Mutagenetix > Incidental Mutation

Incidental Mutation 'R1599:Kcna6'

176024

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

039636-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126685292-126717610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126716282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 202 (D202E)

Ref Sequence

ENSEMBL: ENSMUSP00000139481 (fasta)

Gene Model

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

AlphaFold

Q61923

Predicted Effect

probably benign
Transcript: ENSMUST00000040751
AA Change: D202E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036872
Gene: ENSMUSG00000038077
AA Change: D202E

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 benign
Transcript: ENSMUST00000112242
AA Change: D202E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107861
Gene: ENSMUSG00000038077
AA Change: D202E

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

noncoding transcript
Transcript: ENSMUST00000128137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181126

Predicted Effect

probably benign
Transcript: ENSMUST00000185333
AA Change: D202E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139481
Gene: ENSMUSG00000038077
AA Change: D202E

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: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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. 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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,197,033 (GRCm39)	E202G	probably damaging	Het
Adam23	A	G	1: 63,610,092 (GRCm39)	D698G	possibly damaging	Het
Adam3	T	C	8: 25,215,377 (GRCm39)	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,797 (GRCm39)	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,343,057 (GRCm39)	R297*	probably null	Het
Ahdc1	A	T	4: 132,792,247 (GRCm39)	S1163C	possibly damaging	Het
Axl	A	G	7: 25,463,394 (GRCm39)	Y619H	probably damaging	Het
Bcl11a	G	T	11: 24,113,887 (GRCm39)	C410F	probably damaging	Het
Brca2	C	A	5: 150,472,178 (GRCm39)	S2359*	probably null	Het
Calca	A	G	7: 114,233,707 (GRCm39)	S75P	probably damaging	Het
Ccn2	A	T	10: 24,473,297 (GRCm39)	R279W	probably benign	Het
Ccpg1	T	A	9: 72,906,407 (GRCm39)	Y54*	probably null	Het
Cfap161	A	T	7: 83,425,287 (GRCm39)	M268K	possibly damaging	Het
Cfap61	T	A	2: 145,854,083 (GRCm39)	V365E	probably benign	Het
Cgnl1	T	C	9: 71,548,709 (GRCm39)	I1000V	probably benign	Het
Chd2	A	T	7: 73,122,799 (GRCm39)	D978E	probably benign	Het
Cyth1	G	A	11: 118,068,047 (GRCm39)	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,095,468 (GRCm39)	D505E	probably benign	Het
Dgkd	A	G	1: 87,809,608 (GRCm39)	T99A	possibly damaging	Het
Fam161a	A	T	11: 22,971,093 (GRCm39)	M180L	probably benign	Het
Gar1	G	T	3: 129,624,253 (GRCm39)	R80S	probably benign	Het
Gm28042	T	C	2: 119,866,944 (GRCm39)	S419P	probably benign	Het
Gm5591	A	C	7: 38,219,794 (GRCm39)	C360G	probably benign	Het
Golga2	A	G	2: 32,193,185 (GRCm39)	H427R	probably benign	Het
Gpt2	A	G	8: 86,238,863 (GRCm39)	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,361,054 (GRCm39)	H118L	unknown	Het
Ice2	T	A	9: 69,318,724 (GRCm39)	C303S	probably null	Het
Ikzf3	C	A	11: 98,357,919 (GRCm39)	G473C	probably damaging	Het
Kansl3	A	T	1: 36,406,951 (GRCm39)	D38E	probably damaging	Het
Klhl21	G	A	4: 152,096,757 (GRCm39)	G341D	probably damaging	Het
Klhl29	A	T	12: 5,143,538 (GRCm39)	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,270,000 (GRCm39)	L2449F	probably damaging	Het
Kmt5c	A	G	7: 4,744,899 (GRCm39)	E10G	probably damaging	Het
Lama3	C	T	18: 12,583,457 (GRCm39)	Q682*	probably null	Het
Lamb3	T	C	1: 193,002,801 (GRCm39)	V82A	probably damaging	Het
Larp4b	C	T	13: 9,172,186 (GRCm39)	T2I	probably damaging	Het
Man2a1	T	C	17: 64,986,826 (GRCm39)	Y613H	possibly damaging	Het
Mcm3	G	A	1: 20,890,422 (GRCm39)	T4I	probably benign	Het
Mki67	C	T	7: 135,301,663 (GRCm39)	A1124T	probably benign	Het
Mlh3	A	T	12: 85,315,143 (GRCm39)	L348I	probably damaging	Het
Mmrn1	G	A	6: 60,922,021 (GRCm39)	M159I	probably benign	Het
Muc5ac	A	T	7: 141,352,640 (GRCm39)	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nosip	A	G	7: 44,723,430 (GRCm39)	N32S	probably benign	Het
Npat	T	C	9: 53,473,704 (GRCm39)	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,440,024 (GRCm39)	I522N	probably damaging	Het
Or1j18	G	T	2: 36,625,001 (GRCm39)	V223F	probably benign	Het
Or2r3	T	A	6: 42,448,176 (GRCm39)	K312M	probably damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or7g32	T	A	9: 19,389,517 (GRCm39)	T7S	probably damaging	Het
Pappa2	A	G	1: 158,684,742 (GRCm39)	F799S	probably damaging	Het
Pate5	T	C	9: 35,750,333 (GRCm39)	N113S	probably benign	Het
Pcdha1	C	T	18: 37,318,290 (GRCm39)	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,866,859 (GRCm39)	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 110,363,016 (GRCm39)	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,880,055 (GRCm39)	V491L	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prr27	G	T	5: 87,991,084 (GRCm39)	R232L	probably benign	Het
Rab3gap2	C	T	1: 184,983,223 (GRCm39)	T454I	probably benign	Het
Rgs11	C	A	17: 26,427,223 (GRCm39)	H385N	probably damaging	Het
S1pr5	T	A	9: 21,155,230 (GRCm39)	T399S	probably benign	Het
Sacs	G	A	14: 61,441,087 (GRCm39)	M1044I	probably benign	Het
Sec31b	T	A	19: 44,511,592 (GRCm39)	Q603L	possibly damaging	Het
Setx	G	A	2: 29,030,385 (GRCm39)	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,864,856 (GRCm39)	P444S	probably benign	Het
Shoc1	A	T	4: 59,072,349 (GRCm39)	N622K	possibly damaging	Het
Strn3	T	A	12: 51,699,549 (GRCm39)	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,224,868 (GRCm39)	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,249,616 (GRCm39)	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,266,178 (GRCm39)	V64A	probably damaging	Het
Trafd1	A	T	5: 121,517,720 (GRCm39)	N24K	probably damaging	Het
Ttc41	T	C	10: 86,612,437 (GRCm39)	S1237P	probably benign	Het
Ttll1	A	G	15: 83,381,555 (GRCm39)	V238A	probably benign	Het
Vps50	T	C	6: 3,565,537 (GRCm39)	S492P	probably benign	Het
Zic1	T	C	9: 91,243,741 (GRCm39)	I409V	probably benign	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
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
R8097:Kcna6	UTSW	6	126,715,575 (GRCm39)	missense	probably damaging	1.00
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'- AGTGAAGATGTTCCTCCAGTCCCC -3'
(R):5'- ACTTCTTTGACCGCAACCGACC -3'

Sequencing Primer
(F):5'- CAACCCCCCAGAGGGAATG -3'
(R):5'- ACTATCAATCTGGAGGTCGC -3'

Posted On

2014-04-24