Mutagenetix > Incidental Mutation

Incidental Mutation 'R1932:Kcna6'

215463

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

039950-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126685292-126717610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126715451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 479 (H479Q)

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: H479Q

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036872
Gene: ENSMUSG00000038077
AA Change: H479Q

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: H479Q

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107861
Gene: ENSMUSG00000038077
AA Change: H479Q

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: H479Q

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139481
Gene: ENSMUSG00000038077
AA Change: H479Q

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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,691 (GRCm39)	Q278H	probably benign	Het
Ace3	T	C	11: 105,895,436 (GRCm39)		probably null	Het
Aco1	T	C	4: 40,176,499 (GRCm39)	V221A	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamts8	A	G	9: 30,867,808 (GRCm39)	D544G	probably benign	Het
Angptl4	C	A	17: 34,000,249 (GRCm39)	E40*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip2	T	A	16: 10,059,567 (GRCm39)	I369N	possibly damaging	Het
Atp6ap1l	T	A	13: 91,031,806 (GRCm39)	Y292F	probably damaging	Het
Atp6v1b2	A	T	8: 69,555,459 (GRCm39)	K217*	probably null	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Blvra	T	A	2: 126,937,068 (GRCm39)	W174R	probably damaging	Het
Catsperg1	C	T	7: 28,897,568 (GRCm39)	G239R	probably damaging	Het
Ccdc157	G	T	11: 4,096,549 (GRCm39)	A400D	probably damaging	Het
Chd2	G	T	7: 73,104,193 (GRCm39)	P1298T	probably damaging	Het
CK137956	G	A	4: 127,840,651 (GRCm39)	L352F	possibly damaging	Het
Col22a1	G	A	15: 71,741,989 (GRCm39)	P503S	unknown	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Crem	C	T	18: 3,299,284 (GRCm39)	G47R	probably benign	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Cts8	T	A	13: 61,401,429 (GRCm39)	H62L	probably damaging	Het
Cyp4a32	T	A	4: 115,468,474 (GRCm39)	F319I	possibly damaging	Het
Dchs1	T	C	7: 105,415,109 (GRCm39)	S692G	probably damaging	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Defa29	A	T	8: 21,816,865 (GRCm39)	S43T	probably damaging	Het
Dnajc14	A	G	10: 128,652,661 (GRCm39)	D573G	probably damaging	Het
Drd5	A	G	5: 38,477,319 (GRCm39)	Y104C	probably benign	Het
Efcab7	C	T	4: 99,768,215 (GRCm39)	P102L	probably damaging	Het
Efhc1	A	G	1: 21,037,624 (GRCm39)	Y267C	probably damaging	Het
Eif2ak4	T	C	2: 118,278,967 (GRCm39)	Y243H	probably damaging	Het
Gfm2	T	A	13: 97,278,475 (GRCm39)	I7N	probably damaging	Het
Gmds	A	G	13: 32,311,980 (GRCm39)	F150L	possibly damaging	Het
Gp2	T	C	7: 119,053,455 (GRCm39)	T169A	possibly damaging	Het
Grb14	A	G	2: 64,743,146 (GRCm39)	F508L	probably damaging	Het
Hdac5	T	A	11: 102,086,698 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,450,066 (GRCm39)	M620K	probably damaging	Het
Herc3	A	G	6: 58,853,778 (GRCm39)	E608G	probably damaging	Het
Hoxb4	T	C	11: 96,210,867 (GRCm39)	Y156H	probably damaging	Het
Ifi205	T	A	1: 173,855,980 (GRCm39)	I17F	possibly damaging	Het
Il2rb	A	T	15: 78,375,977 (GRCm39)	S25T	possibly damaging	Het
Kansl1	T	C	11: 104,225,923 (GRCm39)	T998A	probably damaging	Het
Kif2a	T	C	13: 107,114,599 (GRCm39)	K350R	probably benign	Het
Lct	G	T	1: 128,221,898 (GRCm39)	A1547E	probably damaging	Het
Lhx9	T	A	1: 138,769,747 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Lrp4	G	A	2: 91,327,700 (GRCm39)	W1516*	probably null	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Ltbp1	T	A	17: 75,620,029 (GRCm39)	D719E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,345,830 (GRCm39)	I1326T	probably damaging	Het
Manba	T	C	3: 135,250,501 (GRCm39)	F376S	probably benign	Het
Mink1	T	C	11: 70,499,254 (GRCm39)		probably null	Het
Nfatc2ip	C	T	7: 125,984,164 (GRCm39)	V410I	probably damaging	Het
Nlrp1b	A	T	11: 71,072,964 (GRCm39)	I293N	probably damaging	Het
Or10aa3	T	C	1: 173,878,244 (GRCm39)	Y102H	probably damaging	Het
Otol1	A	C	3: 69,935,437 (GRCm39)	E476D	probably benign	Het
Pcdhb4	C	T	18: 37,442,594 (GRCm39)	P635S	probably benign	Het
Pfkfb4	T	A	9: 108,828,237 (GRCm39)	F91I	probably damaging	Het
Polq	G	A	16: 36,882,666 (GRCm39)	R1610Q	possibly damaging	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Ppp1r15b	C	T	1: 133,059,363 (GRCm39)		probably benign	Het
Prkca	T	G	11: 108,082,975 (GRCm39)	D90A	probably benign	Het
Sall3	T	C	18: 81,012,968 (GRCm39)	D1156G	probably benign	Het
Scn7a	A	T	2: 66,506,446 (GRCm39)	L1481H	probably damaging	Het
Selenon	A	T	4: 134,271,929 (GRCm39)	I292N	probably damaging	Het
Sema6d	T	A	2: 124,501,806 (GRCm39)		probably null	Het
Sgpp1	G	T	12: 75,762,953 (GRCm39)	Y409*	probably null	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc25a13	A	G	6: 6,042,264 (GRCm39)	V638A	probably benign	Het
Snhg11	T	C	2: 158,218,746 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,389 (GRCm39)	Q800R	probably benign	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Swap70	C	T	7: 109,878,470 (GRCm39)	A480V	possibly damaging	Het
Sycp2	A	G	2: 178,023,750 (GRCm39)	V422A	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet3	T	C	6: 83,381,361 (GRCm39)	N269S	possibly damaging	Het
Thap12	A	T	7: 98,366,045 (GRCm39)	I738F	possibly damaging	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmem229a	A	T	6: 24,955,010 (GRCm39)	F248Y	probably damaging	Het
Tmprss7	G	A	16: 45,504,956 (GRCm39)	Q145*	probably null	Het
Tnc	A	T	4: 63,911,262 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,508,797 (GRCm39)	Y21N	probably damaging	Het
Tpr	A	G	1: 150,297,414 (GRCm39)	D1009G	probably benign	Het
Trpm2	G	A	10: 77,776,992 (GRCm39)	A435V	probably damaging	Het
Ubr3	T	A	2: 69,783,820 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,853,653 (GRCm39)	N436D	possibly damaging	Het
Vmn2r104	T	A	17: 20,261,031 (GRCm39)	Y464F	probably damaging	Het
Vmn2r44	T	A	7: 8,370,981 (GRCm39)	R688S	probably benign	Het
Wdr74	G	T	19: 8,715,311 (GRCm39)	V157L	probably benign	Het
Wnt7a	T	A	6: 91,371,530 (GRCm39)	D144V	probably benign	Het
Zfp106	C	T	2: 120,362,162 (GRCm39)	A986T	possibly damaging	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
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'- TGAGAGATGACTTGCTCAGAGC -3'
(R):5'- TGGGCTGTGGTTACAATGACC -3'

Sequencing Primer
(F):5'- AGATGACTTGCTCAGAGCTCCTG -3'
(R):5'- GTTACAATGACCACGGTAGGTTATG -3'

Posted On

2014-07-14