Incidental Mutation 'IGL02589:Kcnab3'
ID 299654
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 Kcnab4, C330022D06Rik, mKv(beta)4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02589
Quality Score
Status
Chromosome 11
Chromosomal Location 69217084-69223867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69222928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 392 (I392L)
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: I392L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: I392L

DomainStartEndE-ValueType
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T G 6: 128,558,463 (GRCm39) I5L probably benign Het
Ang6 A G 14: 44,239,419 (GRCm39) I103T possibly damaging Het
Arhgdib A G 6: 136,910,576 (GRCm39) probably benign Het
Atp13a2 C T 4: 140,733,722 (GRCm39) T1037M probably damaging Het
Bptf T C 11: 107,002,357 (GRCm39) N252D possibly damaging Het
Capn2 T C 1: 182,311,913 (GRCm39) Y387C probably damaging Het
Cdc27 T G 11: 104,396,470 (GRCm39) D817A probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntnap3 T G 13: 64,940,244 (GRCm39) I318L probably benign Het
Cog6 A T 3: 52,914,691 (GRCm39) L255Q probably damaging Het
Ect2l T A 10: 18,016,342 (GRCm39) probably benign Het
Ercc5 T C 1: 44,203,209 (GRCm39) V282A probably damaging Het
Fras1 A G 5: 96,917,372 (GRCm39) D3464G probably damaging Het
Gabrg1 A T 5: 70,999,495 (GRCm39) L18* probably null Het
Ggcx T C 6: 72,406,131 (GRCm39) Y586H probably damaging Het
Gm5796 A T 14: 15,379,030 (GRCm39) K24* probably null Het
Gnb4 C T 3: 32,643,998 (GRCm39) V187M probably damaging Het
Gpt2 C T 8: 86,242,795 (GRCm39) Q276* probably null Het
Idnk G T 13: 58,311,239 (GRCm39) probably benign Het
Igkv3-9 A G 6: 70,565,683 (GRCm39) D94G possibly damaging Het
Ipo8 C A 6: 148,711,405 (GRCm39) L294F probably damaging Het
Itgad A T 7: 127,780,883 (GRCm39) D157V probably damaging Het
Kdm3b A G 18: 34,945,471 (GRCm39) S761G possibly damaging Het
Kif21a G A 15: 90,869,489 (GRCm39) T454M probably damaging Het
Lta4h A G 10: 93,310,793 (GRCm39) N441S probably benign Het
Man2a1 A G 17: 64,986,773 (GRCm39) E595G probably benign Het
Micos13 T C 17: 56,915,856 (GRCm39) E66G probably benign Het
Mvd T C 8: 123,164,773 (GRCm39) probably benign Het
Notch2 A G 3: 98,011,663 (GRCm39) probably null Het
Phf20l1 G T 15: 66,487,481 (GRCm39) probably benign Het
Rdm1 A G 11: 101,518,831 (GRCm39) S13G possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scn4a G T 11: 106,218,958 (GRCm39) D953E probably benign Het
Sh2b1 A G 7: 126,068,440 (GRCm39) I457T probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tagap C A 17: 8,152,504 (GRCm39) T563K possibly damaging Het
Ugt1a7c T C 1: 88,023,360 (GRCm39) I173T probably benign Het
Unc79 C T 12: 103,139,755 (GRCm39) A2370V probably damaging Het
Vmn2r102 T A 17: 19,901,480 (GRCm39) C536S probably damaging Het
Vmn2r53 G A 7: 12,315,872 (GRCm39) T649I possibly damaging Het
Whrn G A 4: 63,336,334 (GRCm39) Q301* probably null Het
Zfp1007 T A 5: 109,826,386 (GRCm39) H62L possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Kcnab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Kcnab3 APN 11 69,222,129 (GRCm39) missense probably benign 0.12
IGL01140:Kcnab3 APN 11 69,220,705 (GRCm39) missense probably benign
IGL01642:Kcnab3 APN 11 69,221,256 (GRCm39) missense probably benign
H8786:Kcnab3 UTSW 11 69,219,093 (GRCm39) missense probably damaging 1.00
R0046:Kcnab3 UTSW 11 69,221,053 (GRCm39) critical splice donor site probably null
R0046:Kcnab3 UTSW 11 69,221,053 (GRCm39) critical splice donor site probably null
R2247:Kcnab3 UTSW 11 69,221,016 (GRCm39) missense probably damaging 0.99
R3771:Kcnab3 UTSW 11 69,219,389 (GRCm39) missense probably damaging 0.97
R4725:Kcnab3 UTSW 11 69,221,294 (GRCm39) missense probably benign 0.05
R4927:Kcnab3 UTSW 11 69,217,572 (GRCm39) missense possibly damaging 0.51
R6237:Kcnab3 UTSW 11 69,219,401 (GRCm39) missense probably benign 0.24
R7164:Kcnab3 UTSW 11 69,222,184 (GRCm39) critical splice donor site probably null
R7676:Kcnab3 UTSW 11 69,217,553 (GRCm39) missense probably benign
R7880:Kcnab3 UTSW 11 69,222,290 (GRCm39) missense probably damaging 1.00
R8851:Kcnab3 UTSW 11 69,218,990 (GRCm39) critical splice donor site probably null
R9255:Kcnab3 UTSW 11 69,222,337 (GRCm39) nonsense probably null
Posted On 2015-04-16