Incidental Mutation 'IGL00841:Kcnab3'
ID 11548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnab3
Ensembl Gene ENSMUSG00000018470
Gene Name potassium voltage-gated channel, shaker-related subfamily, beta member 3
Synonyms mKv(beta)4, C330022D06Rik, Kcnab4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00841
Quality Score
Chromosome 11
Chromosomal Location 69326258-69333042 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69331303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 292 (I292V)
Ref Sequence ENSEMBL: ENSMUSP00000018614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018614]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018614
AA Change: I292V

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: I292V

low complexity region 23 49 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
Pfam:Aldo_ket_red 92 396 1.6e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142328
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1b T C 13: 96,417,830 (GRCm38) probably benign Het
Arl2 C A 19: 6,135,969 (GRCm38) probably benign Het
Atp8b4 A G 2: 126,383,769 (GRCm38) S514P probably damaging Het
Ces1a G T 8: 93,039,536 (GRCm38) S150* probably null Het
Ces1g T A 8: 93,302,987 (GRCm38) D539V possibly damaging Het
Col24a1 A G 3: 145,362,309 (GRCm38) D752G probably damaging Het
Ctsd A C 7: 142,382,681 (GRCm38) S128A probably damaging Het
Dbt G A 3: 116,546,114 (GRCm38) G384S probably benign Het
Dscam G A 16: 96,819,877 (GRCm38) L544F probably damaging Het
Fry T A 5: 150,422,724 (GRCm38) I1566N probably benign Het
Fut8 T A 12: 77,365,321 (GRCm38) H148Q probably benign Het
Ighv1-64 A T 12: 115,507,976 (GRCm38) M1K probably null Het
Ivd T C 2: 118,876,902 (GRCm38) V299A probably benign Het
Mfhas1 T A 8: 35,590,886 (GRCm38) N838K probably damaging Het
Prom1 A T 5: 44,063,116 (GRCm38) probably benign Het
Ros1 T G 10: 52,144,873 (GRCm38) T648P possibly damaging Het
Scel A T 14: 103,529,995 (GRCm38) Q30L probably benign Het
Skp2 A C 15: 9,139,487 (GRCm38) S40R probably benign Het
Tm9sf1 T A 14: 55,642,727 (GRCm38) K71M probably damaging Het
Vegfb A G 19: 6,986,478 (GRCm38) W38R probably damaging Het
Xpo1 T G 11: 23,285,094 (GRCm38) F588V probably damaging Het
Zfp990 C A 4: 145,537,868 (GRCm38) L479M probably damaging Het
Other mutations in Kcnab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Kcnab3 APN 11 69,329,879 (GRCm38) missense probably benign
IGL01642:Kcnab3 APN 11 69,330,430 (GRCm38) missense probably benign
IGL02589:Kcnab3 APN 11 69,332,102 (GRCm38) missense probably benign 0.00
H8786:Kcnab3 UTSW 11 69,328,267 (GRCm38) missense probably damaging 1.00
R0046:Kcnab3 UTSW 11 69,330,227 (GRCm38) critical splice donor site probably null
R0046:Kcnab3 UTSW 11 69,330,227 (GRCm38) critical splice donor site probably null
R2247:Kcnab3 UTSW 11 69,330,190 (GRCm38) missense probably damaging 0.99
R3771:Kcnab3 UTSW 11 69,328,563 (GRCm38) missense probably damaging 0.97
R4725:Kcnab3 UTSW 11 69,330,468 (GRCm38) missense probably benign 0.05
R4927:Kcnab3 UTSW 11 69,326,746 (GRCm38) missense possibly damaging 0.51
R6237:Kcnab3 UTSW 11 69,328,575 (GRCm38) missense probably benign 0.24
R7164:Kcnab3 UTSW 11 69,331,358 (GRCm38) critical splice donor site probably null
R7676:Kcnab3 UTSW 11 69,326,727 (GRCm38) missense probably benign
R7880:Kcnab3 UTSW 11 69,331,464 (GRCm38) missense probably damaging 1.00
R8851:Kcnab3 UTSW 11 69,328,164 (GRCm38) critical splice donor site probably null
R9255:Kcnab3 UTSW 11 69,331,511 (GRCm38) nonsense probably null
Posted On 2012-12-06