Mutagenetix > Incidental Mutation

Incidental Mutation 'R4719:Kcna10'

354285

Institutional Source

Beutler Lab

Gene Symbol

Kcna10

Ensembl Gene

ENSMUSG00000042861

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 10

Synonyms

Kv1.8, Kcna8

MMRRC Submission

041957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R4719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107090459-107103037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107102217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 283 (T283A)

Ref Sequence

ENSEMBL: ENSMUSP00000088118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055064]

AlphaFold

B2RQA1

Predicted Effect

probably benign
Transcript: ENSMUST00000055064
AA Change: T283A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088118
Gene: ENSMUSG00000042861
AA Change: T283A

Domain	Start	End	E-Value	Type
BTB	86	186	1.07e-6	SMART
Pfam:Ion_trans	215	468	3.4e-51	PFAM
Pfam:Ion_trans_2	376	461	6.2e-16	PFAM

Meta Mutation Damage Score

0.2110

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

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 is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significant vestibular and mild hearing dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,089,971 (GRCm39)	Y971C	probably damaging	Het
Actr5	T	A	2: 158,468,433 (GRCm39)	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,586,896 (GRCm39)		probably null	Het
Agbl2	A	G	2: 90,645,733 (GRCm39)	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,554,255 (GRCm39)		probably benign	Het
Arhgef40	C	T	14: 52,242,395 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,701 (GRCm39)		probably null	Het
Atpsckmt	T	G	15: 31,608,243 (GRCm39)	V98G	probably damaging	Het
Cacna1s	T	C	1: 136,046,390 (GRCm39)		probably benign	Het
Car9	G	A	4: 43,508,616 (GRCm39)	W42*	probably null	Het
Cdh20	T	C	1: 104,862,035 (GRCm39)	Y72H	probably damaging	Het
Ces1g	T	C	8: 94,043,718 (GRCm39)	D407G	possibly damaging	Het
Cngb3	T	A	4: 19,309,562 (GRCm39)	D73E	probably benign	Het
Col6a4	A	T	9: 105,945,451 (GRCm39)	F888I	probably damaging	Het
Dgat2	T	C	7: 98,807,504 (GRCm39)	D222G	probably benign	Het
Dscaml1	T	C	9: 45,583,993 (GRCm39)	M486T	probably benign	Het
Faim2	C	T	15: 99,425,460 (GRCm39)		probably null	Het
Fance	T	C	17: 28,537,293 (GRCm39)		probably benign	Het
Fancm	G	T	12: 65,168,480 (GRCm39)	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,351,496 (GRCm39)	N248I	probably damaging	Het
Foxo3	G	A	10: 42,073,774 (GRCm39)	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797 (GRCm39)	Y74H	probably damaging	Het
Gatd1	A	C	7: 140,990,981 (GRCm39)	D55E	probably benign	Het
Gpr152	C	A	19: 4,193,223 (GRCm39)	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,643,268 (GRCm39)	T63A	probably benign	Het
Hltf	T	C	3: 20,118,865 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,590,030 (GRCm39)	Q402L	probably damaging	Het
Ints3	A	G	3: 90,322,828 (GRCm39)	L134S	probably benign	Het
Kmt2e	A	C	5: 23,697,313 (GRCm39)	R590S	probably damaging	Het
Lefty1	A	T	1: 180,765,277 (GRCm39)	N282Y	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,866,915 (GRCm39)	V660A	probably benign	Het
Lyst	T	C	13: 13,824,935 (GRCm39)	S1517P	probably benign	Het
Mcoln2	A	G	3: 145,881,468 (GRCm39)	H208R	probably benign	Het
Mdga2	C	T	12: 66,517,775 (GRCm39)		probably benign	Het
Mpp2	T	A	11: 101,955,259 (GRCm39)	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 47,818,526 (GRCm39)	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,343,500 (GRCm39)	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,274,722 (GRCm39)		probably null	Het
Ncoa6	T	C	2: 155,233,081 (GRCm39)		probably benign	Het
Nfib	C	A	4: 82,422,967 (GRCm39)		probably null	Het
Nostrin	G	T	2: 68,975,156 (GRCm39)	G24*	probably null	Het
Nudc	A	G	4: 133,260,576 (GRCm39)	Y293H	probably damaging	Het
Or51a42	T	A	7: 103,707,940 (GRCm39)	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,225,325 (GRCm39)	Y41*	probably null	Het
Pigt	T	C	2: 164,343,544 (GRCm39)	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,012,972 (GRCm39)	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,341,096 (GRCm39)	T476I	probably benign	Het
Ptprn2	T	A	12: 116,788,016 (GRCm39)	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,008,517 (GRCm39)	S71N	probably benign	Het
Rnf213	A	G	11: 119,310,893 (GRCm39)	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,526,537 (GRCm39)		noncoding transcript	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Secisbp2	T	A	13: 51,806,768 (GRCm39)	F54L	possibly damaging	Het
Senp1	A	T	15: 97,954,731 (GRCm39)	H484Q	probably benign	Het
Slc12a1	T	C	2: 124,995,913 (GRCm39)	I22T	possibly damaging	Het
Slc25a36	A	G	9: 96,972,172 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,140,731 (GRCm39)	S1443T	probably benign	Het
Sv2c	T	C	13: 96,123,319 (GRCm39)	T385A	probably benign	Het
Tas2r131	T	A	6: 132,933,936 (GRCm39)	H291L	probably damaging	Het
Thbs3	A	G	3: 89,124,147 (GRCm39)	D80G	probably damaging	Het
Tnxb	C	T	17: 34,908,394 (GRCm39)	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996 (GRCm39)	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,846,837 (GRCm39)	M216I	probably benign	Het
Wdr17	T	A	8: 55,092,911 (GRCm39)	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,842,762 (GRCm39)	V413I	probably damaging	Het
Zfp141	T	C	7: 42,126,111 (GRCm39)		probably null	Het
Zfp169	T	C	13: 48,643,634 (GRCm39)	I498V	probably benign	Het

Other mutations in Kcna10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Kcna10	APN	3	107,102,044 (GRCm39)	missense	probably damaging	1.00
IGL00481:Kcna10	APN	3	107,102,830 (GRCm39)	missense	probably benign
IGL00645:Kcna10	APN	3	107,102,781 (GRCm39)	missense	possibly damaging	0.95
IGL00974:Kcna10	APN	3	107,102,647 (GRCm39)	missense	probably damaging	1.00
IGL03108:Kcna10	APN	3	107,102,259 (GRCm39)	missense	probably benign	0.00
R0020:Kcna10	UTSW	3	107,102,736 (GRCm39)	missense	probably damaging	1.00
R0421:Kcna10	UTSW	3	107,101,820 (GRCm39)	missense	probably damaging	1.00
R0811:Kcna10	UTSW	3	107,102,575 (GRCm39)	missense	possibly damaging	0.89
R0812:Kcna10	UTSW	3	107,102,575 (GRCm39)	missense	possibly damaging	0.89
R2176:Kcna10	UTSW	3	107,102,032 (GRCm39)	missense	probably damaging	1.00
R4405:Kcna10	UTSW	3	107,102,781 (GRCm39)	missense	possibly damaging	0.95
R4668:Kcna10	UTSW	3	107,102,010 (GRCm39)	missense	possibly damaging	0.83
R4703:Kcna10	UTSW	3	107,101,926 (GRCm39)	missense	probably benign	0.22
R4736:Kcna10	UTSW	3	107,102,808 (GRCm39)	missense	probably benign
R5227:Kcna10	UTSW	3	107,101,744 (GRCm39)	missense	probably damaging	1.00
R5564:Kcna10	UTSW	3	107,101,545 (GRCm39)	missense	probably benign
R5735:Kcna10	UTSW	3	107,102,394 (GRCm39)	missense	probably benign
R7418:Kcna10	UTSW	3	107,102,362 (GRCm39)	missense	probably benign	0.12
R7464:Kcna10	UTSW	3	107,101,395 (GRCm39)	missense	probably damaging	0.99
R7699:Kcna10	UTSW	3	107,102,856 (GRCm39)	missense	probably damaging	1.00
R7700:Kcna10	UTSW	3	107,102,856 (GRCm39)	missense	probably damaging	1.00
R7978:Kcna10	UTSW	3	107,101,663 (GRCm39)	missense	probably damaging	1.00
R8068:Kcna10	UTSW	3	107,101,726 (GRCm39)	missense	possibly damaging	0.58
R8744:Kcna10	UTSW	3	107,101,702 (GRCm39)	missense	probably damaging	1.00
R8932:Kcna10	UTSW	3	107,101,419 (GRCm39)	missense	probably damaging	0.96
R9137:Kcna10	UTSW	3	107,102,497 (GRCm39)	missense	probably damaging	1.00
R9728:Kcna10	UTSW	3	107,101,513 (GRCm39)	missense	possibly damaging	0.89
X0026:Kcna10	UTSW	3	107,102,473 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTGAGTACCCCGAGAGCTC -3'
(R):5'- ATGGCCAGGGACATGTTCTG -3'

Sequencing Primer
(F):5'- AGAGCTCCAGTGCAGCTC -3'
(R):5'- ACATGTTCTGCTGGGCAC -3'

Posted On

2015-10-21