Incidental Mutation 'IGL02425:Kcnab1'
ID 292860
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 Kvbeta1.1, mKv(beta)1, Akr8a8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL02425
Quality Score
Chromosome 3
Chromosomal Location 65109384-65378223 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65302179 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 154 (Y154H)
Ref Sequence ENSEMBL: ENSMUSP00000047480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049230]
AlphaFold P63143
Predicted Effect possibly damaging
Transcript: ENSMUST00000049230
AA Change: Y154H

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: Y154H

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430423G03Rik A G 5: 148,950,662 probably benign Het
Adam4 C T 12: 81,421,328 R173H probably benign Het
Akap12 A G 10: 4,356,034 E948G possibly damaging Het
Akr1c12 T C 13: 4,273,750 Y184C probably damaging Het
Avil T C 10: 127,018,447 V761A probably benign Het
Bahd1 T A 2: 118,919,164 F480L probably benign Het
Bicral T C 17: 46,808,454 T714A probably benign Het
Col4a3bp T C 13: 96,609,882 I263T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2d34 C T 15: 82,618,279 V219I probably benign Het
Dsn1 A G 2: 156,996,747 V316A probably damaging Het
Errfi1 T A 4: 150,866,356 F80L probably benign Het
Fam221b A G 4: 43,660,642 probably null Het
Fgd6 G A 10: 94,074,202 G790R probably benign Het
Fn1 T C 1: 71,641,143 probably benign Het
Gldn T A 9: 54,338,721 Y519N probably damaging Het
Il18r1 T C 1: 40,491,221 probably benign Het
Itpr2 A G 6: 146,391,321 V380A probably damaging Het
Lama1 T C 17: 67,811,485 V2564A probably benign Het
Lca5 T C 9: 83,399,721 T337A probably damaging Het
Lrp1 A G 10: 127,571,887 probably null Het
Moxd1 A G 10: 24,279,436 N245S probably benign Het
Napepld T C 5: 21,683,442 E3G probably benign Het
Nr1d2 T C 14: 18,222,011 T87A probably benign Het
Nudt4 T A 10: 95,549,383 T149S probably benign Het
Rad18 A T 6: 112,620,898 D219E probably damaging Het
Ryr2 T C 13: 11,745,674 I1508V probably damaging Het
Setx G A 2: 29,148,408 S1635N probably benign Het
Slc6a19 A G 13: 73,691,800 V121A probably benign Het
Snapc4 T C 2: 26,368,200 D736G probably damaging Het
Spink5 T C 18: 43,990,744 probably null Het
Strip1 T C 3: 107,614,646 I739V probably benign Het
Tmem161a T C 8: 70,176,927 probably null Het
Top1mt T C 15: 75,676,121 T39A probably benign Het
Trpm1 T C 7: 64,240,427 M926T probably damaging Het
Ttn T A 2: 76,757,280 K19744* probably null Het
Vmn2r26 A G 6: 124,061,818 E784G probably damaging Het
Wnk1 A G 6: 119,963,454 F774S probably damaging Het
Zfp317 T A 9: 19,643,613 Y101* probably null Het
Other mutations in Kcnab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Kcnab1 APN 3 65319454 missense probably damaging 1.00
IGL01936:Kcnab1 APN 3 65358274 missense probably damaging 1.00
IGL02291:Kcnab1 APN 3 65357082 missense possibly damaging 0.94
PIT4418001:Kcnab1 UTSW 3 65358320 missense probably benign 0.12
R0017:Kcnab1 UTSW 3 65357106 missense probably damaging 0.98
R0017:Kcnab1 UTSW 3 65357106 missense probably damaging 0.98
R0811:Kcnab1 UTSW 3 65297720 missense probably damaging 1.00
R0812:Kcnab1 UTSW 3 65297720 missense probably damaging 1.00
R1847:Kcnab1 UTSW 3 65302194 critical splice donor site probably null
R1926:Kcnab1 UTSW 3 65376512 missense possibly damaging 0.73
R2064:Kcnab1 UTSW 3 65364639 missense probably benign 0.07
R2152:Kcnab1 UTSW 3 65371440 missense probably damaging 0.99
R2153:Kcnab1 UTSW 3 65371440 missense probably damaging 0.99
R2197:Kcnab1 UTSW 3 65109947 missense probably benign 0.00
R2233:Kcnab1 UTSW 3 65319467 missense probably damaging 1.00
R2235:Kcnab1 UTSW 3 65319467 missense probably damaging 1.00
R2437:Kcnab1 UTSW 3 65357014 splice site probably benign
R3916:Kcnab1 UTSW 3 65304164 critical splice donor site probably null
R4093:Kcnab1 UTSW 3 65299614 missense possibly damaging 0.96
R4347:Kcnab1 UTSW 3 65297475 intron probably benign
R4796:Kcnab1 UTSW 3 65304165 critical splice donor site probably null
R5588:Kcnab1 UTSW 3 65376555 missense possibly damaging 0.59
R7254:Kcnab1 UTSW 3 65319487 missense probably benign 0.08
R7347:Kcnab1 UTSW 3 65376531 missense probably benign 0.07
R7424:Kcnab1 UTSW 3 65266503 missense possibly damaging 0.80
Z1177:Kcnab1 UTSW 3 65266510 missense probably damaging 0.99
Z1177:Kcnab1 UTSW 3 65357133 missense probably benign 0.08
Posted On 2015-04-16