Incidental Mutation 'IGL01322:Kcnf1'
ID 74097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnf1
Ensembl Gene ENSMUSG00000051726
Gene Name potassium voltage-gated channel, subfamily F, member 1
Synonyms LOC382571
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL01322
Quality Score
Status
Chromosome 12
Chromosomal Location 17222101-17226551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17225349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 291 (M291V)
Ref Sequence ENSEMBL: ENSMUSP00000131480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170580]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000170580
AA Change: M291V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131480
Gene: ENSMUSG00000051726
AA Change: M291V

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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Kcnf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4095:Kcnf1 UTSW 12 17,225,480 (GRCm39) missense possibly damaging 0.92
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
Posted On 2013-10-07