Mutagenetix > Incidental Mutation

Incidental Mutation 'R7308:Kcnf1'

567406

Institutional Source

Beutler Lab

Gene Symbol

Kcnf1

Ensembl Gene

ENSMUSG00000051726

Gene Name

potassium voltage-gated channel, subfamily F, member 1

Synonyms

LOC382571

MMRRC Submission

045323-MU

Accession Numbers

Essential gene?

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

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17222101-17226551 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17224730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 497 (H497L)

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: H497L

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131480
Gene: ENSMUSG00000051726
AA Change: H497L

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: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,022,993 (GRCm39)	I43T	probably benign	Het
Ankar	G	A	1: 72,690,953 (GRCm39)	Q1175*	probably null	Het
Aqr	G	A	2: 113,934,543 (GRCm39)	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 79,862,392 (GRCm39)		probably null	Het
Atf7ip	T	A	6: 136,542,087 (GRCm39)	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,795,464 (GRCm39)		probably benign	Het
Bcar3	T	A	3: 122,302,142 (GRCm39)	V279E	probably benign	Het
Cd96	C	T	16: 45,892,097 (GRCm39)		probably null	Het
Cdca2	G	A	14: 67,932,440 (GRCm39)	P488S	probably benign	Het
Cfhr4	A	G	1: 139,682,041 (GRCm39)	V185A	possibly damaging	Het
Col4a2	T	G	8: 11,456,856 (GRCm39)		probably null	Het
Cyp4a12a	A	G	4: 115,184,955 (GRCm39)	R379G	possibly damaging	Het
Defb34	A	G	8: 19,176,395 (GRCm39)	S29G	probably benign	Het
Dnah11	A	G	12: 117,959,010 (GRCm39)	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,631,596 (GRCm39)	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,206,015 (GRCm39)	H84L	probably benign	Het
Enah	A	T	1: 181,733,950 (GRCm39)		probably null	Het
Fam178b	G	T	1: 36,698,488 (GRCm39)	Q78K	probably benign	Het
Glb1	A	G	9: 114,302,931 (GRCm39)	N589S	probably damaging	Het
Gm1527	C	T	3: 28,956,429 (GRCm39)	H132Y	probably benign	Het
Gm5799	A	G	14: 43,781,164 (GRCm39)	R22G	possibly damaging	Het
Grip2	T	C	6: 91,755,669 (GRCm39)	D617G	possibly damaging	Het
Hax1	A	T	3: 89,905,873 (GRCm39)	D5E	possibly damaging	Het
Hic1	A	G	11: 75,057,977 (GRCm39)	L304P	probably damaging	Het
Hmox1	T	A	8: 75,823,647 (GRCm39)	I105N	probably damaging	Het
Hormad1	T	C	3: 95,469,866 (GRCm39)	S38P	probably damaging	Het
Hspa4	A	G	11: 53,157,930 (GRCm39)	S558P	possibly damaging	Het
Kcnma1	C	T	14: 23,381,003 (GRCm39)	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,790,475 (GRCm39)	F479S	possibly damaging	Het
Krba1	T	C	6: 48,383,273 (GRCm39)	V203A	probably benign	Het
Lct	G	T	1: 128,246,824 (GRCm39)	P233Q	probably benign	Het
Ly75	T	C	2: 60,164,859 (GRCm39)	D773G	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Man1a2	A	T	3: 100,527,421 (GRCm39)	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Myof	A	T	19: 37,899,359 (GRCm39)	S1800R	probably damaging	Het
Nbea	A	C	3: 55,998,452 (GRCm39)	C118W	probably damaging	Het
Nsd3	A	T	8: 26,130,740 (GRCm39)	D35V	probably damaging	Het
Ntaq1	T	C	15: 58,016,006 (GRCm39)	V85A	possibly damaging	Het
Or11g24	G	A	14: 50,662,722 (GRCm39)	V249I	possibly damaging	Het
Or2y1c	G	A	11: 49,360,754 (GRCm39)		probably benign	Het
Pcnx3	C	T	19: 5,736,175 (GRCm39)	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,159,007 (GRCm39)	P462L	probably benign	Het
Pdia5	T	G	16: 35,276,879 (GRCm39)	K96N	probably damaging	Het
Pik3c2a	T	C	7: 115,973,074 (GRCm39)	Y707C	probably damaging	Het
Ppig	A	T	2: 69,579,806 (GRCm39)	N447Y	unknown	Het
Ppp1r9b	T	C	11: 94,895,397 (GRCm39)	L695P	possibly damaging	Het
Proser1	C	T	3: 53,386,125 (GRCm39)	A669V	probably benign	Het
Rdx	A	T	9: 51,980,170 (GRCm39)	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,705,294 (GRCm39)	S95P	probably benign	Het
Slc4a3	T	A	1: 75,534,006 (GRCm39)	S1118T	probably benign	Het
Slf1	G	A	13: 77,199,287 (GRCm39)	P698L	probably benign	Het
Sptbn2	A	G	19: 4,801,602 (GRCm39)	E2338G	probably benign	Het
Taok3	T	A	5: 117,338,216 (GRCm39)	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,816,212 (GRCm39)	L649F	probably damaging	Het
Tdpoz8	A	G	3: 92,981,872 (GRCm39)	T223A	probably benign	Het
Tmem132b	A	T	5: 125,864,710 (GRCm39)	I939F	possibly damaging	Het
Trav17	T	A	14: 54,044,436 (GRCm39)	Y69N	probably benign	Het
Trmt13	T	C	3: 116,388,388 (GRCm39)	D16G	probably benign	Het
Upf2	T	A	2: 5,978,329 (GRCm39)	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875 (GRCm39)	T180A	probably benign	Het
Zfp738	A	T	13: 67,817,672 (GRCm39)	I773N	probably benign	Het
Zscan4e	A	T	7: 11,041,080 (GRCm39)	M264K	probably benign	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
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'- CAAGGAGTCTTACCCAGTCTTG -3'
(R):5'- TACAACAAACAACGTGTCCTGG -3'

Sequencing Primer
(F):5'- TTACCCAGTCTTGGCAAAGG -3'
(R):5'- GACGGCAGCCAAGCATG -3'

Posted On

2019-06-26