Mutagenetix > Incidental Mutation

Incidental Mutation 'R9477:Kcna6'

715858

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9477 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126685292-126717610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126716361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 176 (I176T)

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: I176T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036872
Gene: ENSMUSG00000038077
AA Change: I176T

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: I176T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107861
Gene: ENSMUSG00000038077
AA Change: I176T

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: I176T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139481
Gene: ENSMUSG00000038077
AA Change: I176T

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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
Agap1	A	T	1: 89,765,485 (GRCm39)	M618L	probably benign	Het
Anxa2r2	A	T	13: 120,488,282 (GRCm39)	I89N	probably damaging	Het
App	C	A	16: 84,853,392 (GRCm39)	A229S	unknown	Het
B020011L13Rik	G	T	1: 117,728,903 (GRCm39)	E137*	probably null	Het
BC034090	C	T	1: 155,102,087 (GRCm39)	G59E	probably damaging	Het
C1ra	A	G	6: 124,499,455 (GRCm39)	D547G	probably benign	Het
Cdh2	A	T	18: 16,755,212 (GRCm39)	D774E	probably damaging	Het
Cdon	A	G	9: 35,403,201 (GRCm39)	N1104D	probably damaging	Het
Cecr2	G	A	6: 120,720,743 (GRCm39)		probably null	Het
Ces2b	A	T	8: 105,560,556 (GRCm39)	N124Y	probably damaging	Het
Cfap61	A	G	2: 145,985,032 (GRCm39)	T959A	probably benign	Het
Chaf1a	A	T	17: 56,369,244 (GRCm39)	K492*	probably null	Het
Clec14a	A	G	12: 58,314,620 (GRCm39)	V334A	probably benign	Het
Col6a3	A	G	1: 90,706,621 (GRCm39)	I2771T	unknown	Het
Creb3	T	C	4: 43,566,298 (GRCm39)	L244P	probably damaging	Het
Crispld1	T	C	1: 17,816,956 (GRCm39)	V171A	probably benign	Het
Crmp1	T	C	5: 37,446,182 (GRCm39)	Y613H	probably damaging	Het
Csrnp3	G	A	2: 65,852,819 (GRCm39)	V416I	probably benign	Het
Dhrs1	A	G	14: 55,976,868 (GRCm39)	V272A	probably benign	Het
Dip2b	T	C	15: 99,936,784 (GRCm39)	S32P	probably damaging	Het
Dpp10	G	T	1: 123,304,370 (GRCm39)	T510K	possibly damaging	Het
Dst	A	G	1: 34,205,292 (GRCm39)	Y820C	probably damaging	Het
Efcab3	A	T	11: 104,836,698 (GRCm39)	H3562L	unknown	Het
Fam3c	A	T	6: 22,308,479 (GRCm39)	M238K	probably damaging	Het
Fcgbpl1	T	C	7: 27,852,265 (GRCm39)	F1263L	probably damaging	Het
Fcrl2	A	T	3: 87,159,803 (GRCm39)	C484S	probably damaging	Het
Fsd1	T	C	17: 56,295,720 (GRCm39)	L97P	possibly damaging	Het
Gapdhs	T	C	7: 30,431,682 (GRCm39)	I310V	probably damaging	Het
Gimap4	A	T	6: 48,667,314 (GRCm39)	N23I	probably benign	Het
Gpr21	T	A	2: 37,408,386 (GRCm39)	F311I	probably damaging	Het
Grm1	T	C	10: 10,595,405 (GRCm39)	E741G	probably benign	Het
Gsto2	G	A	19: 47,864,911 (GRCm39)	R148H	probably benign	Het
Gzmd	A	G	14: 56,368,813 (GRCm39)	V27A	probably benign	Het
Hbp1	A	G	12: 31,980,766 (GRCm39)	C446R	probably damaging	Het
Hmcn2	A	T	2: 31,286,031 (GRCm39)		probably null	Het
Ifi205	G	A	1: 173,854,155 (GRCm39)	T166I	probably benign	Het
Il23a	T	A	10: 128,133,922 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jag1	A	T	2: 136,936,409 (GRCm39)	C362S	probably damaging	Het
Jmjd1c	A	T	10: 66,993,734 (GRCm39)	R72*	probably null	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Mast1	T	C	8: 85,638,779 (GRCm39)	K1517E	probably benign	Het
Mbnl1	A	G	3: 60,520,769 (GRCm39)	D119G	probably damaging	Het
Mfsd8	A	G	3: 40,785,057 (GRCm39)		probably null	Het
Mtus2	T	G	5: 148,014,740 (GRCm39)	V511G	probably benign	Het
Myot	A	C	18: 44,470,333 (GRCm39)	Q103H	probably benign	Het
Nrip2	G	A	6: 128,377,145 (GRCm39)	D24N	probably benign	Het
Ntm	T	A	9: 29,322,922 (GRCm39)	S33C	probably benign	Het
Nus1	C	T	10: 52,294,001 (GRCm39)	T55M	possibly damaging	Het
Or4c112	G	A	2: 88,853,615 (GRCm39)	T244I	probably benign	Het
Pik3cb	C	T	9: 98,922,973 (GRCm39)		probably null	Het
Pogk	T	C	1: 166,227,404 (GRCm39)	N249S	probably damaging	Het
Pou1f1	C	T	16: 65,320,503 (GRCm39)	T66I	possibly damaging	Het
Ppp1r42	T	G	1: 10,055,854 (GRCm39)	K211N	probably damaging	Het
Ppp2r3d	C	A	9: 124,476,857 (GRCm38)	D2Y		Het
Prdm5	A	T	6: 65,771,342 (GRCm39)	N51I	possibly damaging	Het
Rif1	G	A	2: 52,001,342 (GRCm39)	A1599T	probably benign	Het
Sema3c	G	A	5: 17,921,981 (GRCm39)	A520T		Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Spice1	T	A	16: 44,197,183 (GRCm39)	N489K	possibly damaging	Het
Sptbn4	A	G	7: 27,132,624 (GRCm39)	M116T	possibly damaging	Het
Supt5	T	A	7: 28,025,500 (GRCm39)	N249Y	probably damaging	Het
Tex2	A	G	11: 106,410,706 (GRCm39)		probably null	Het
Trhde	T	A	10: 114,338,980 (GRCm39)	E610V	probably benign	Het
Trmt12	T	C	15: 58,745,471 (GRCm39)	S290P	possibly damaging	Het
Trpm2	C	T	10: 77,747,224 (GRCm39)	V1425M	probably benign	Het
Uaca	T	C	9: 60,778,108 (GRCm39)	S832P	probably benign	Het
Vcan	T	A	13: 89,841,128 (GRCm39)	D1472V	probably damaging	Het
Virma	A	G	4: 11,528,753 (GRCm39)	E1330G	probably damaging	Het
Vmn1r125	T	G	7: 21,006,261 (GRCm39)	V53G	possibly damaging	Het
Vmn2r27	A	T	6: 124,168,910 (GRCm39)	I740N	probably damaging	Het
Vmn2r70	C	T	7: 85,218,244 (GRCm39)	C18Y	possibly damaging	Het
Zfp35	A	G	18: 24,136,188 (GRCm39)	I177M	possibly damaging	Het
Zfp532	T	C	18: 65,777,428 (GRCm39)	I895T	probably benign	Het
Zfp58	C	A	13: 67,640,158 (GRCm39)	C111F	probably 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
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
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'- ATGCATAGGAATCTTCATCCTCATC -3'
(R):5'- ATCAATCTGGAGGTCGCCTG -3'

Sequencing Primer
(F):5'- AGGAATCTTCATCCTCATCTTCTTC -3'
(R):5'- CCCCTGGACATTTTTATGGAAGAG -3'

Posted On

2022-06-15