Incidental Mutation 'R4725:Kcnab3'
ID 358419
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 041960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4725 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69217084-69223867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69221294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 204 (N204D)
Ref Sequence ENSEMBL: ENSMUSP00000018614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018614] [ENSMUST00000060956] [ENSMUST00000102601] [ENSMUST00000102602] [ENSMUST00000108662]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018614
AA Change: N204D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: N204D

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: 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: ENSMUST00000134561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142328
Meta Mutation Damage Score 0.1136 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,769 (GRCm39) probably benign Het
Adamts20 T C 15: 94,249,643 (GRCm39) E458G probably damaging Het
Adgrl3 T C 5: 81,914,052 (GRCm39) I1220T possibly damaging Het
Aldh1a1 T A 19: 20,617,445 (GRCm39) M459K probably benign Het
Bmal1 C A 7: 112,903,566 (GRCm39) P454Q possibly damaging Het
Camta1 A G 4: 151,232,953 (GRCm39) V240A probably benign Het
Ccdc88b C T 19: 6,834,481 (GRCm39) G149R probably damaging Het
Ceacam5 T C 7: 17,494,602 (GRCm39) V870A probably benign Het
Cep192 A C 18: 67,949,837 (GRCm39) Q307P probably benign Het
Cep63 T C 9: 102,467,755 (GRCm39) probably benign Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Ctdsp1 G A 1: 74,433,823 (GRCm39) V135I possibly damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dchs1 C G 7: 105,414,759 (GRCm39) G761A probably damaging Het
Dennd5b A G 6: 148,946,277 (GRCm39) Y445H probably damaging Het
Dock1 T A 7: 134,346,743 (GRCm39) L225* probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Dysf A T 6: 84,074,738 (GRCm39) N527I probably damaging Het
Erbb2 A G 11: 98,315,970 (GRCm39) T358A possibly damaging Het
Fhad1 A T 4: 141,655,689 (GRCm39) probably null Het
Ganc T C 2: 120,265,754 (GRCm39) I434T probably damaging Het
Gm5830 T A 1: 78,945,549 (GRCm39) noncoding transcript Het
Gm6096 G T 7: 33,950,484 (GRCm39) E8* probably null Het
Gne A G 4: 44,066,806 (GRCm39) F63S probably benign Het
Gpat2 T C 2: 127,273,902 (GRCm39) V315A possibly damaging Het
Gpr33 A G 12: 52,070,892 (GRCm39) L49P probably damaging Het
Heatr1 C T 13: 12,439,543 (GRCm39) Q1374* probably null Het
Hivep1 A G 13: 42,316,887 (GRCm39) I2032V probably benign Het
Igkv2-112 A C 6: 68,197,450 (GRCm39) I40L probably benign Het
Kcnj10 T A 1: 172,196,726 (GRCm39) F80Y probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Loxhd1 T A 18: 77,483,153 (GRCm39) Y1245N probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Mast1 A G 8: 85,655,635 (GRCm39) S170P possibly damaging Het
Mroh4 A G 15: 74,487,956 (GRCm39) L322P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nudcd3 A T 11: 6,143,475 (GRCm39) V1D probably damaging Het
Pah T A 10: 87,390,238 (GRCm39) L25Q probably damaging Het
Pik3cg A T 12: 32,243,596 (GRCm39) probably null Het
Pira13 A C 7: 3,824,547 (GRCm39) S611A probably benign Het
Plekha6 C A 1: 133,211,058 (GRCm39) S625Y probably damaging Het
Rtn4 T A 11: 29,658,362 (GRCm39) S839T probably damaging Het
Rusc1 A G 3: 88,998,736 (GRCm39) S349P possibly damaging Het
Samsn1 A T 16: 75,742,217 (GRCm39) noncoding transcript Het
Scimp A G 11: 70,691,539 (GRCm39) V30A probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sgip1 A G 4: 102,823,419 (GRCm39) D680G probably damaging Het
Slc44a2 G A 9: 21,259,691 (GRCm39) V613M probably damaging Het
Smpdl3b T C 4: 132,472,489 (GRCm39) T95A probably damaging Het
Spag6l A T 16: 16,610,395 (GRCm39) L85H probably damaging Het
Sucla2 T A 14: 73,806,429 (GRCm39) Y167N possibly damaging Het
Svop G T 5: 114,203,546 (GRCm39) probably benign Het
Tnxb A T 17: 34,918,041 (GRCm39) D2318V probably damaging Het
Trbv14 A G 6: 41,112,332 (GRCm39) D43G probably benign Het
Ubn2 A G 6: 38,499,240 (GRCm39) probably benign Het
Ufsp1 T C 5: 137,293,569 (GRCm39) I173T probably damaging Het
Zbtb40 A G 4: 136,746,072 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGAATGTCCCTGATGTCCTG -3'
(R):5'- GATCCATTGCAGCTAGACTCTG -3'

Sequencing Primer
(F):5'- CCCTGATGTCCTGGAGTGAAAG -3'
(R):5'- AGCTAGACTCTGCCCACC -3'
Posted On 2015-11-11