Mutagenetix > Incidental Mutation

Incidental Mutation 'R1571:Kcnf1'

186224

Institutional Source

Beutler Lab

Gene Symbol

Kcnf1

Ensembl Gene

ENSMUSG00000051726

Gene Name

potassium voltage-gated channel, subfamily F, member 1

Synonyms

LOC382571

MMRRC Submission

039610-MU

Accession Numbers

Essential gene?

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

Stock #

R1571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17222101-17226551 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17225853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 123 (N123D)

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: N123D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000131480
Gene: ENSMUSG00000051726
AA Change: N123D

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	G	5: 114,961,372 (GRCm39)		probably null	Het
Abcd3	T	C	3: 121,586,491 (GRCm39)	I70V	possibly damaging	Het
Acad10	T	C	5: 121,759,411 (GRCm39)	Y1024C	probably damaging	Het
Atp2b3	T	G	X: 72,588,712 (GRCm39)	V701G	probably damaging	Het
Cbfa2t2	T	A	2: 154,342,347 (GRCm39)	M21K	probably damaging	Het
Cdc25a	C	T	9: 109,710,614 (GRCm39)	T106I	possibly damaging	Het
Cdhr5	T	C	7: 140,852,083 (GRCm39)	T190A	probably damaging	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Clcn6	T	C	4: 148,097,226 (GRCm39)	T614A	possibly damaging	Het
Cntln	A	T	4: 84,865,823 (GRCm39)	R160*	probably null	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dock3	C	A	9: 106,815,158 (GRCm39)	M1236I	possibly damaging	Het
Eif4g3	T	A	4: 137,847,719 (GRCm39)	H213Q	probably damaging	Het
Eya1	T	A	1: 14,279,141 (GRCm39)	H372L	probably damaging	Het
Fam13b	A	G	18: 34,630,485 (GRCm39)	V91A	possibly damaging	Het
Hat1	T	A	2: 71,264,519 (GRCm39)	I319K	probably benign	Het
Kcns3	C	A	12: 11,141,551 (GRCm39)	G383W	probably damaging	Het
Kprp	A	T	3: 92,732,689 (GRCm39)	C120*	probably null	Het
Lama3	T	A	18: 12,672,774 (GRCm39)	C2456S	probably damaging	Het
Lrp1b	A	T	2: 41,366,658 (GRCm39)	D539E	probably damaging	Het
Matn3	T	C	12: 9,005,466 (GRCm39)	L292S	probably damaging	Het
Mbd3l1	T	A	9: 18,395,947 (GRCm39)	I24N	probably damaging	Het
Med10	T	C	13: 69,958,159 (GRCm39)	L37P	probably damaging	Het
Mrc1	A	T	2: 14,313,544 (GRCm39)	H925L	probably damaging	Het
Myo15a	T	A	11: 60,409,290 (GRCm39)	I3219N	probably damaging	Het
Nom1	C	T	5: 29,647,633 (GRCm39)	Q623*	probably null	Het
Nrm	T	A	17: 36,175,079 (GRCm39)	W136R	probably damaging	Het
Or8h8	A	C	2: 86,753,789 (GRCm39)	V29G	probably benign	Het
Pde7b	T	C	10: 20,288,836 (GRCm39)	N298S	probably benign	Het
Piezo2	C	T	18: 63,277,990 (GRCm39)	A305T	possibly damaging	Het
Pimreg	T	C	11: 71,936,042 (GRCm39)	L175P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,390,237 (GRCm39)	D1451G	probably benign	Het
Ptpro	A	G	6: 137,355,128 (GRCm39)	S212G	probably benign	Het
Rhpn1	C	T	15: 75,585,967 (GRCm39)	R627C	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnase4	T	G	14: 51,342,497 (GRCm39)	F74V	probably damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Selp	T	C	1: 163,954,176 (GRCm39)	Y159H	probably damaging	Het
Senp6	A	G	9: 80,000,853 (GRCm39)	T21A	probably damaging	Het
Slco1a7	A	T	6: 141,700,135 (GRCm39)	C132*	probably null	Het
Slco3a1	T	C	7: 74,154,128 (GRCm39)	D148G	possibly damaging	Het
Smtn	G	A	11: 3,480,102 (GRCm39)	P373L	probably benign	Het
Snx20	A	T	8: 89,356,597 (GRCm39)	L73Q	probably damaging	Het
Sobp	A	G	10: 43,033,942 (GRCm39)	V128A	possibly damaging	Het
Tcerg1	A	G	18: 42,657,357 (GRCm39)	T280A	unknown	Het
Tgfbrap1	A	G	1: 43,088,973 (GRCm39)	V810A	probably benign	Het
Thbs1	C	A	2: 117,949,678 (GRCm39)	D589E	probably damaging	Het
Tjp2	A	G	19: 24,078,239 (GRCm39)	Y885H	probably damaging	Het
Tmem109	A	G	19: 10,849,993 (GRCm39)	S100P	probably damaging	Het
Trim36	T	C	18: 46,305,562 (GRCm39)	K462E	probably benign	Het
Vmn1r226	A	T	17: 20,908,538 (GRCm39)	I257F	probably damaging	Het
Vmn2r92	A	G	17: 18,372,352 (GRCm39)	Y54C	probably damaging	Het
Wdcp	T	A	12: 4,901,924 (GRCm39)	Y593*	probably null	Het
Wdr59	T	C	8: 112,177,682 (GRCm39)	S907G	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
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

Predicted Primers

PCR Primer
(F):5'- TCCGGCTTCTCTAGGAACTTCCAG -3'
(R):5'- TGGACGCATCTGCTGAGCAAAG -3'

Sequencing Primer
(F):5'- TTCCAGACACACTTCTGGCAG -3'
(R):5'- TCTGCTGAGCAAAGCCTCC -3'

Posted On

2014-05-09