Incidental Mutation 'R4093:Kcnab1'
ID 317712
Institutional Source Beutler Lab
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
MMRRC Submission 041627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4093 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 64856636-65285643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65207035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 137 (I137T)
Ref Sequence ENSEMBL: ENSMUSP00000047480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049230]
AlphaFold P63143
Predicted Effect possibly damaging
Transcript: ENSMUST00000049230
AA Change: I137T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: I137T

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: ENSMUST00000161979
SMART Domains Protein: ENSMUSP00000125050
Gene: ENSMUSG00000027827

Pfam:Aldo_ket_red 50 355 1.2e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195685
Meta Mutation Damage Score 0.3930 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 92% (69/75)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,093,996 (GRCm39) M2173V probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Angpt1 T C 15: 42,386,941 (GRCm39) T138A probably damaging Het
Atp2c2 G A 8: 120,476,610 (GRCm39) probably null Het
Cadm2 A G 16: 66,581,675 (GRCm39) V210A possibly damaging Het
Cfap70 A T 14: 20,459,181 (GRCm39) D671E probably damaging Het
Chd2 C T 7: 73,150,764 (GRCm39) E322K possibly damaging Het
Chrnd C T 1: 87,118,729 (GRCm39) Q29* probably null Het
Cip2a T C 16: 48,821,339 (GRCm39) probably benign Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
D030068K23Rik A G 8: 109,978,091 (GRCm39) noncoding transcript Het
Gsdma2 T A 11: 98,541,677 (GRCm39) S135T probably benign Het
Hc A T 2: 34,873,819 (GRCm39) Y158* probably null Het
Hoxb3 C A 11: 96,236,926 (GRCm39) H335N probably damaging Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Ighv1-19 G A 12: 114,672,350 (GRCm39) T90I probably damaging Het
Kansl3 C A 1: 36,384,035 (GRCm39) S729I probably damaging Het
Kcnt1 A T 2: 25,767,927 (GRCm39) E12V probably damaging Het
Klk15 A T 7: 43,588,204 (GRCm39) S171C possibly damaging Het
Lcn2 A T 2: 32,277,728 (GRCm39) M1K probably null Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp8 T A 4: 107,700,468 (GRCm39) C135* probably null Het
Lrrc31 C A 3: 30,749,671 (GRCm39) S54I probably damaging Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Med27 G A 2: 29,267,920 (GRCm39) probably benign Het
Mical1 T C 10: 41,362,933 (GRCm39) probably benign Het
Myt1 A T 2: 181,453,191 (GRCm39) M799L probably damaging Het
Nlrc4 T C 17: 74,752,953 (GRCm39) M477V probably benign Het
Npy4r T C 14: 33,869,098 (GRCm39) I63M probably benign Het
Or2t43 A T 11: 58,457,655 (GRCm39) I172N probably damaging Het
Or52e15 C T 7: 104,645,842 (GRCm39) G90S probably benign Het
Or8b1b T A 9: 38,375,379 (GRCm39) L14Q probably null Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Piezo1 A C 8: 123,227,899 (GRCm39) probably null Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Proser1 T C 3: 53,387,133 (GRCm39) probably null Het
Psme2 A T 14: 55,825,734 (GRCm39) N143K probably benign Het
Pygo2 C A 3: 89,340,571 (GRCm39) P323Q probably damaging Het
Rab11b T C 17: 33,968,763 (GRCm39) T77A possibly damaging Het
Recql5 A G 11: 115,795,714 (GRCm39) S190P probably benign Het
Serpina12 A G 12: 104,004,183 (GRCm39) F150L probably damaging Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a2 C T 17: 12,831,281 (GRCm39) T357M probably damaging Het
Spag6l A C 16: 16,646,888 (GRCm39) N39K probably benign Het
Srl A G 16: 4,315,316 (GRCm39) S109P possibly damaging Het
Tagap A T 17: 8,148,255 (GRCm39) H152L probably damaging Het
Tbx3 T A 5: 119,818,813 (GRCm39) S463T probably benign Het
Tcaf2 A G 6: 42,619,772 (GRCm39) L85P probably damaging Het
Tenm4 A T 7: 96,544,979 (GRCm39) S2332C probably damaging Het
Trim60 A T 8: 65,454,030 (GRCm39) M73K probably benign Het
Trpc1 T C 9: 95,588,918 (GRCm39) T769A probably benign Het
Tubgcp4 T A 2: 121,025,958 (GRCm39) L601Q probably benign Het
Unc5d T C 8: 29,334,865 (GRCm39) Y154C possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Vmn1r57 G T 7: 5,223,856 (GRCm39) S127I possibly damaging Het
Vmn1r62 T A 7: 5,678,943 (GRCm39) M208K probably damaging Het
Vmn2r110 T C 17: 20,803,642 (GRCm39) D311G possibly damaging Het
Vmn2r48 C A 7: 9,676,185 (GRCm39) S432I probably benign Het
Vmn2r48 T A 7: 9,676,186 (GRCm39) S432C probably damaging Het
Vmn2r71 T C 7: 85,270,442 (GRCm39) V536A probably benign Het
Vstm2a A G 11: 16,209,884 (GRCm39) T37A probably damaging Het
Wfs1 T C 5: 37,124,809 (GRCm39) H694R probably damaging Het
Zdbf2 T C 1: 63,348,940 (GRCm39) S2440P possibly damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null Het
Zfp64 T C 2: 168,767,855 (GRCm39) T586A probably benign Het
Zfp943 T A 17: 22,211,963 (GRCm39) C350S 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
IGL02291:Kcnab1 APN 3 65,264,503 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-05-15