Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Kcna7'

452888

Institutional Source

Beutler Lab

Gene Symbol

Kcna7

Ensembl Gene

ENSMUSG00000038201

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 7

Synonyms

Kv1.7

MMRRC Submission

042615-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45055077-45059187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45056015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 77 (R77H)

Ref Sequence

ENSEMBL: ENSMUSP00000103403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107774]

AlphaFold

Q17ST2

Predicted Effect

probably damaging
Transcript: ENSMUST00000107774
AA Change: R77H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103403
Gene: ENSMUSG00000038201
AA Change: R77H

Domain	Start	End	E-Value	Type
BTB	45	145	1.77e-7	SMART
Pfam:Ion_trans	174	438	1.7e-52	PFAM
Pfam:Ion_trans_2	346	432	1.7e-13	PFAM
low complexity region	471	480	N/A	INTRINSIC

Meta Mutation Damage Score

0.3851

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,248,959 (GRCm39)	N575S	probably damaging	Het
Akap6	C	T	12: 53,189,345 (GRCm39)	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,639,511 (GRCm39)	N289K	probably damaging	Het
Atad2b	A	C	12: 4,987,534 (GRCm39)	T121P	probably benign	Het
Atp4a	A	C	7: 30,415,289 (GRCm39)	D303A	possibly damaging	Het
Calu	A	T	6: 29,374,518 (GRCm39)		probably benign	Het
Ccdc141	A	C	2: 76,885,047 (GRCm39)	N531K	probably benign	Het
Ccdc146	T	C	5: 21,604,612 (GRCm39)		probably null	Het
Cd207	G	A	6: 83,651,301 (GRCm39)	T218I	probably damaging	Het
Cd2ap	A	C	17: 43,116,236 (GRCm39)		probably null	Het
Ceacam23	A	G	7: 17,644,607 (GRCm39)	I575V	probably benign	Het
Clip3	G	A	7: 29,991,644 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,751 (GRCm39)	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,215,141 (GRCm39)	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,955,070 (GRCm39)	E2033V	probably damaging	Het
Eng	T	G	2: 32,563,404 (GRCm39)	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296 (GRCm39)	W57*	probably null	Het
Etv1	T	A	12: 38,904,233 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam221b	T	A	4: 43,659,674 (GRCm39)	N482I	probably damaging	Het
Fam83h	T	C	15: 75,876,991 (GRCm39)	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,008,403 (GRCm39)	T449A	probably benign	Het
Fbxw25	A	T	9: 109,492,442 (GRCm39)		probably null	Het
Frmd3	T	A	4: 74,016,381 (GRCm39)	S99T	probably benign	Het
Gm5174	G	T	10: 86,492,451 (GRCm39)		noncoding transcript	Het
Gm815	C	T	19: 26,865,175 (GRCm39)	Q49*	probably null	Het
H2-DMa	A	T	17: 34,357,461 (GRCm39)	I245F	possibly damaging	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,463,661 (GRCm39)		probably null	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,556,439 (GRCm39)	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,681,657 (GRCm39)	H33N	probably benign	Het
Il6	T	C	5: 30,224,512 (GRCm39)	L184P	probably damaging	Het
Impg2	T	A	16: 56,080,463 (GRCm39)	S756T	probably damaging	Het
Insyn2a	A	G	7: 134,520,207 (GRCm39)	S108P	probably damaging	Het
Kank4	T	G	4: 98,673,898 (GRCm39)	D5A	probably damaging	Het
Kcns2	A	T	15: 34,839,683 (GRCm39)	T349S	probably benign	Het
Keap1	A	G	9: 21,148,522 (GRCm39)	Y162H	probably damaging	Het
Kif9	T	C	9: 110,312,161 (GRCm39)	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,476,809 (GRCm39)	T257A	probably damaging	Het
Lpin1	A	T	12: 16,604,007 (GRCm39)	L608Q	probably benign	Het
Lyst	T	C	13: 13,808,989 (GRCm39)	S220P	probably benign	Het
M1ap	A	G	6: 83,005,339 (GRCm39)		probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Myo5b	A	T	18: 74,849,105 (GRCm39)	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,839,253 (GRCm39)	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155 (GRCm38)		noncoding transcript	Het
Odad2	T	C	18: 7,088,555 (GRCm39)	M1005V	probably benign	Het
Or14c39	A	T	7: 86,344,089 (GRCm39)	M142L	probably benign	Het
Or2ak5	T	A	11: 58,611,776 (GRCm39)	I33F	probably benign	Het
Or5al6	G	T	2: 85,976,877 (GRCm39)	A67E	probably damaging	Het
Or8j3c	C	T	2: 86,253,805 (GRCm39)	G72S	possibly damaging	Het
Otud6b	T	A	4: 14,826,293 (GRCm39)	Q34L	probably damaging	Het
Parp11	C	T	6: 127,448,599 (GRCm39)	T72I	probably damaging	Het
Pbx1	T	A	1: 168,011,158 (GRCm39)	D343V	possibly damaging	Het
Phf11	T	C	14: 59,495,932 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel15	C	A	4: 144,099,878 (GRCm39)	E296*	probably null	Het
Ranbp9	A	T	13: 43,588,331 (GRCm39)	I67N	probably damaging	Het
Rasgrp4	A	G	7: 28,847,832 (GRCm39)	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,418,226 (GRCm39)	H15R	possibly damaging	Het
Scd2	A	G	19: 44,289,710 (GRCm39)	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365 (GRCm39)	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,073,317 (GRCm39)	G722C	probably damaging	Het
Shmt1	A	T	11: 60,688,305 (GRCm39)		probably benign	Het
Slc12a1	A	G	2: 125,008,057 (GRCm39)	I206V	probably benign	Het
Slc26a3	A	G	12: 31,503,907 (GRCm39)	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572 (GRCm39)	D434V	possibly damaging	Het
Slc6a16	G	T	7: 44,909,390 (GRCm39)	M185I	probably benign	Het
Stat4	A	G	1: 52,121,729 (GRCm39)	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 127,847,389 (GRCm39)	M1I	probably null	Het
Thoc2l	A	G	5: 104,670,124 (GRCm39)	K1549E	possibly damaging	Het
Tmem225	T	C	9: 40,060,639 (GRCm39)	V66A	probably benign	Het
Tmtc4	T	C	14: 123,178,714 (GRCm39)		probably null	Het
Trpc4	T	A	3: 54,102,217 (GRCm39)	N38K	probably benign	Het
Ttll12	A	T	15: 83,471,314 (GRCm39)	Y218N	probably damaging	Het
Ttn	A	T	2: 76,778,769 (GRCm39)		probably null	Het
Tulp1	A	C	17: 28,570,969 (GRCm39)	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,513,746 (GRCm39)	V299A	probably damaging	Het
Washc4	C	A	10: 83,419,200 (GRCm39)	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Zan	A	T	5: 137,460,155 (GRCm39)	C1245*	probably null	Het
Zfyve9	A	C	4: 108,548,866 (GRCm39)	S773A	probably benign	Het

Other mutations in Kcna7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Kcna7	APN	7	45,055,935 (GRCm39)	missense	probably damaging	1.00
IGL02477:Kcna7	APN	7	45,059,047 (GRCm39)	missense	probably benign	0.01
R0373:Kcna7	UTSW	7	45,058,868 (GRCm39)	missense	probably damaging	1.00
R0624:Kcna7	UTSW	7	45,059,114 (GRCm39)	missense	probably null	1.00
R0850:Kcna7	UTSW	7	45,058,855 (GRCm39)	missense	probably damaging	0.99
R1721:Kcna7	UTSW	7	45,056,345 (GRCm39)	missense	possibly damaging	0.95
R1727:Kcna7	UTSW	7	45,058,930 (GRCm39)	missense	possibly damaging	0.94
R3040:Kcna7	UTSW	7	45,056,212 (GRCm39)	frame shift	probably null
R3755:Kcna7	UTSW	7	45,058,369 (GRCm39)	missense	probably benign	0.00
R5054:Kcna7	UTSW	7	45,056,015 (GRCm39)	missense	probably damaging	1.00
R5055:Kcna7	UTSW	7	45,056,015 (GRCm39)	missense	probably damaging	1.00
R5056:Kcna7	UTSW	7	45,056,015 (GRCm39)	missense	probably damaging	1.00
R5549:Kcna7	UTSW	7	45,056,063 (GRCm39)	missense	probably damaging	0.98
R6669:Kcna7	UTSW	7	45,058,988 (GRCm39)	missense	probably damaging	1.00
R7284:Kcna7	UTSW	7	45,058,652 (GRCm39)	missense	probably damaging	1.00
R7309:Kcna7	UTSW	7	45,058,679 (GRCm39)	missense	probably damaging	1.00
R8028:Kcna7	UTSW	7	45,058,947 (GRCm39)	nonsense	probably null
R8326:Kcna7	UTSW	7	45,058,765 (GRCm39)	missense	probably damaging	1.00
R9719:Kcna7	UTSW	7	45,056,390 (GRCm39)	missense	probably benign
R9744:Kcna7	UTSW	7	45,056,402 (GRCm39)	missense	probably benign
Z1088:Kcna7	UTSW	7	45,058,529 (GRCm39)	missense	probably damaging	1.00
Z1088:Kcna7	UTSW	7	45,056,383 (GRCm39)	missense	probably benign	0.21
Z1177:Kcna7	UTSW	7	45,058,607 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGTGTTTCCACAGGTGTG -3'
(R):5'- ATTCGAAGAGCAGCCAGAGC -3'

Sequencing Primer
(F):5'- TGGCCGGACTTTCCATGC -3'
(R):5'- CCAGAGCTGACGCGCAAAG -3'

Posted On

2017-01-23