Incidental Mutation 'R7880:Kcnab3'
Institutional Source Beutler Lab
Gene Symbol Kcnab3
Ensembl Gene ENSMUSG00000018470
Gene Namepotassium voltage-gated channel, shaker-related subfamily, beta member 3
SynonymsmKv(beta)4, C330022D06Rik, Kcnab4
Accession Numbers

Ncbi RefSeq: NM_010599.4; MGI:1336208

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7880 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location69326258-69333042 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69331464 bp
Amino Acid Change Tyrosine to Cysteine at position 311 (Y311C)
Ref Sequence ENSEMBL: ENSMUSP00000018614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018614]
Predicted Effect probably damaging
Transcript: ENSMUST00000018614
AA Change: Y311C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: Y311C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,909,962 D703V possibly damaging Het
Adamts1 G A 16: 85,798,052 R340* probably null Het
Akap13 A G 7: 75,586,216 T180A probably damaging Het
Arhgap31 G A 16: 38,602,725 A993V probably benign Het
Asxl3 C T 18: 22,522,151 P1073S possibly damaging Het
Bmp3 T G 5: 98,872,575 S286A probably damaging Het
Cacna2d4 C T 6: 119,349,155 S1078F probably damaging Het
Cd101 A G 3: 101,007,866 L799P probably benign Het
Chst13 C T 6: 90,325,080 R28H possibly damaging Het
CN725425 T A 15: 91,246,105 C390* probably null Het
Crabp1 C A 9: 54,765,658 C82* probably null Het
Cyp2b23 A C 7: 26,673,134 V352G probably damaging Het
Dmrta1 T A 4: 89,688,844 V179E possibly damaging Het
Ect2l T C 10: 18,136,954 D839G possibly damaging Het
Espnl A T 1: 91,344,766 E616V possibly damaging Het
Fam50b C A 13: 34,746,819 Q93K probably benign Het
Focad C T 4: 88,401,170 R1539C unknown Het
Gm14443 T A 2: 175,169,370 I428L probably benign Het
Gm7030 T A 17: 36,127,869 H210L possibly damaging Het
Gramd1c C G 16: 43,992,076 A193P probably benign Het
Gsn A G 2: 35,283,927 H54R probably damaging Het
Gucy2g T A 19: 55,206,280 I902F probably damaging Het
Heg1 T C 16: 33,719,509 S280P possibly damaging Het
Herc1 G T 9: 66,508,224 R4827L probably damaging Het
Igsf21 A G 4: 140,157,508 C46R probably damaging Het
Kansl1 G T 11: 104,424,153 A353D probably damaging Het
Kctd18 A G 1: 57,967,619 I24T possibly damaging Het
Lpcat4 C A 2: 112,240,031 H30N probably benign Het
Lrrc4c A G 2: 97,630,798 I590V probably benign Het
Lrrc69 T C 4: 14,703,946 I291M possibly damaging Het
Nsun6 A C 2: 14,996,379 C455W probably damaging Het
Olfr1112 T A 2: 87,192,090 C134* probably null Het
Olfr1264 A T 2: 90,022,037 F10I probably damaging Het
Olfr832 T G 9: 18,944,728 L27V probably benign Het
Olfr992 G T 2: 85,400,035 S166Y possibly damaging Het
Orc6 T C 8: 85,305,244 I162T probably benign Het
Pex13 A T 11: 23,649,369 S381T probably benign Het
Ppil1 G A 17: 29,261,788 H54Y probably damaging Het
Prrt4 T C 6: 29,170,156 I766V probably benign Het
Rab32 C T 10: 10,546,415 V187M probably damaging Het
Sema5a T A 15: 32,686,808 I1022N probably damaging Het
Sipa1l2 T C 8: 125,464,393 T953A probably damaging Het
Snapc3 T C 4: 83,435,194 S157P probably damaging Het
Spink5 A G 18: 43,986,326 R235G probably benign Het
Stx5a G A 19: 8,742,328 G19D probably damaging Het
Taf4 G A 2: 179,932,029 T682M probably damaging Het
Taf4 G A 2: 179,935,933 R532* probably null Het
Tmpo T A 10: 91,166,030 K106* probably null Het
Trnt1 T C 6: 106,769,556 probably null Het
Vmn1r228 A T 17: 20,776,410 I282N probably damaging Het
Vps13d A T 4: 145,181,114 probably null Het
Zfp703 A G 8: 26,978,690 I51V unknown Het
Zfp787 A G 7: 6,132,191 F354L probably benign Het
Znrf2 T C 6: 54,817,347 V111A probably benign Het
Zwint G T 10: 72,657,092 R182L probably benign Het
Other mutations in Kcnab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Kcnab3 APN 11 69331303 missense probably benign 0.12
IGL01140:Kcnab3 APN 11 69329879 missense probably benign
IGL01642:Kcnab3 APN 11 69330430 missense probably benign
IGL02589:Kcnab3 APN 11 69332102 missense probably benign 0.00
H8786:Kcnab3 UTSW 11 69328267 missense probably damaging 1.00
R0046:Kcnab3 UTSW 11 69330227 critical splice donor site probably null
R0046:Kcnab3 UTSW 11 69330227 critical splice donor site probably null
R2247:Kcnab3 UTSW 11 69330190 missense probably damaging 0.99
R3771:Kcnab3 UTSW 11 69328563 missense probably damaging 0.97
R4725:Kcnab3 UTSW 11 69330468 missense probably benign 0.05
R4927:Kcnab3 UTSW 11 69326746 missense possibly damaging 0.51
R6237:Kcnab3 UTSW 11 69328575 missense probably benign 0.24
R7164:Kcnab3 UTSW 11 69331358 critical splice donor site probably null
R7676:Kcnab3 UTSW 11 69326727 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-12-20