Incidental Mutation 'R4927:Kcnab3'
ID 380919
Institutional Source Beutler Lab
Gene Symbol Kcnab3
Ensembl Gene ENSMUSG00000018470
Gene Name potassium voltage-gated channel, shaker-related subfamily, beta member 3
Synonyms Kcnab4, C330022D06Rik, mKv(beta)4
MMRRC Submission 042528-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4927 (G1)
Quality Score 153
Status Validated
Chromosome 11
Chromosomal Location 69217084-69223867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69217572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 22 (C22Y)
Ref Sequence ENSEMBL: ENSMUSP00000018614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018614] [ENSMUST00000060956] [ENSMUST00000092973] [ENSMUST00000102601] [ENSMUST00000102602] [ENSMUST00000108662] [ENSMUST00000123176]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000018614
AA Change: C22Y

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: C22Y

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 probably benign
Transcript: ENSMUST00000060956
SMART Domains Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299

DomainStartEndE-ValueType
Pfam:Sybindin 3 109 2.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092973
SMART Domains Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782

DomainStartEndE-ValueType
coiled coil region 191 218 N/A INTRINSIC
coiled coil region 249 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102601
SMART Domains Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299

DomainStartEndE-ValueType
Pfam:Sybindin 3 137 1.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102602
SMART Domains Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299

DomainStartEndE-ValueType
Pfam:Sybindin 3 137 1.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108662
SMART Domains Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299

DomainStartEndE-ValueType
Pfam:Sybindin 3 127 2.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142328
Predicted Effect probably benign
Transcript: ENSMUST00000123176
Meta Mutation Damage Score 0.0690 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (76/78)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adamts2 T A 11: 50,694,639 (GRCm39) L1142* probably null Het
Arl13b C A 16: 62,622,150 (GRCm39) G381V probably damaging Het
Ash1l G T 3: 88,892,641 (GRCm39) V1507F probably damaging Het
Babam2 T A 5: 31,859,408 (GRCm39) F38I probably benign Het
Bend4 T C 5: 67,557,619 (GRCm39) Y399C probably damaging Het
Btn1a1 A T 13: 23,644,794 (GRCm39) probably null Het
Cacna1g A T 11: 94,319,973 (GRCm39) L1401Q probably damaging Het
Ccdc192 C T 18: 57,863,888 (GRCm39) Q213* probably null Het
Cep192 T C 18: 67,968,195 (GRCm39) V893A probably benign Het
Cnot10 A T 9: 114,447,012 (GRCm39) Y355N probably damaging Het
Col6a5 G C 9: 105,811,163 (GRCm39) S785R unknown Het
Cpa3 A G 3: 20,276,303 (GRCm39) L310P probably damaging Het
Cux2 A G 5: 122,015,152 (GRCm39) I247T probably benign Het
Dab1 A G 4: 104,561,449 (GRCm39) T245A probably benign Het
Dmrta1 A T 4: 89,579,985 (GRCm39) D315V probably damaging Het
Dnah12 T A 14: 26,583,762 (GRCm39) L599* probably null Het
Dync1h1 T C 12: 110,629,289 (GRCm39) I4231T possibly damaging Het
Fat1 T C 8: 45,476,000 (GRCm39) V1659A probably damaging Het
Flot2 G A 11: 77,949,888 (GRCm39) V406M probably damaging Het
Galnt2 A G 8: 125,032,362 (GRCm39) D75G probably damaging Het
Gcnt3 A T 9: 69,942,464 (GRCm39) C35S probably damaging Het
Gp2 A G 7: 119,052,118 (GRCm39) F199L probably benign Het
Gramd2b C T 18: 56,618,523 (GRCm39) P244S probably damaging Het
Hhipl1 T C 12: 108,278,203 (GRCm39) L177P probably damaging Het
Homez T C 14: 55,095,264 (GRCm39) E148G possibly damaging Het
Kcnh8 C A 17: 53,185,009 (GRCm39) S430R probably damaging Het
Kcnn2 T C 18: 45,692,798 (GRCm39) C125R probably benign Het
Klhl7 G A 5: 24,346,185 (GRCm39) R277Q possibly damaging Het
Krt78 A G 15: 101,855,334 (GRCm39) S826P probably benign Het
Krtap14 T C 16: 88,622,919 (GRCm39) Y20C possibly damaging Het
Lrcol1 A G 5: 110,502,163 (GRCm39) probably null Het
Lrrc10b G A 19: 10,434,226 (GRCm39) P152S probably damaging Het
Lrrn3 C G 12: 41,503,124 (GRCm39) D398H probably damaging Het
Map3k19 T C 1: 127,749,932 (GRCm39) I1140V probably benign Het
Mos G A 4: 3,871,093 (GRCm39) T241M probably damaging Het
Nol8 A G 13: 49,807,901 (GRCm39) E39G possibly damaging Het
Olfm1 T G 2: 28,104,798 (GRCm39) S212A probably benign Het
Or2ak6 T A 11: 58,592,633 (GRCm39) F35L probably damaging Het
Pip4p2 G T 4: 14,912,458 (GRCm39) R189L probably damaging Het
Plec G T 15: 76,061,162 (GRCm39) T2947K probably damaging Het
Pramel27 A T 4: 143,578,187 (GRCm39) Q149L probably damaging Het
Rasgrp3 A G 17: 75,823,350 (GRCm39) M474V probably benign Het
Ryr1 T C 7: 28,719,408 (GRCm39) Y4333C unknown Het
Scrn2 G C 11: 96,924,326 (GRCm39) probably null Het
Slc22a12 C A 19: 6,587,791 (GRCm39) V388L probably benign Het
Slc4a11 A G 2: 130,526,866 (GRCm39) V754A probably damaging Het
Slco2b1 A G 7: 99,335,195 (GRCm39) F195S probably damaging Het
Slfn9 A C 11: 82,872,216 (GRCm39) M840R possibly damaging Het
Speer4b T C 5: 27,706,263 (GRCm39) N35D probably damaging Het
Taf1d T A 9: 15,221,250 (GRCm39) D185E probably damaging Het
Taok2 A G 7: 126,475,213 (GRCm39) L245P probably damaging Het
Tent4a A T 13: 69,651,019 (GRCm39) probably null Het
Ticam2 T C 18: 46,693,846 (GRCm39) I80M probably damaging Het
Tmem268 G A 4: 63,502,164 (GRCm39) V331I probably benign Het
Tsga10 T C 1: 37,840,931 (GRCm39) E425G probably damaging Het
Ttc7 A G 17: 87,654,133 (GRCm39) probably null Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Unc13a T C 8: 72,107,489 (GRCm39) H601R probably damaging Het
Vmn2r102 A T 17: 19,880,661 (GRCm39) M1L probably benign Het
Vmn2r120 G T 17: 57,816,125 (GRCm39) N743K probably damaging Het
Wnt6 C A 1: 74,823,295 (GRCm39) probably null Het
Wnt6 A C 1: 74,823,296 (GRCm39) probably null Het
Wnt8a T A 18: 34,680,525 (GRCm39) C297S probably damaging Het
Zfp786 T C 6: 47,797,087 (GRCm39) Q617R probably benign Het
Zfp91 A G 19: 12,753,774 (GRCm39) probably null Het
Zw10 T A 9: 48,979,983 (GRCm39) F371L 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
IGL02589:Kcnab3 APN 11 69,222,928 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TCTAGCTGCAGCCTTCTCAG -3'
(R):5'- GGTGAGCCAGACCTTTAAGC -3'

Sequencing Primer
(F):5'- GCAGCCTTCTCAGCCTTC -3'
(R):5'- GAGCCAGACCTTTAAGCTAAGTTTG -3'
Posted On 2016-04-15