Mutagenetix > Incidental Mutation

Incidental Mutation 'R8097:Kcna6'

630236

Institutional Source

Beutler Lab

Gene Symbol

Kcna6

Ensembl Gene

ENSMUSG00000038077

Gene Name

potassium voltage-gated channel, shaker-related, subfamily, member 6

Synonyms

Kv1.6, MK1.6

MMRRC Submission

067529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126685292-126717610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126715575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 438 (V438E)

Ref Sequence

ENSEMBL: ENSMUSP00000139481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040751] [ENSMUST00000112242] [ENSMUST00000185333]

AlphaFold

Q61923

Predicted Effect

probably damaging
Transcript: ENSMUST00000040751
AA Change: V438E

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

SMART Domains

Protein: ENSMUSP00000036872
Gene: ENSMUSG00000038077
AA Change: V438E

Domain	Start	End	E-Value	Type
BTB	41	141	3.64e-9	SMART
transmembrane domain	175	197	N/A	INTRINSIC
low complexity region	223	230	N/A	INTRINSIC
low complexity region	240	257	N/A	INTRINSIC
Pfam:Ion_trans	265	457	3.6e-36	PFAM
Pfam:Ion_trans_2	377	462	8.1e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112242
AA Change: V438E

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

SMART Domains

Protein: ENSMUSP00000107861
Gene: ENSMUSG00000038077
AA Change: V438E

Domain	Start	End	E-Value	Type
BTB	41	141	3.64e-9	SMART
Pfam:Ion_trans	173	469	6.1e-52	PFAM
Pfam:Ion_trans_2	377	462	3.8e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185333
AA Change: V438E

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

SMART Domains

Protein: ENSMUSP00000139481
Gene: ENSMUSG00000038077
AA Change: V438E

Domain	Start	End	E-Value	Type
BTB	41	141	3.64e-9	SMART
transmembrane domain	175	197	N/A	INTRINSIC
low complexity region	223	230	N/A	INTRINSIC
low complexity region	240	257	N/A	INTRINSIC
Pfam:Ion_trans	265	457	3.6e-36	PFAM
Pfam:Ion_trans_2	377	462	8.1e-14	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

100% (64/64)

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. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in an increased thermal nociceptive threshold and in females an increase in circulating triglyceride levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,805,394 (GRCm39)	M749I	probably benign	Het
Adcy8	A	T	15: 64,743,711 (GRCm39)		probably null	Het
Adgrb2	G	A	4: 129,901,690 (GRCm39)	C438Y	probably damaging	Het
Amn1	G	A	6: 149,070,853 (GRCm39)		probably benign	Het
Atxn2	C	T	5: 121,887,286 (GRCm39)	R319W	probably damaging	Het
Ccdc162	T	C	10: 41,510,115 (GRCm39)	E830G	probably benign	Het
Ccdc71	T	C	9: 108,340,751 (GRCm39)	V188A	probably benign	Het
Ceacam11	A	T	7: 17,709,455 (GRCm39)	R218*	probably null	Het
Col18a1	A	C	10: 76,948,342 (GRCm39)	L390R	unknown	Het
Cps1	A	G	1: 67,267,429 (GRCm39)	N1399S	probably benign	Het
Ctnnal1	T	C	4: 56,847,845 (GRCm39)	E98G	probably damaging	Het
Cyp1a2	T	A	9: 57,586,836 (GRCm39)		probably null	Het
Cyp2d11	C	A	15: 82,274,581 (GRCm39)		probably null	Het
Cyp2j7	G	A	4: 96,103,647 (GRCm39)	T296I	possibly damaging	Het
Dcc	C	T	18: 71,812,573 (GRCm39)	G407D	probably damaging	Het
E330034G19Rik	T	C	14: 24,356,920 (GRCm39)	L217S	unknown	Het
Eea1	A	G	10: 95,862,516 (GRCm39)	K813E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etf1	T	C	18: 35,064,697 (GRCm39)	D4G	probably benign	Het
F830045P16Rik	T	C	2: 129,305,505 (GRCm39)	T290A	possibly damaging	Het
Filip1	T	C	9: 79,725,541 (GRCm39)	D1026G	probably benign	Het
Flad1	A	T	3: 89,316,442 (GRCm39)	L40H	probably damaging	Het
Fpr3	C	A	17: 18,191,054 (GRCm39)	N108K	probably damaging	Het
Galntl6	A	G	8: 58,415,407 (GRCm39)		probably null	Het
Hmgcll1	T	C	9: 75,922,421 (GRCm39)	L22P	probably benign	Het
Iars2	C	T	1: 185,061,586 (GRCm39)		probably benign	Het
Ifna15	A	T	4: 88,475,938 (GRCm39)	L182Q	probably benign	Het
Kcnma1	T	A	14: 23,381,032 (GRCm39)	D1012V	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lama2	G	A	10: 27,066,660 (GRCm39)	Q1074*	probably null	Het
Lhx9	T	C	1: 138,766,089 (GRCm39)	Y242C	probably damaging	Het
Lrrc37a	T	A	11: 103,394,925 (GRCm39)	I167F	probably benign	Het
Lrrc49	T	A	9: 60,522,331 (GRCm39)	T351S	probably benign	Het
Lrrc56	A	G	7: 140,775,819 (GRCm39)		probably null	Het
Mlh1	C	A	9: 111,085,160 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,237,525 (GRCm39)	D1999G	probably damaging	Het
Ncapd2	A	T	6: 125,145,945 (GRCm39)	I1272K	possibly damaging	Het
Neurl1a	A	G	19: 47,245,958 (GRCm39)	D530G	probably damaging	Het
Nid2	T	C	14: 19,848,657 (GRCm39)	V1019A	possibly damaging	Het
Nlrp2	A	T	7: 5,330,650 (GRCm39)	L582Q	probably damaging	Het
Or1o4	A	T	17: 37,590,818 (GRCm39)	Y164*	probably null	Het
Or4c121	A	T	2: 89,023,976 (GRCm39)	I134N	probably damaging	Het
Or51a39	A	G	7: 102,363,197 (GRCm39)	V141A	possibly damaging	Het
Or8k1	A	T	2: 86,048,010 (GRCm39)	F15I	probably damaging	Het
Pde6c	G	T	19: 38,150,414 (GRCm39)	E520*	probably null	Het
Pdzk1	C	T	3: 96,757,556 (GRCm39)	T4I	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rap1gap	G	T	4: 137,455,597 (GRCm39)	V667F	probably benign	Het
Recql	A	T	6: 142,320,637 (GRCm39)	I137N	probably damaging	Het
Ryr2	T	C	13: 11,960,881 (GRCm39)	E19G	probably damaging	Het
Ryr3	T	C	2: 112,500,615 (GRCm39)		probably null	Het
Six1	A	G	12: 73,090,524 (GRCm39)	S214P	possibly damaging	Het
Slc24a1	T	C	9: 64,831,734 (GRCm39)	D1121G	probably damaging	Het
Slc30a6	T	A	17: 74,719,693 (GRCm39)	C218S	possibly damaging	Het
Spata31e1	T	A	13: 49,943,676 (GRCm39)	M1L	probably benign	Het
Stab2	T	C	10: 86,704,959 (GRCm39)	D1803G	possibly damaging	Het
Sult2a3	A	T	7: 13,816,635 (GRCm39)	V181E	possibly damaging	Het
Ubc	C	T	5: 125,466,982 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,596,800 (GRCm39)	N870S	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vps13b	T	C	15: 35,709,492 (GRCm39)	I1813T	probably benign	Het
Wdr11	C	T	7: 129,209,611 (GRCm39)	P473L	probably damaging	Het
Zcchc4	T	A	5: 52,953,333 (GRCm39)	I114N	probably benign	Het
Zfp516	C	A	18: 83,005,295 (GRCm39)	S733*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Kcna6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Kcna6	APN	6	126,715,576 (GRCm39)	missense	probably damaging	1.00
IGL01623:Kcna6	APN	6	126,715,576 (GRCm39)	missense	probably damaging	1.00
IGL02385:Kcna6	APN	6	126,715,917 (GRCm39)	missense	probably benign
IGL02452:Kcna6	APN	6	126,715,443 (GRCm39)	missense	possibly damaging	0.57
IGL02480:Kcna6	APN	6	126,715,531 (GRCm39)	missense	probably damaging	1.00
IGL02604:Kcna6	APN	6	126,716,167 (GRCm39)	missense	probably benign	0.17
IGL02794:Kcna6	APN	6	126,715,515 (GRCm39)	missense	probably damaging	1.00
R1599:Kcna6	UTSW	6	126,716,282 (GRCm39)	missense	probably benign	0.00
R1932:Kcna6	UTSW	6	126,715,451 (GRCm39)	missense	probably benign	0.16
R1984:Kcna6	UTSW	6	126,715,473 (GRCm39)	missense	probably benign	0.34
R1985:Kcna6	UTSW	6	126,715,473 (GRCm39)	missense	probably benign	0.34
R2114:Kcna6	UTSW	6	126,716,322 (GRCm39)	missense	possibly damaging	0.93
R4111:Kcna6	UTSW	6	126,716,737 (GRCm39)	missense	probably damaging	1.00
R4112:Kcna6	UTSW	6	126,716,737 (GRCm39)	missense	probably damaging	1.00
R4793:Kcna6	UTSW	6	126,715,519 (GRCm39)	missense	probably damaging	1.00
R4818:Kcna6	UTSW	6	126,715,387 (GRCm39)	missense	probably benign	0.00
R4884:Kcna6	UTSW	6	126,715,689 (GRCm39)	missense	probably benign	0.08
R5126:Kcna6	UTSW	6	126,715,695 (GRCm39)	missense	probably damaging	1.00
R5754:Kcna6	UTSW	6	126,716,688 (GRCm39)	missense	probably damaging	1.00
R6074:Kcna6	UTSW	6	126,716,242 (GRCm39)	missense	probably benign
R7332:Kcna6	UTSW	6	126,716,292 (GRCm39)	missense	possibly damaging	0.89
R7766:Kcna6	UTSW	6	126,716,682 (GRCm39)	missense	probably damaging	1.00
R7846:Kcna6	UTSW	6	126,715,983 (GRCm39)	missense	probably damaging	1.00
R7897:Kcna6	UTSW	6	126,715,761 (GRCm39)	missense	probably damaging	1.00
R8000:Kcna6	UTSW	6	126,715,948 (GRCm39)	nonsense	probably null
R8920:Kcna6	UTSW	6	126,716,610 (GRCm39)	missense	probably damaging	1.00
R9477:Kcna6	UTSW	6	126,716,361 (GRCm39)	missense	probably damaging	1.00
R9645:Kcna6	UTSW	6	126,716,022 (GRCm39)	missense	probably benign	0.01
R9662:Kcna6	UTSW	6	126,715,380 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- TTTGCCAAGCCCATTGTCCG -3'
(R):5'- TGGGTAAGACCTTACAGGCG -3'

Sequencing Primer
(F):5'- GTTGCCTTCAAGTCCGGAG -3'
(R):5'- GTAAGACCTTACAGGCGTCCATG -3'

Posted On

2020-06-30