Incidental Mutation 'IGL01322:Kcnf1'
ID74097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnf1
Ensembl Gene ENSMUSG00000051726
Gene Namepotassium voltage-gated channel, subfamily F, member 1
SynonymsLOC382571
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL01322
Quality Score
Status
Chromosome12
Chromosomal Location17172100-17176888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17175348 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 291 (M291V)
Ref Sequence ENSEMBL: ENSMUSP00000131480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170580]
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: 120,439,199 L368Q probably damaging Het
Abca2 T A 2: 25,446,782 probably null Het
Ano7 T A 1: 93,395,508 V497D probably benign Het
B4gat1 T C 19: 5,040,009 Y345H probably damaging Het
Bckdha T A 7: 25,658,707 R12W possibly damaging Het
Bcl7c T A 7: 127,707,436 N93Y probably damaging Het
Cc2d2a C A 5: 43,689,003 T368K probably benign Het
Chek1 G A 9: 36,718,421 Q210* probably null Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Dph7 T C 2: 24,965,617 S143P possibly damaging Het
Ehbp1 T A 11: 22,089,636 K821N probably damaging Het
Eomes T C 9: 118,484,830 S648P probably benign Het
Fam20a A G 11: 109,682,912 V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 probably null Het
Frem2 A G 3: 53,541,038 V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 V404A probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Klra4 T A 6: 130,062,022 T136S probably benign Het
Mcrs1 A T 15: 99,243,385 I399N probably damaging Het
Neo1 T C 9: 58,907,085 E866G possibly damaging Het
Notch3 T C 17: 32,144,471 D1206G probably damaging Het
Olfr1427 A C 19: 12,099,405 V78G probably benign Het
Olfr1443 A C 19: 12,680,749 I214L probably benign Het
Olfr290 T A 7: 84,916,382 V201E probably damaging Het
Olfr299 T A 7: 86,466,272 I287N probably damaging Het
Olfr479 A G 7: 108,054,981 probably benign Het
Olfr800 A G 10: 129,660,126 T107A probably benign Het
Pnkd A G 1: 74,351,557 N336D probably damaging Het
Prag1 T C 8: 36,103,934 V557A probably benign Het
Ptgfr A C 3: 151,835,686 S62A probably benign Het
Smc2 A G 4: 52,450,842 Y220C probably damaging Het
Sufu G A 19: 46,450,943 E246K probably damaging Het
Sult2a1 T A 7: 13,832,679 R124* probably null Het
Sult4a1 T A 15: 84,086,616 Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 R191W probably damaging Het
Ttn A G 2: 76,942,975 V2361A possibly damaging Het
Usp16 T C 16: 87,466,276 V122A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 H491L possibly damaging Het
Wdpcp T C 11: 21,711,949 L407P probably damaging Het
Zfp157 T C 5: 138,447,578 I65T probably benign Het
Other mutations in Kcnf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02586:Kcnf1 APN 12 17176143 missense probably benign 0.27
R0931:Kcnf1 UTSW 12 17175141 missense possibly damaging 0.89
R1068:Kcnf1 UTSW 12 17175474 missense probably damaging 1.00
R1558:Kcnf1 UTSW 12 17175473 missense probably damaging 1.00
R1571:Kcnf1 UTSW 12 17175852 missense probably benign 0.00
R1607:Kcnf1 UTSW 12 17175732 missense probably benign 0.26
R2471:Kcnf1 UTSW 12 17175530 missense probably damaging 1.00
R4013:Kcnf1 UTSW 12 17175993 missense probably benign 0.01
R4095:Kcnf1 UTSW 12 17175479 missense possibly damaging 0.92
R4980:Kcnf1 UTSW 12 17175011 missense possibly damaging 0.88
R5157:Kcnf1 UTSW 12 17174741 missense probably benign
R6017:Kcnf1 UTSW 12 17175081 missense probably damaging 0.97
R7130:Kcnf1 UTSW 12 17175809 missense probably benign 0.27
R7225:Kcnf1 UTSW 12 17175693 missense possibly damaging 0.47
R7308:Kcnf1 UTSW 12 17174729 missense probably benign 0.13
R7614:Kcnf1 UTSW 12 17174786 missense probably benign 0.03
R7624:Kcnf1 UTSW 12 17176136 missense probably benign
R8510:Kcnf1 UTSW 12 17175938 missense probably damaging 1.00
Posted On2013-10-07