Mutagenetix > Incidental Mutations

Incidental Mutation 'R0650:Kcna4'

62184

Institutional Source

Beutler Lab

Gene Symbol

Kcna4

Ensembl Gene

ENSMUSG00000042604

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 4

Synonyms

Kv1.4

MMRRC Submission

038835-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

107290639-107298502 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 107295582 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 220 (Y220*)

Ref Sequence

ENSEMBL: ENSMUSP00000037958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037012]

AlphaFold

Q61423

Predicted Effect

probably null
Transcript: ENSMUST00000037012
AA Change: Y220*

SMART Domains

Protein: ENSMUSP00000037958
Gene: ENSMUSG00000042604
AA Change: Y220*

Domain	Start	End	E-Value	Type
Pfam:K_channel_TID	1	74	1.5e-42	PFAM
low complexity region	77	89	N/A	INTRINSIC
coiled coil region	112	139	N/A	INTRINSIC
low complexity region	160	166	N/A	INTRINSIC
BTB	177	277	1.67e-8	SMART
Pfam:Ion_trans	307	572	2.8e-51	PFAM
Pfam:Ion_trans_2	480	565	9e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173191

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

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 A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal; however, a small subset of mutants exhibit spontaneous seizure activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 69,945,785	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,910,056	D120G	probably damaging	Het
4930548H24Rik	T	C	5: 31,485,968		probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Afg3l2	G	T	18: 67,415,557	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,656,221		probably benign	Het
Arid2	T	A	15: 96,402,049	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,164	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,781,699	D403V	possibly damaging	Het
BC024978	A	T	7: 27,202,647	H233L	probably damaging	Het
Bnc2	T	C	4: 84,293,196	D407G	probably benign	Het
Cdan1	A	G	2: 120,726,045	V633A	probably benign	Het
Cfap46	T	C	7: 139,605,655	Y2482C	unknown	Het
Chd8	T	C	14: 52,202,304	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,323,909	N18D	probably damaging	Het
Fis1	T	A	5: 136,962,194	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424		probably null	Het
Gm2381	C	T	7: 42,820,080	G207R	probably damaging	Het
Gpr89	T	A	3: 96,897,324		probably benign	Het
Gtf2i	A	G	5: 134,261,837		probably benign	Het
Herc2	T	G	7: 56,113,210	S896A	probably damaging	Het
Huwe1	T	C	X: 151,876,313	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Krt18	A	G	15: 102,029,485	D139G	possibly damaging	Het
Krt83	T	C	15: 101,487,040	N392D	probably damaging	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,143,876	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Lrrk1	G	A	7: 66,292,336	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,482,918	I51V	probably damaging	Het
Myt1	A	T	2: 181,782,615	R25*	probably null	Het
Npdc1	C	T	2: 25,408,009	T199I	probably benign	Het
Nup98	T	A	7: 102,152,453	Y755F	probably damaging	Het
Olfr494	T	A	7: 108,367,789	C100S	probably damaging	Het
Olfr502	G	T	7: 108,523,082	N289K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr936	T	A	9: 39,046,700	M240L	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pde10a	A	T	17: 8,942,965	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,079,708	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475		probably benign	Het
Pidd1	A	T	7: 141,440,813	L457*	probably null	Het
Pik3c2a	A	G	7: 116,346,247		probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,753,363		probably benign	Het
Prr13	A	C	15: 102,462,215	*138C	probably null	Het
Prrc2b	T	C	2: 32,229,255		probably benign	Het
Psph	T	C	5: 129,791,570		probably benign	Het
Ripor1	A	G	8: 105,618,114		probably benign	Het
Scg3	A	G	9: 75,669,335	S253P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Skor2	T	C	18: 76,876,560	F940L	probably benign	Het
Slbp	T	C	5: 33,645,489		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Susd5	A	T	9: 114,082,535	H171L	possibly damaging	Het
Sybu	T	C	15: 44,673,268	E354G	probably benign	Het
Synpo	T	C	18: 60,602,340	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,628,159	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,187,365	I111T	probably benign	Het
Tnc	T	C	4: 64,008,734	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 69,776,176	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,630	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,784,758	V22A	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,030,807		probably benign	Het
Ugt2b5	T	A	5: 87,139,768	Q191L	probably benign	Het
Urod	T	C	4: 116,991,276	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	Het
Znfx1	G	A	2: 167,047,654	Q723*	probably null	Het

Other mutations in Kcna4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Kcna4	APN	2	107295862	missense	probably damaging	1.00
IGL01025:Kcna4	APN	2	107296391	missense	probably damaging	0.99
IGL01433:Kcna4	APN	2	107296733	missense	probably damaging	0.99
IGL01805:Kcna4	APN	2	107296498	missense	probably damaging	1.00
IGL02121:Kcna4	APN	2	107296618	missense	possibly damaging	0.92
Pinched	UTSW	2	107296549	missense	probably damaging	1.00
R6381_Kcna4_300	UTSW	2	107294972	missense	probably benign	0.05
PIT4377001:Kcna4	UTSW	2	107296860	missense	possibly damaging	0.83
R0255:Kcna4	UTSW	2	107296562	missense	probably damaging	1.00
R0761:Kcna4	UTSW	2	107296072	missense	probably benign	0.02
R1211:Kcna4	UTSW	2	107295315	small deletion	probably benign
R1553:Kcna4	UTSW	2	107296687	missense	probably benign	0.02
R1854:Kcna4	UTSW	2	107296484	missense	probably damaging	1.00
R1915:Kcna4	UTSW	2	107296778	missense	probably benign	0.01
R1974:Kcna4	UTSW	2	107296220	missense	possibly damaging	0.65
R4002:Kcna4	UTSW	2	107295914	missense	probably damaging	1.00
R4163:Kcna4	UTSW	2	107295806	missense	probably damaging	1.00
R4413:Kcna4	UTSW	2	107295373	missense	probably benign	0.01
R4474:Kcna4	UTSW	2	107296007	missense	probably benign
R4492:Kcna4	UTSW	2	107296091	missense	probably damaging	1.00
R4525:Kcna4	UTSW	2	107295065	missense	possibly damaging	0.93
R4766:Kcna4	UTSW	2	107296543	missense	probably damaging	1.00
R4787:Kcna4	UTSW	2	107296468	missense	probably damaging	1.00
R5423:Kcna4	UTSW	2	107295806	nonsense	probably null
R5725:Kcna4	UTSW	2	107296876	missense	possibly damaging	0.48
R6381:Kcna4	UTSW	2	107294972	missense	probably benign	0.05
R6399:Kcna4	UTSW	2	107296549	missense	probably damaging	1.00
R6787:Kcna4	UTSW	2	107295325	missense	possibly damaging	0.91
R6891:Kcna4	UTSW	2	107296307	missense	probably damaging	1.00
R7057:Kcna4	UTSW	2	107295320	missense	probably damaging	0.96
R7250:Kcna4	UTSW	2	107296318	missense	possibly damaging	0.92
R7522:Kcna4	UTSW	2	107296255	missense	probably damaging	1.00
R7799:Kcna4	UTSW	2	107295892	missense	possibly damaging	0.70
R8758:Kcna4	UTSW	2	107296149	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCGTACACAGACCTGCTGC -3'
(R):5'- AAGGTCCCTATCATCCCTGAACTCC -3'

Sequencing Primer
(F):5'- TGCTGCCACAGGATGATG -3'
(R):5'- TGAACTCCGGCAAGGTTTC -3'

Posted On

2013-07-30