1g T A 11: 49,171,812 (GRCm39) I279N probably damaging Het
Or7h8 T C 9: 20,124,098 (GRCm39) I151T probably benign Het
Psmd5 A G 2: 34,747,811 (GRCm39) V282A probably benign Het
Rasal3 A T 17: 32,612,711 (GRCm39) probably benign Het
Rnf10 T C 5: 115,398,255 (GRCm39) N93D probably damaging Het
Semp2l2a T A 8: 13,887,704 (GRCm39) N129I probably benign Het
Slc7a9 G A 7: 35,156,439 (GRCm39) G294R probably damaging Het
Taf7 C T 18: 37,776,415 (GRCm39) G51R possibly damaging Het
Tas2r126 G A 6: 42,412,221 (GRCm39) M251I probably benign Het
Trim33 T C 3: 103,234,181 (GRCm39) F473S probably damaging Het
Vmn1r127 A G 7: 21,052,999 (GRCm39) L263P possibly damaging Het
Vmn1r234 G A 17: 21,449,193 (GRCm39) V36I probably benign Het
Vmn2r84 T A 10: 130,226,617 (GRCm39) H407L probably damaging Het
Other mutations in Kcnab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Kcnab1 APN 3 65,226,875 (GRCm39) missense probably damaging 1.00
IGL01936:Kcnab1 APN 3 65,265,695 (GRCm39) missense probably damaging 1.00
IGL02425:Kcnab1 APN 3 65,209,600 (GRCm39) missense possibly damaging 0.59
PIT4418001:Kcnab1 UTSW 3 65,265,741 (GRCm39) missense probably benign 0.12
R0017:Kcnab1 UTSW 3 65,264,527 (GRCm39) missense probably damaging 0.98
R0017:Kcnab1 UTSW 3 65,264,527 (GRCm39) missense probably damaging 0.98
R0811:Kcnab1 UTSW 3 65,205,141 (GRCm39) missense probably damaging 1.00
R0812:Kcnab1 UTSW 3 65,205,141 (GRCm39) missense probably damaging 1.00
R1847:Kcnab1 UTSW 3 65,209,615 (GRCm39) critical splice donor site probably null
R1926:Kcnab1 UTSW 3 65,283,933 (GRCm39) missense possibly damaging 0.73
R2064:Kcnab1 UTSW 3 65,272,060 (GRCm39) missense probably benign 0.07
R2152:Kcnab1 UTSW 3 65,278,861 (GRCm39) missense probably damaging 0.99
R2153:Kcnab1 UTSW 3 65,278,861 (GRCm39) missense probably damaging 0.99
R2197:Kcnab1 UTSW 3 65,017,368 (GRCm39) missense probably benign 0.00
R2233:Kcnab1 UTSW 3 65,226,888 (GRCm39) missense probably damaging 1.00
R2235:Kcnab1 UTSW 3 65,226,888 (GRCm39) missense probably damaging 1.00
R2437:Kcnab1 UTSW 3 65,264,435 (GRCm39) splice site probably benign
R3916:Kcnab1 UTSW 3 65,211,585 (GRCm39) critical splice donor site probably null
R4093:Kcnab1 UTSW 3 65,207,035 (GRCm39) missense possibly damaging 0.96
R4347:Kcnab1 UTSW 3 65,204,896 (GRCm39) intron probably benign
R4796:Kcnab1 UTSW 3 65,211,586 (GRCm39) critical splice donor site probably null
R5588:Kcnab1 UTSW 3 65,283,976 (GRCm39) missense possibly damaging 0.59
R7254:Kcnab1 UTSW 3 65,226,908 (GRCm39) missense probably benign 0.08
R7347:Kcnab1 UTSW 3 65,283,952 (GRCm39) missense probably benign 0.07
R7424:Kcnab1 UTSW 3 65,173,924 (GRCm39) missense possibly damaging 0.80
Z1177:Kcnab1 UTSW 3 65,264,554 (GRCm39) missense probably benign 0.08
Z1177:Kcnab1 UTSW 3 65,173,931 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16