Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Kcnc4'

545436

Institutional Source

Beutler Lab

Gene Symbol

Kcnc4

Ensembl Gene

ENSMUSG00000027895

Gene Name

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

Synonyms

Kcr2-4, Kv3.4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107438303-107459552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107458862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 10 (Y10C)

Ref Sequence

ENSEMBL: ENSMUSP00000009617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009617]

AlphaFold

Q8R1C0

Predicted Effect

probably benign
Transcript: ENSMUST00000009617
AA Change: Y10C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: Y10C

Domain	Start	End	E-Value	Type
Pfam:Potassium_chann	1	29	3e-23	PFAM
BTB	36	155	4.66e-16	SMART
low complexity region	168	185	N/A	INTRINSIC
low complexity region	194	211	N/A	INTRINSIC
Pfam:Ion_trans	229	487	2.6e-46	PFAM
Pfam:Ion_trans_2	386	480	3e-12	PFAM
low complexity region	489	505	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	Het

Other mutations in Kcnc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Kcnc4	APN	3	107447873	missense	probably benign	0.01
IGL00899:Kcnc4	APN	3	107458463	missense	possibly damaging	0.94
IGL01755:Kcnc4	APN	3	107448175	missense	probably damaging	1.00
IGL01895:Kcnc4	APN	3	107448218	missense	probably benign	0.01
IGL02741:Kcnc4	APN	3	107447978	missense	probably damaging	0.98
IGL03393:Kcnc4	APN	3	107447927	missense	possibly damaging	0.75
PIT4151001:Kcnc4	UTSW	3	107458703	missense	probably damaging	1.00
PIT4378001:Kcnc4	UTSW	3	107447563	missense	probably benign
R0158:Kcnc4	UTSW	3	107458604	missense	probably benign	0.21
R0415:Kcnc4	UTSW	3	107445433	missense	probably damaging	1.00
R0704:Kcnc4	UTSW	3	107447963	missense	possibly damaging	0.92
R0747:Kcnc4	UTSW	3	107448154	missense	probably damaging	1.00
R1481:Kcnc4	UTSW	3	107448218	missense	probably benign	0.02
R1540:Kcnc4	UTSW	3	107445427	splice site	probably null
R1602:Kcnc4	UTSW	3	107448204	missense	possibly damaging	0.96
R2422:Kcnc4	UTSW	3	107445547	missense	probably benign	0.30
R3750:Kcnc4	UTSW	3	107448190	missense	probably benign	0.36
R4791:Kcnc4	UTSW	3	107447543	missense	probably benign	0.32
R4815:Kcnc4	UTSW	3	107458266	missense	probably benign	0.37
R5216:Kcnc4	UTSW	3	107439441	missense	probably benign
R5259:Kcnc4	UTSW	3	107448085	missense	probably damaging	1.00
R5317:Kcnc4	UTSW	3	107458739	missense	probably damaging	0.98
R5474:Kcnc4	UTSW	3	107447891	missense	possibly damaging	0.82
R5783:Kcnc4	UTSW	3	107447872	missense	possibly damaging	0.69
R5865:Kcnc4	UTSW	3	107458199	critical splice donor site	probably null
R6228:Kcnc4	UTSW	3	107448377	missense	probably damaging	0.99
R6536:Kcnc4	UTSW	3	107448196	missense	possibly damaging	0.81
R7319:Kcnc4	UTSW	3	107458784	missense	probably benign	0.21
R7687:Kcnc4	UTSW	3	107458609	small insertion	probably benign
R8436:Kcnc4	UTSW	3	107458768	missense	probably damaging	0.96
R8707:Kcnc4	UTSW	3	107448133	missense	possibly damaging	0.76
R8844:Kcnc4	UTSW	3	107448080	missense	probably damaging	1.00
R8868:Kcnc4	UTSW	3	107448136	missense	probably damaging	1.00
R9542:Kcnc4	UTSW	3	107458255	nonsense	probably null
X0020:Kcnc4	UTSW	3	107447651	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGTGCCGATCAAAGAAGAACTC -3'
(R):5'- AAAGCCAACTCTTCCTGCTC -3'

Sequencing Primer
(F):5'- ATCCGACTCTGGCCGAC -3'
(R):5'- AGAGCCACTCCGCAGAAGG -3'

Posted On

2019-05-13