Incidental Mutation 'IGL01819:Kcnab1'
ID 154467
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 # IGL01819
Quality Score
Status
Chromosome 3
Chromosomal Location 64856636-65285643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65226875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 185 (Y185N)
Ref Sequence ENSEMBL: ENSMUSP00000047480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049230]
AlphaFold P63143
Predicted Effect probably damaging
Transcript: ENSMUST00000049230
AA Change: Y185N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: Y185N

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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2b A G 11: 62,156,010 (GRCm39) N153S possibly damaging Het
Afm C T 5: 90,672,765 (GRCm39) T200I probably benign Het
Cyp2c67 T C 19: 39,604,165 (GRCm39) D397G probably damaging Het
Dnah9 A G 11: 65,998,952 (GRCm39) V1032A probably benign Het
Elovl7 T G 13: 108,410,854 (GRCm39) V143G probably damaging Het
Fhl4 T C 10: 84,934,734 (GRCm39) K16E probably damaging Het
Golga1 C T 2: 38,924,161 (GRCm39) C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 (GRCm39) R628* probably null Het
Hectd4 A G 5: 121,466,481 (GRCm39) D2432G possibly damaging Het
Iqcf5 T A 9: 106,393,189 (GRCm39) *149R probably null Het
Lars1 G T 18: 42,335,615 (GRCm39) T1167K probably benign Het
Mib2 A T 4: 155,739,715 (GRCm39) probably null Het
Mrps2 T C 2: 28,358,348 (GRCm39) V46A probably benign Het
Myo18b T C 5: 113,025,916 (GRCm39) T45A unknown Het
Myo1e C T 9: 70,250,322 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,405,823 (GRCm39) I132V probably damaging Het
Or4k39 T A 2: 111,239,078 (GRCm39) V106E probably damaging Het
Osbp2 A T 11: 3,667,127 (GRCm39) I8N probably damaging Het
Pcdhb22 A T 18: 37,652,974 (GRCm39) N481Y probably damaging Het
Pde3a T C 6: 141,433,263 (GRCm39) W765R probably damaging Het
Phf11c T C 14: 59,630,586 (GRCm39) T40A probably benign Het
Pih1d2 T A 9: 50,533,177 (GRCm39) S268R probably benign Het
Pkd1l2 T C 8: 117,724,913 (GRCm39) N2333D probably damaging Het
Prex1 A G 2: 166,463,165 (GRCm39) I62T probably damaging Het
Ptcd2 T C 13: 99,463,219 (GRCm39) N245S possibly damaging Het
Ripor3 C A 2: 167,822,763 (GRCm39) V933F probably damaging Het
Sanbr A G 11: 23,534,561 (GRCm39) S105P probably benign Het
Sphk2 A G 7: 45,360,480 (GRCm39) probably null Het
Tfcp2 T G 15: 100,402,320 (GRCm39) E492D probably benign Het
Ttn C T 2: 76,629,106 (GRCm39) V14411I possibly damaging Het
Utp20 T C 10: 88,628,549 (GRCm39) Q915R probably damaging Het
Vmn2r45 C A 7: 8,488,556 (GRCm39) S158I probably benign Het
Other mutations in Kcnab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-02-04