Incidental Mutation 'R2152:Kcnab1'
ID 234353
Institutional Source Beutler Lab
Gene Symbol Kcnab1
Ensembl Gene ENSMUSG00000027827
Gene Name potassium voltage-gated channel, shaker-related subfamily, beta member 1
Synonyms Kvbeta1.1, mKv(beta)1, Akr8a8
MMRRC Submission 040155-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R2152 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 65109384-65378223 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65371440 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 371 (I371F)
Ref Sequence ENSEMBL: ENSMUSP00000047480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049230]
AlphaFold P63143
Predicted Effect probably damaging
Transcript: ENSMUST00000049230
AA Change: I371F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: I371F

Pfam:Aldo_ket_red 85 390 1.8e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161404
SMART Domains Protein: ENSMUSP00000125578
Gene: ENSMUSG00000027827

Pfam:Aldo_ket_red 1 284 4e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161979
SMART Domains Protein: ENSMUSP00000125050
Gene: ENSMUSG00000027827

Pfam:Aldo_ket_red 50 355 1.2e-73 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some learning defects but are otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T A 17: 33,066,934 (GRCm38) D298V probably damaging Het
Ackr3 A T 1: 90,213,843 (GRCm38) Y8F probably benign Het
Acy1 T C 9: 106,435,617 (GRCm38) E175G probably damaging Het
Add2 T C 6: 86,098,598 (GRCm38) L243P probably damaging Het
Adsl A G 15: 80,967,662 (GRCm38) D407G probably damaging Het
Afg3l1 T G 8: 123,494,836 (GRCm38) I478S probably damaging Het
Arfrp1 T C 2: 181,359,694 (GRCm38) T108A probably benign Het
Art5 A G 7: 102,098,200 (GRCm38) L124P possibly damaging Het
Asap2 A T 12: 21,112,083 (GRCm38) T14S probably damaging Het
Atp2c2 A G 8: 119,756,102 (GRCm38) N901S probably benign Het
Bbs12 G T 3: 37,321,160 (GRCm38) E586* probably null Het
Bicd2 G T 13: 49,379,576 (GRCm38) C546F probably damaging Het
Bid A T 6: 120,900,254 (GRCm38) L42Q probably damaging Het
Bpifb9a A G 2: 154,260,135 (GRCm38) K51E probably benign Het
Calcr G T 6: 3,687,615 (GRCm38) T424K probably benign Het
Cd46 A G 1: 195,062,413 (GRCm38) I339T probably benign Het
Chek1 C A 9: 36,723,983 (GRCm38) V35F probably damaging Het
Cntn3 A G 6: 102,206,537 (GRCm38) I719T probably damaging Het
Cyb5r1 T C 1: 134,409,625 (GRCm38) I163T possibly damaging Het
Cyp2d26 A T 15: 82,792,706 (GRCm38) probably null Het
Dclk1 A G 3: 55,247,212 (GRCm38) Y21C probably damaging Het
Dgcr2 G A 16: 17,891,487 (GRCm38) probably null Het
Dhx38 T C 8: 109,560,674 (GRCm38) S221G probably benign Het
Dis3l T A 9: 64,307,263 (GRCm38) N981I probably benign Het
Dnah3 C T 7: 119,952,013 (GRCm38) V3028I probably benign Het
Dnah6 T C 6: 73,049,166 (GRCm38) Y3448C probably benign Het
Dok5 G A 2: 170,800,896 (GRCm38) G38D probably damaging Het
Doxl2 T A 6: 48,976,539 (GRCm38) I466N probably damaging Het
Epb41l1 A G 2: 156,514,128 (GRCm38) D528G probably damaging Het
Fat4 A T 3: 38,983,395 (GRCm38) Y3732F probably damaging Het
Fgfr4 A T 13: 55,166,964 (GRCm38) Y640F probably damaging Het
Foxo6 T A 4: 120,268,614 (GRCm38) D328V probably benign Het
Foxp1 A G 6: 99,016,541 (GRCm38) L134P probably damaging Het
Frem2 G A 3: 53,517,029 (GRCm38) R2996* probably null Het
Fuk T A 8: 110,889,072 (GRCm38) T542S probably benign Het
Garem2 T C 5: 30,108,299 (GRCm38) S54P probably damaging Het
Gcn1l1 T A 5: 115,609,829 (GRCm38) I1765N probably benign Het
Gm4787 T A 12: 81,377,219 (GRCm38) I722F probably benign Het
Gpc6 G T 14: 116,926,092 (GRCm38) A53S probably benign Het
Gtpbp8 A G 16: 44,740,027 (GRCm38) probably null Het
H2-Q2 T C 17: 35,345,276 (GRCm38) probably null Het
Hapln2 C A 3: 88,023,613 (GRCm38) R157L probably benign Het
Hemgn C A 4: 46,396,607 (GRCm38) E210* probably null Het
Hpse T A 5: 100,691,403 (GRCm38) K360* probably null Het
Iqcj A T 3: 68,055,310 (GRCm38) E68V probably damaging Het
Kat2a T C 11: 100,712,346 (GRCm38) probably benign Het
Kat6b A T 14: 21,668,667 (GRCm38) H1138L probably benign Het
Klhl30 C A 1: 91,357,824 (GRCm38) A356D probably benign Het
Klra3 G C 6: 130,333,144 (GRCm38) R138G probably benign Het
Mgea5 A T 19: 45,758,022 (GRCm38) Y779* probably null Het
Micu1 G T 10: 59,863,288 (GRCm38) M468I probably benign Het
Mrc1 A G 2: 14,327,864 (GRCm38) T1292A probably damaging Het
Myh8 G A 11: 67,294,469 (GRCm38) E849K probably damaging Het
Myom3 G T 4: 135,803,233 (GRCm38) R1152L probably benign Het
Nedd4l T A 18: 65,210,330 (GRCm38) H820Q probably damaging Het
Nlrp4g T A 9: 124,353,339 (GRCm38) noncoding transcript Het
Olfr1339 C T 4: 118,735,249 (GRCm38) A240V possibly damaging Het
Olfr1413 T C 1: 92,573,908 (GRCm38) S246P probably damaging Het
Olfr24 T C 9: 18,755,095 (GRCm38) D180G probably damaging Het
Olfr33 G T 7: 102,713,581 (GRCm38) H277Q probably benign Het
Olfr435 A G 6: 43,202,069 (GRCm38) I142V probably benign Het
Olfr592 A T 7: 103,186,640 (GRCm38) D13V probably benign Het
Olfr913 G T 9: 38,594,411 (GRCm38) L63F probably damaging Het
Olfr969 A T 9: 39,795,647 (GRCm38) I91F probably benign Het
Otop1 T A 5: 38,302,851 (GRCm38) M587K probably damaging Het
Pgm5 T A 19: 24,834,815 (GRCm38) I118F probably damaging Het
Phc2 A G 4: 128,745,066 (GRCm38) *41W probably null Het
Piezo2 A T 18: 63,114,041 (GRCm38) M532K probably damaging Het
Pjvk A T 2: 76,658,369 (GRCm38) I295F probably benign Het
Popdc2 A G 16: 38,363,120 (GRCm38) N155S possibly damaging Het
Ppp4r3a G T 12: 101,042,567 (GRCm38) N684K probably damaging Het
Prpf4b T A 13: 34,900,419 (GRCm38) M930K probably benign Het
Ptpn12 C A 5: 21,002,468 (GRCm38) Q297H probably damaging Het
Ptprz1 C A 6: 23,030,671 (GRCm38) L1010I probably damaging Het
Rabepk A T 2: 34,784,550 (GRCm38) D232E possibly damaging Het
Rad51ap2 A G 12: 11,457,985 (GRCm38) H636R probably benign Het
Rb1 T C 14: 73,288,725 (GRCm38) T169A probably benign Het
Rcc2 T C 4: 140,717,117 (GRCm38) L373P probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Rrbp1 A G 2: 143,954,198 (GRCm38) L1200P possibly damaging Het
Sdk1 A G 5: 141,792,944 (GRCm38) N226D probably damaging Het
Selenbp1 G A 3: 94,944,130 (GRCm38) R398H probably damaging Het
Selenoo A G 15: 89,099,282 (GRCm38) M509V probably benign Het
Sidt2 T C 9: 45,945,340 (GRCm38) D477G probably damaging Het
Slc2a5 T G 4: 150,125,638 (GRCm38) S27A probably damaging Het
Slc30a5 A T 13: 100,803,949 (GRCm38) H619Q probably damaging Het
Slc5a9 A G 4: 111,893,223 (GRCm38) I146T possibly damaging Het
Slc6a1 G T 6: 114,307,770 (GRCm38) G263V probably damaging Het
Slmap A G 14: 26,418,247 (GRCm38) Y771H probably damaging Het
Snx29 A G 16: 11,400,843 (GRCm38) D181G possibly damaging Het
Spata31d1c G A 13: 65,033,965 (GRCm38) probably null Het
Stat5a C A 11: 100,874,090 (GRCm38) T213N probably benign Het
Stt3a A T 9: 36,747,996 (GRCm38) V349D probably damaging Het
Tcf20 A T 15: 82,855,602 (GRCm38) D549E probably damaging Het
Thbs2 T A 17: 14,673,209 (GRCm38) D903V probably damaging Het
Tln2 T C 9: 67,302,560 (GRCm38) T432A probably damaging Het
Tmc1 A T 19: 20,856,675 (GRCm38) N241K probably benign Het
Tmem260 G T 14: 48,477,609 (GRCm38) R240L possibly damaging Het
Tnfaip6 A T 2: 52,043,730 (GRCm38) E32D probably damaging Het
Trpa1 A T 1: 14,899,401 (GRCm38) H381Q probably damaging Het
Tsen2 T C 6: 115,547,975 (GRCm38) I45T possibly damaging Het
Ttc6 G A 12: 57,705,552 (GRCm38) V1415I probably damaging Het
Ttll7 G T 3: 146,930,189 (GRCm38) R426L probably damaging Het
Ttn A C 2: 76,740,138 (GRCm38) S26804A probably damaging Het
Ubqlnl A T 7: 104,148,683 (GRCm38) C536S probably benign Het
Vmn2r73 A G 7: 85,857,728 (GRCm38) V792A probably benign Het
Zfp345 T C 2: 150,472,658 (GRCm38) T320A probably benign Het
Zfp407 T C 18: 84,209,649 (GRCm38) D1945G possibly damaging Het
Other mutations in Kcnab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Kcnab1 APN 3 65,319,454 (GRCm38) missense probably damaging 1.00
IGL01936:Kcnab1 APN 3 65,358,274 (GRCm38) missense probably damaging 1.00
IGL02291:Kcnab1 APN 3 65,357,082 (GRCm38) missense possibly damaging 0.94
IGL02425:Kcnab1 APN 3 65,302,179 (GRCm38) missense possibly damaging 0.59
PIT4418001:Kcnab1 UTSW 3 65,358,320 (GRCm38) missense probably benign 0.12
R0017:Kcnab1 UTSW 3 65,357,106 (GRCm38) missense probably damaging 0.98
R0017:Kcnab1 UTSW 3 65,357,106 (GRCm38) missense probably damaging 0.98
R0811:Kcnab1 UTSW 3 65,297,720 (GRCm38) missense probably damaging 1.00
R0812:Kcnab1 UTSW 3 65,297,720 (GRCm38) missense probably damaging 1.00
R1847:Kcnab1 UTSW 3 65,302,194 (GRCm38) critical splice donor site probably null
R1926:Kcnab1 UTSW 3 65,376,512 (GRCm38) missense possibly damaging 0.73
R2064:Kcnab1 UTSW 3 65,364,639 (GRCm38) missense probably benign 0.07
R2153:Kcnab1 UTSW 3 65,371,440 (GRCm38) missense probably damaging 0.99
R2197:Kcnab1 UTSW 3 65,109,947 (GRCm38) missense probably benign 0.00
R2233:Kcnab1 UTSW 3 65,319,467 (GRCm38) missense probably damaging 1.00
R2235:Kcnab1 UTSW 3 65,319,467 (GRCm38) missense probably damaging 1.00
R2437:Kcnab1 UTSW 3 65,357,014 (GRCm38) splice site probably benign
R3916:Kcnab1 UTSW 3 65,304,164 (GRCm38) critical splice donor site probably null
R4093:Kcnab1 UTSW 3 65,299,614 (GRCm38) missense possibly damaging 0.96
R4347:Kcnab1 UTSW 3 65,297,475 (GRCm38) intron probably benign
R4796:Kcnab1 UTSW 3 65,304,165 (GRCm38) critical splice donor site probably null
R5588:Kcnab1 UTSW 3 65,376,555 (GRCm38) missense possibly damaging 0.59
R7254:Kcnab1 UTSW 3 65,319,487 (GRCm38) missense probably benign 0.08
R7347:Kcnab1 UTSW 3 65,376,531 (GRCm38) missense probably benign 0.07
R7424:Kcnab1 UTSW 3 65,266,503 (GRCm38) missense possibly damaging 0.80
Z1177:Kcnab1 UTSW 3 65,357,133 (GRCm38) missense probably benign 0.08
Z1177:Kcnab1 UTSW 3 65,266,510 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-01