Mutagenetix > Incidental Mutation

Incidental Mutation 'R5549:Kcna7'

435037

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

043106-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5549 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

45055077-45059187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45056063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 93 (H93L)

Ref Sequence

ENSEMBL: ENSMUSP00000103403 (fasta)

Gene Model

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

AlphaFold

Q17ST2

Predicted Effect

probably damaging
Transcript: ENSMUST00000107774
AA Change: H93L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103403
Gene: ENSMUSG00000038201
AA Change: H93L

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,993 (GRCm39)	E324G	possibly damaging	Het
Acad8	C	T	9: 26,896,847 (GRCm39)	R204Q	probably damaging	Het
Adgrg7	T	G	16: 56,570,790 (GRCm39)	T413P	probably damaging	Het
Ankrd11	A	G	8: 123,617,117 (GRCm39)	I2224T	probably benign	Het
Arhgap23	A	G	11: 97,357,394 (GRCm39)	D964G	probably damaging	Het
Atf6b	A	G	17: 34,870,657 (GRCm39)	D367G	probably damaging	Het
Axdnd1	A	G	1: 156,226,104 (GRCm39)	L131P	probably damaging	Het
Bmp8b	T	C	4: 123,018,278 (GRCm39)	V383A	probably damaging	Het
C5ar2	A	G	7: 15,970,868 (GRCm39)	V353A	probably damaging	Het
Ccr5	C	A	9: 123,925,408 (GRCm39)	A337E	probably benign	Het
Cftr	G	A	6: 18,227,953 (GRCm39)	V382I	probably benign	Het
Csmd3	G	C	15: 48,048,753 (GRCm39)	S446C	probably damaging	Het
Cyp2d12	A	G	15: 82,440,498 (GRCm39)	T96A	probably benign	Het
Diaph3	T	G	14: 87,216,106 (GRCm39)	I465L	probably benign	Het
Fabp3	A	G	4: 130,209,018 (GRCm39)	*134W	probably null	Het
Fgf22	G	T	10: 79,592,696 (GRCm39)	M130I	probably damaging	Het
Flnc	G	A	6: 29,453,690 (GRCm39)	V1792M	probably damaging	Het
Grik3	G	A	4: 125,579,838 (GRCm39)	A528T	possibly damaging	Het
Hecw2	G	A	1: 53,964,850 (GRCm39)	R659W	possibly damaging	Het
Hmbs	C	T	9: 44,250,774 (GRCm39)		probably null	Het
Ift122	T	G	6: 115,868,983 (GRCm39)	L490R	probably damaging	Het
Igkv4-63	T	C	6: 69,355,116 (GRCm39)	H55R	probably damaging	Het
Itga4	A	T	2: 79,086,611 (GRCm39)	N96I	probably damaging	Het
Klhdc7b	A	G	15: 89,271,562 (GRCm39)	I815V	probably benign	Het
Lcmt1	G	A	7: 123,027,330 (GRCm39)	E298K	probably damaging	Het
Ly6g6f	A	G	17: 35,302,333 (GRCm39)	V68A	possibly damaging	Het
Map3k8	C	T	18: 4,340,762 (GRCm39)	C184Y	probably damaging	Het
Mcemp1	A	G	8: 3,718,340 (GRCm39)	T183A	possibly damaging	Het
Mobp	T	G	9: 119,996,876 (GRCm39)	S2R	probably damaging	Het
Mprip	A	G	11: 59,651,644 (GRCm39)	S1783G	probably benign	Het
Mterf3	C	A	13: 67,076,321 (GRCm39)	A129S	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nr2c1	A	G	10: 94,003,558 (GRCm39)	T239A	probably benign	Het
Odr4	A	G	1: 150,247,909 (GRCm39)	S325P	possibly damaging	Het
Oplah	G	A	15: 76,182,466 (GRCm39)	A963V	probably damaging	Het
Or13a26	A	G	7: 140,284,712 (GRCm39)		probably null	Het
Parp14	C	T	16: 35,661,505 (GRCm39)	S1481N	probably benign	Het
Prxl2a	T	C	14: 40,726,013 (GRCm39)	K44E	possibly damaging	Het
Rictor	C	T	15: 6,816,391 (GRCm39)	T1221M	probably damaging	Het
Rpe	G	A	1: 66,755,163 (GRCm39)	D182N	probably damaging	Het
Slc24a3	C	A	2: 145,448,784 (GRCm39)	P443T	probably damaging	Het
Slc25a47	T	C	12: 108,822,143 (GRCm39)	*311Q	probably null	Het
Sox2	C	G	3: 34,705,142 (GRCm39)	A193G	probably benign	Het
Svep1	T	C	4: 58,057,954 (GRCm39)	S3284G	probably benign	Het
Zfp369	A	T	13: 65,445,194 (GRCm39)	H779L	probably damaging	Het
Zfp513	A	T	5: 31,357,947 (GRCm39)	L144Q	possibly damaging	Het
Zfp526	T	C	7: 24,925,109 (GRCm39)	F456S	possibly damaging	Het
Zfp791	C	T	8: 85,836,835 (GRCm39)	G343D	probably damaging	Het
Zfp941	A	C	7: 140,388,021 (GRCm39)	I664S	possibly damaging	Het
Zkscan3	A	G	13: 21,578,233 (GRCm39)	V189A	probably damaging	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
R5024:Kcna7	UTSW	7	45,056,015 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGCAGTGTTTCCACAGGTG -3'
(R):5'- ATTCGAAGAGCAGCCAGAGC -3'

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

Posted On

2016-10-24