Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Kcnc4'

164354

Institutional Source

Beutler Lab

Gene Symbol

Kcnc4

Ensembl Gene

ENSMUSG00000027895

Gene Name

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

Synonyms

Kv3.4, Kcr2-4

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107345619-107366868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107355534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 305 (V305M)

Ref Sequence

ENSEMBL: ENSMUSP00000009617 (fasta)

Gene Model

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

AlphaFold

Q8R1C0

Predicted Effect

probably benign
Transcript: ENSMUST00000009617
AA Change: V305M

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: V305M

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

Meta Mutation Damage Score

0.4520

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef5	A	G	6: 43,251,568 (GRCm39)	H773R	probably damaging	Het
Bltp1	T	C	3: 37,062,583 (GRCm39)	V3365A	probably damaging	Het
Bmp3	G	A	5: 99,020,329 (GRCm39)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,148,722 (GRCm39)		probably benign	Het
Ccdc178	C	T	18: 22,238,678 (GRCm39)	G313D	probably benign	Het
Cd300ld2	T	A	11: 114,903,459 (GRCm39)	I129F	probably benign	Het
Cep170	T	C	1: 176,609,951 (GRCm39)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,637,696 (GRCm39)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,045,393 (GRCm39)	N336K	probably damaging	Het
Coil	T	A	11: 88,864,886 (GRCm39)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,183,041 (GRCm39)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,795,094 (GRCm39)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,036,032 (GRCm39)	D293N	probably benign	Het
Cyp2f2	T	C	7: 26,821,302 (GRCm39)	S72P	probably benign	Het
Dip2c	G	A	13: 9,601,902 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,731,918 (GRCm39)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,583,941 (GRCm39)	V469I	probably benign	Het
Efcab14	A	G	4: 115,613,714 (GRCm39)	T221A	probably benign	Het
Ehbp1	T	C	11: 21,956,782 (GRCm39)	*1207W	probably null	Het
Eln	T	C	5: 134,735,426 (GRCm39)	K786E	probably damaging	Het
Fyb1	C	T	15: 6,649,128 (GRCm39)	P385S	probably benign	Het
Galr1	A	G	18: 82,423,866 (GRCm39)	I137T	possibly damaging	Het
Gcm1	A	T	9: 77,966,999 (GRCm39)	K73*	probably null	Het
Gemin5	T	C	11: 58,032,480 (GRCm39)	N775D	probably damaging	Het
Gli3	C	T	13: 15,788,435 (GRCm39)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,518,089 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,137 (GRCm39)	D569G	probably damaging	Het
Grina	T	A	15: 76,133,289 (GRCm39)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,292,310 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,916,338 (GRCm39)	F724L	probably benign	Het
Kpnb1	T	C	11: 97,069,136 (GRCm39)	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,586,809 (GRCm39)	T269A	probably benign	Het
Lamc1	T	C	1: 153,097,380 (GRCm39)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,755,650 (GRCm39)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,567,679 (GRCm39)	T1681A	unknown	Het
Mettl17	T	C	14: 52,128,160 (GRCm39)	L272P	probably benign	Het
Mib2	T	A	4: 155,741,456 (GRCm39)	S357C	probably benign	Het
Mmp19	C	A	10: 128,634,047 (GRCm39)	T316K	possibly damaging	Het
Mroh9	C	T	1: 162,854,078 (GRCm39)	G774E	probably damaging	Het
Myh1	T	C	11: 67,096,325 (GRCm39)		probably benign	Het
Ncor2	C	A	5: 125,104,202 (GRCm39)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm39)	T51S	probably benign	Het
Nsun3	A	T	16: 62,555,732 (GRCm39)	C265S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,623,517 (GRCm39)	N71K	probably damaging	Het
Or10a5	T	G	7: 106,635,356 (GRCm39)	L5R	probably benign	Het
Or5p73	C	T	7: 108,065,167 (GRCm39)	T212I	probably benign	Het
Orc3	T	A	4: 34,607,228 (GRCm39)	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,575,889 (GRCm39)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,502,616 (GRCm39)	V1241E	probably null	Het
Prpf39	C	T	12: 65,100,088 (GRCm39)	P135S	probably damaging	Het
Psrc1	T	C	3: 108,292,309 (GRCm39)	V34A	probably benign	Het
Rab27a	G	A	9: 72,989,684 (GRCm39)	V52M	probably benign	Het
Rassf9	A	G	10: 102,381,895 (GRCm39)	T424A	probably benign	Het
Ripor3	G	T	2: 167,842,297 (GRCm39)	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,466,867 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,826,516 (GRCm39)	V1366M	probably benign	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Tctn2	T	C	5: 124,745,826 (GRCm39)		noncoding transcript	Het
Tmem45a	A	T	16: 56,631,965 (GRCm39)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,845,487 (GRCm39)	R512S	probably damaging	Het
Trim37	T	A	11: 87,020,585 (GRCm39)	L22*	probably null	Het
Ttc6	A	G	12: 57,783,916 (GRCm39)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,775,960 (GRCm39)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,684,137 (GRCm39)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,715,592 (GRCm39)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,260,086 (GRCm39)	T259A	probably benign	Het

Other mutations in Kcnc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Kcnc4	APN	3	107,355,189 (GRCm39)	missense	probably benign	0.01
IGL00899:Kcnc4	APN	3	107,365,779 (GRCm39)	missense	possibly damaging	0.94
IGL01755:Kcnc4	APN	3	107,355,491 (GRCm39)	missense	probably damaging	1.00
IGL01895:Kcnc4	APN	3	107,355,534 (GRCm39)	missense	probably benign	0.01
IGL02741:Kcnc4	APN	3	107,355,294 (GRCm39)	missense	probably damaging	0.98
IGL03393:Kcnc4	APN	3	107,355,243 (GRCm39)	missense	possibly damaging	0.75
PIT4151001:Kcnc4	UTSW	3	107,366,019 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Kcnc4	UTSW	3	107,354,879 (GRCm39)	missense	probably benign
R0158:Kcnc4	UTSW	3	107,365,920 (GRCm39)	missense	probably benign	0.21
R0415:Kcnc4	UTSW	3	107,352,749 (GRCm39)	missense	probably damaging	1.00
R0704:Kcnc4	UTSW	3	107,355,279 (GRCm39)	missense	possibly damaging	0.92
R0747:Kcnc4	UTSW	3	107,355,470 (GRCm39)	missense	probably damaging	1.00
R1540:Kcnc4	UTSW	3	107,352,743 (GRCm39)	splice site	probably null
R1602:Kcnc4	UTSW	3	107,355,520 (GRCm39)	missense	possibly damaging	0.96
R2422:Kcnc4	UTSW	3	107,352,863 (GRCm39)	missense	probably benign	0.30
R3750:Kcnc4	UTSW	3	107,355,506 (GRCm39)	missense	probably benign	0.36
R4791:Kcnc4	UTSW	3	107,354,859 (GRCm39)	missense	probably benign	0.32
R4815:Kcnc4	UTSW	3	107,365,582 (GRCm39)	missense	probably benign	0.37
R5216:Kcnc4	UTSW	3	107,346,757 (GRCm39)	missense	probably benign
R5259:Kcnc4	UTSW	3	107,355,401 (GRCm39)	missense	probably damaging	1.00
R5317:Kcnc4	UTSW	3	107,366,055 (GRCm39)	missense	probably damaging	0.98
R5474:Kcnc4	UTSW	3	107,355,207 (GRCm39)	missense	possibly damaging	0.82
R5783:Kcnc4	UTSW	3	107,355,188 (GRCm39)	missense	possibly damaging	0.69
R5865:Kcnc4	UTSW	3	107,365,515 (GRCm39)	critical splice donor site	probably null
R6228:Kcnc4	UTSW	3	107,355,693 (GRCm39)	missense	probably damaging	0.99
R6536:Kcnc4	UTSW	3	107,355,512 (GRCm39)	missense	possibly damaging	0.81
R7018:Kcnc4	UTSW	3	107,366,178 (GRCm39)	missense	probably benign	0.00
R7319:Kcnc4	UTSW	3	107,366,100 (GRCm39)	missense	probably benign	0.21
R7687:Kcnc4	UTSW	3	107,365,925 (GRCm39)	small insertion	probably benign
R8436:Kcnc4	UTSW	3	107,366,084 (GRCm39)	missense	probably damaging	0.96
R8707:Kcnc4	UTSW	3	107,355,449 (GRCm39)	missense	possibly damaging	0.76
R8844:Kcnc4	UTSW	3	107,355,396 (GRCm39)	missense	probably damaging	1.00
R8868:Kcnc4	UTSW	3	107,355,452 (GRCm39)	missense	probably damaging	1.00
R9542:Kcnc4	UTSW	3	107,365,571 (GRCm39)	nonsense	probably null
X0020:Kcnc4	UTSW	3	107,354,967 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGCGTACAAAGCGTACCACACG -3'
(R):5'- GCCAGTTATCACTGACTTGACAGCC -3'

Sequencing Primer
(F):5'- GCAGGAAACCCAGCACATC -3'
(R):5'- CCTACAGGTGGTAGCCTTTGC -3'

Posted On

2014-03-28