Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Kcna4'

537189

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

044985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107120984-107128847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107126652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 462 (S462F)

Ref Sequence

ENSEMBL: ENSMUSP00000037958 (fasta)

Gene Model

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

AlphaFold

Q61423

Predicted Effect

probably damaging
Transcript: ENSMUST00000037012
AA Change: S462F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037958
Gene: ENSMUSG00000042604
AA Change: S462F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agbl5	G	T	5: 31,052,522 (GRCm39)	R61L	probably damaging	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Btn2a2	T	C	13: 23,667,014 (GRCm39)	D197G	probably benign	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Eral1	C	T	11: 77,966,559 (GRCm39)	V234I	possibly damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Gzf1	A	T	2: 148,526,689 (GRCm39)	K387*	probably null	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Ltf	T	C	9: 110,854,181 (GRCm39)	V332A	probably benign	Het
Mapkap1	T	C	2: 34,453,153 (GRCm39)	F349L	probably damaging	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or2g1	A	G	17: 38,106,395 (GRCm39)	Q20R	probably benign	Het
Or52e18	A	G	7: 104,609,192 (GRCm39)	I249T	probably damaging	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	probably benign	Het

Other mutations in Kcna4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Kcna4	APN	2	107,126,207 (GRCm39)	missense	probably damaging	1.00
IGL01025:Kcna4	APN	2	107,126,736 (GRCm39)	missense	probably damaging	0.99
IGL01433:Kcna4	APN	2	107,127,078 (GRCm39)	missense	probably damaging	0.99
IGL01805:Kcna4	APN	2	107,126,843 (GRCm39)	missense	probably damaging	1.00
IGL02121:Kcna4	APN	2	107,126,963 (GRCm39)	missense	possibly damaging	0.92
Pinched	UTSW	2	107,126,894 (GRCm39)	missense	probably damaging	1.00
R6381_Kcna4_300	UTSW	2	107,125,317 (GRCm39)	missense	probably benign	0.05
PIT4377001:Kcna4	UTSW	2	107,127,205 (GRCm39)	missense	possibly damaging	0.83
R0255:Kcna4	UTSW	2	107,126,907 (GRCm39)	missense	probably damaging	1.00
R0650:Kcna4	UTSW	2	107,125,927 (GRCm39)	nonsense	probably null
R0761:Kcna4	UTSW	2	107,126,417 (GRCm39)	missense	probably benign	0.02
R1211:Kcna4	UTSW	2	107,125,660 (GRCm39)	small deletion	probably benign
R1553:Kcna4	UTSW	2	107,127,032 (GRCm39)	missense	probably benign	0.02
R1854:Kcna4	UTSW	2	107,126,829 (GRCm39)	missense	probably damaging	1.00
R1915:Kcna4	UTSW	2	107,127,123 (GRCm39)	missense	probably benign	0.01
R1974:Kcna4	UTSW	2	107,126,565 (GRCm39)	missense	possibly damaging	0.65
R4002:Kcna4	UTSW	2	107,126,259 (GRCm39)	missense	probably damaging	1.00
R4163:Kcna4	UTSW	2	107,126,151 (GRCm39)	missense	probably damaging	1.00
R4413:Kcna4	UTSW	2	107,125,718 (GRCm39)	missense	probably benign	0.01
R4474:Kcna4	UTSW	2	107,126,352 (GRCm39)	missense	probably benign
R4492:Kcna4	UTSW	2	107,126,436 (GRCm39)	missense	probably damaging	1.00
R4525:Kcna4	UTSW	2	107,125,410 (GRCm39)	missense	possibly damaging	0.93
R4766:Kcna4	UTSW	2	107,126,888 (GRCm39)	missense	probably damaging	1.00
R4787:Kcna4	UTSW	2	107,126,813 (GRCm39)	missense	probably damaging	1.00
R5423:Kcna4	UTSW	2	107,126,151 (GRCm39)	nonsense	probably null
R5725:Kcna4	UTSW	2	107,127,221 (GRCm39)	missense	possibly damaging	0.48
R6381:Kcna4	UTSW	2	107,125,317 (GRCm39)	missense	probably benign	0.05
R6399:Kcna4	UTSW	2	107,126,894 (GRCm39)	missense	probably damaging	1.00
R6787:Kcna4	UTSW	2	107,125,670 (GRCm39)	missense	possibly damaging	0.91
R7057:Kcna4	UTSW	2	107,125,665 (GRCm39)	missense	probably damaging	0.96
R7250:Kcna4	UTSW	2	107,126,663 (GRCm39)	missense	possibly damaging	0.92
R7522:Kcna4	UTSW	2	107,126,600 (GRCm39)	missense	probably damaging	1.00
R7799:Kcna4	UTSW	2	107,126,237 (GRCm39)	missense	possibly damaging	0.70
R8758:Kcna4	UTSW	2	107,126,494 (GRCm39)	missense	probably damaging	1.00
R9618:Kcna4	UTSW	2	107,126,374 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GATGCTTTGCTTGTCCCAGC -3'
(R):5'- TGTCATGGTTACCACAGCC -3'

Sequencing Primer
(F):5'- GCACTCTTCTTCAAAAACATCATG -3'
(R):5'- CCACCAAAACGCATCTGGAATG -3'

Posted On

2018-10-18