Mutagenetix > Incidental Mutation

Incidental Mutation 'R8990:Kcnf1'

684370

Institutional Source

Beutler Lab

Gene Symbol

Kcnf1

Ensembl Gene

ENSMUSG00000051726

Gene Name

potassium voltage-gated channel, subfamily F, member 1

Synonyms

LOC382571

MMRRC Submission

068822-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R8990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17222101-17226551 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17225336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 295 (T295I)

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: T295I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131480
Gene: ENSMUSG00000051726
AA Change: T295I

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,494 (GRCm39)	V731M		Het
Ank2	A	G	3: 126,841,829 (GRCm39)		probably null	Het
Ano8	G	C	8: 71,929,201 (GRCm39)	P1004R	unknown	Het
Aopep	G	A	13: 63,304,428 (GRCm39)	C480Y	probably damaging	Het
Asnsd1	C	T	1: 53,385,901 (GRCm39)	G491D	probably damaging	Het
Atp6v1c2	A	G	12: 17,341,647 (GRCm39)	V248A	probably benign	Het
BC035947	C	T	1: 78,475,486 (GRCm39)	V349M	probably damaging	Het
Bcl2l14	A	G	6: 134,400,630 (GRCm39)	D17G	probably damaging	Het
Bltp1	T	C	3: 36,975,370 (GRCm39)	S681P	possibly damaging	Het
Cbs	T	C	17: 31,834,523 (GRCm39)	T489A	probably benign	Het
Ccdc66	T	C	14: 27,208,655 (GRCm39)	K533R	probably benign	Het
Cenpx	A	G	11: 120,602,591 (GRCm39)	F53S	unknown	Het
Col4a4	A	G	1: 82,473,555 (GRCm39)	S657P	unknown	Het
Csnk2a1	A	G	2: 152,096,177 (GRCm39)	Y50C	probably damaging	Het
Ddx60	C	T	8: 62,427,168 (GRCm39)	R748*	probably null	Het
Diaph1	A	T	18: 37,988,857 (GRCm39)	L959H	probably damaging	Het
Dnaaf5	T	G	5: 139,155,951 (GRCm39)	L544R	probably damaging	Het
Dnah10	A	G	5: 124,814,057 (GRCm39)	D399G		Het
Eif2b4	T	C	5: 31,347,971 (GRCm39)	E247G	probably benign	Het
Fmnl2	T	C	2: 53,016,971 (GRCm39)	I1050T	unknown	Het
Gm10272	T	A	10: 77,542,658 (GRCm39)	S67T	probably damaging	Het
Gm32742	G	A	9: 51,058,802 (GRCm39)	P1072S	probably damaging	Het
Hdac11	T	A	6: 91,145,799 (GRCm39)	L151*	probably null	Het
Iars1	A	G	13: 49,841,752 (GRCm39)	D80G	possibly damaging	Het
Kazn	T	C	4: 141,868,947 (GRCm39)	D413G	probably damaging	Het
Kcnc1	T	A	7: 46,077,733 (GRCm39)	*512R	probably null	Het
Klhl9	A	G	4: 88,640,205 (GRCm39)	V12A	probably benign	Het
Klk6	T	A	7: 43,476,254 (GRCm39)	H31Q	probably benign	Het
Ldhal6b	A	T	17: 5,468,020 (GRCm39)	S305T	probably damaging	Het
Lta4h	C	A	10: 93,314,315 (GRCm39)	D462E	probably damaging	Het
Ly75	T	G	2: 60,188,903 (GRCm39)	R274S	probably benign	Het
Mideas	T	C	12: 84,218,380 (GRCm39)	T527A	probably benign	Het
Mn1	A	G	5: 111,566,381 (GRCm39)	N117S	possibly damaging	Het
Mrgprd	T	C	7: 144,875,915 (GRCm39)	V262A	probably benign	Het
Mtres1	A	G	10: 43,401,233 (GRCm39)	S239P	unknown	Het
Muc4	C	A	16: 32,574,009 (GRCm39)	H696N	probably benign	Het
Nlrp3	A	T	11: 59,439,584 (GRCm39)	Q387L	probably damaging	Het
Nme7	A	G	1: 164,155,902 (GRCm39)	D34G	probably damaging	Het
Ntrk2	T	A	13: 59,007,988 (GRCm39)	L250*	probably null	Het
Or13p8	T	C	4: 118,584,224 (GRCm39)	V260A	probably benign	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pcdh7	A	G	5: 57,879,364 (GRCm39)	D973G	probably benign	Het
Pced1a	A	G	2: 130,264,471 (GRCm39)	Y120H	probably damaging	Het
Pira13	T	A	7: 3,824,273 (GRCm39)	T627S	unknown	Het
Pkhd1	A	G	1: 20,417,529 (GRCm39)	S2541P	probably benign	Het
Ptcd1	A	G	5: 145,102,047 (GRCm39)	S91P	probably damaging	Het
R3hdm1	C	T	1: 128,106,833 (GRCm39)	R229C	probably damaging	Het
Sectm1a	G	T	11: 120,960,701 (GRCm39)	T38K	probably damaging	Het
Serpinb2	A	T	1: 107,450,428 (GRCm39)	I142F	probably damaging	Het
Slc25a39	A	T	11: 102,295,895 (GRCm39)	V112E	possibly damaging	Het
Snap23	G	T	2: 120,415,516 (GRCm39)		probably benign	Het
Sp8	T	A	12: 118,813,122 (GRCm39)	Y326N	possibly damaging	Het
Speer4c2	G	A	5: 15,858,598 (GRCm39)	R141C	probably benign	Het
Spock1	A	T	13: 57,843,984 (GRCm39)		probably null	Het
Trpc2	T	C	7: 101,745,195 (GRCm39)	Y804H	probably benign	Het
Trpc7	T	C	13: 56,952,485 (GRCm39)	N562S	possibly damaging	Het
Trpm6	G	A	19: 18,792,799 (GRCm39)	G741E	probably damaging	Het
Vmn1r160	T	A	7: 22,570,759 (GRCm39)	H37Q	probably damaging	Het
Vmn1r174	G	T	7: 23,453,956 (GRCm39)	M207I	possibly damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het

Other mutations in Kcnf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9015:Kcnf1	UTSW	12	17,225,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCAGGATGGCTCTGCTC -3'
(R):5'- TACCATACCCGAGCTGCAAG -3'

Sequencing Primer
(F):5'- TCCATGGTGTAGCCCAGTG -3'
(R):5'- ATACCCGAGCTGCAAGTGGTG -3'

Posted On

2021-10-11