Incidental Mutation 'R4095:Kcnf1'
ID 317870
Institutional Source Beutler Lab
Gene Symbol Kcnf1
Ensembl Gene ENSMUSG00000051726
Gene Name potassium voltage-gated channel, subfamily F, member 1
Synonyms LOC382571
MMRRC Submission 040858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R4095 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 17222101-17226551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17225480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 247 (L247Q)
Ref Sequence ENSEMBL: ENSMUSP00000131480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170580]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000170580
AA Change: L247Q

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131480
Gene: ENSMUSG00000051726
AA Change: L247Q

DomainStartEndE-ValueType
BTB 33 147 2.32e-2 SMART
Pfam:Ion_trans 193 429 1.3e-49 PFAM
Pfam:Ion_trans_2 337 423 3.4e-14 PFAM
Meta Mutation Damage Score 0.4062 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 97% (59/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A T 12: 53,186,245 (GRCm39) I1220L probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Apba1 A T 19: 23,921,388 (GRCm39) Q737L probably benign Het
Arvcf T A 16: 18,220,327 (GRCm39) D564E probably damaging Het
Bcl11b G T 12: 107,883,094 (GRCm39) P335Q probably damaging Het
Brd9 G A 13: 74,092,918 (GRCm39) V302I probably benign Het
Brinp3 C A 1: 146,777,430 (GRCm39) H626N possibly damaging Het
C1qc T C 4: 136,617,637 (GRCm39) N153S probably benign Het
Casp3 G A 8: 47,087,251 (GRCm39) G66D probably damaging Het
Coq7 T G 7: 118,126,701 (GRCm39) probably null Het
Dach1 C T 14: 98,138,815 (GRCm39) V491M possibly damaging Het
Dda1 A G 8: 71,926,436 (GRCm39) T52A possibly damaging Het
Entpd7 A G 19: 43,692,640 (GRCm39) Y65C probably damaging Het
Fmnl2 A G 2: 52,991,535 (GRCm39) D350G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Gbp2 A G 3: 142,343,210 (GRCm39) T576A probably benign Het
Gm15446 T A 5: 110,088,590 (GRCm39) probably null Het
Gtf2a1 G T 12: 91,542,411 (GRCm39) T57K possibly damaging Het
Hps5 T C 7: 46,425,218 (GRCm39) E494G probably benign Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Hydin A G 8: 111,268,179 (GRCm39) N2886S probably damaging Het
Ighv2-6-8 T C 12: 113,759,773 (GRCm39) Y112C probably damaging Het
Kndc1 A G 7: 139,516,938 (GRCm39) M1606V possibly damaging Het
Krt27 T C 11: 99,236,619 (GRCm39) T431A probably benign Het
Lama4 A T 10: 38,973,118 (GRCm39) I1562F probably damaging Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp1b G A 2: 41,339,203 (GRCm39) T880I probably benign Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Mapt T C 11: 104,201,362 (GRCm39) probably null Het
Mpdz A T 4: 81,302,060 (GRCm39) V229D possibly damaging Het
Or10am5 T A 7: 6,518,252 (GRCm39) S59C possibly damaging Het
Or6e1 T C 14: 54,520,188 (GRCm39) T55A probably benign Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Parm1 T C 5: 91,742,039 (GRCm39) S136P probably benign Het
Pcdhgb2 T A 18: 37,824,003 (GRCm39) S331R probably benign Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Rell1 C A 5: 64,126,013 (GRCm39) V22L probably benign Het
Sema6c T A 3: 95,080,505 (GRCm39) L901Q probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a23 A G 13: 34,489,189 (GRCm39) L116P probably damaging Het
Slit1 A T 19: 41,596,925 (GRCm39) probably benign Het
Spns1 T C 7: 125,969,958 (GRCm39) T481A probably damaging Het
Tmem104 T A 11: 115,134,749 (GRCm39) Y427* probably null Het
Tmem74 G A 15: 43,730,678 (GRCm39) Q122* probably null Het
Tnpo2 T A 8: 85,765,048 (GRCm39) L10Q probably damaging Het
Trav6-2 G T 14: 52,905,272 (GRCm39) A98S probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Ube2b A C 11: 51,888,654 (GRCm39) V39G possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Wnk1 G A 6: 119,925,087 (GRCm39) T1459I probably damaging Het
Zc3h7a T C 16: 10,963,099 (GRCm39) K754R probably damaging Het
Zfp605 A G 5: 110,275,602 (GRCm39) K240R probably damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null Het
Other mutations in Kcnf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Kcnf1 APN 12 17,225,349 (GRCm39) missense probably benign 0.00
IGL02586:Kcnf1 APN 12 17,226,144 (GRCm39) missense probably benign 0.27
R0931:Kcnf1 UTSW 12 17,225,142 (GRCm39) missense possibly damaging 0.89
R1068:Kcnf1 UTSW 12 17,225,475 (GRCm39) missense probably damaging 1.00
R1558:Kcnf1 UTSW 12 17,225,474 (GRCm39) missense probably damaging 1.00
R1571:Kcnf1 UTSW 12 17,225,853 (GRCm39) missense probably benign 0.00
R1607:Kcnf1 UTSW 12 17,225,733 (GRCm39) missense probably benign 0.26
R2471:Kcnf1 UTSW 12 17,225,531 (GRCm39) missense probably damaging 1.00
R4013:Kcnf1 UTSW 12 17,225,994 (GRCm39) missense probably benign 0.01
R4980:Kcnf1 UTSW 12 17,225,012 (GRCm39) missense possibly damaging 0.88
R5157:Kcnf1 UTSW 12 17,224,742 (GRCm39) missense probably benign
R6017:Kcnf1 UTSW 12 17,225,082 (GRCm39) missense probably damaging 0.97
R7130:Kcnf1 UTSW 12 17,225,810 (GRCm39) missense probably benign 0.27
R7225:Kcnf1 UTSW 12 17,225,694 (GRCm39) missense possibly damaging 0.47
R7308:Kcnf1 UTSW 12 17,224,730 (GRCm39) missense probably benign 0.13
R7614:Kcnf1 UTSW 12 17,224,787 (GRCm39) missense probably benign 0.03
R7624:Kcnf1 UTSW 12 17,226,137 (GRCm39) missense probably benign
R8510:Kcnf1 UTSW 12 17,225,939 (GRCm39) missense probably damaging 1.00
R8990:Kcnf1 UTSW 12 17,225,336 (GRCm39) missense probably benign 0.10
R9015:Kcnf1 UTSW 12 17,225,303 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAGTTTGAAGATGCGTG -3'
(R):5'- TTCCTAGAGAAGCCGGAGTC -3'

Sequencing Primer
(F):5'- ATGCGCATGATCCTCAGG -3'
(R):5'- CCTAGAGAAGCCGGAGTCTTCATG -3'
Posted On 2015-05-15