Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Kcnc4'

32180

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

038438-MU

Accession Numbers

Essential gene?

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

Stock #

R0158 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

107345619-107366868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107365920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 96 (C96F)

Ref Sequence

ENSEMBL: ENSMUSP00000009617 (fasta)

Gene Model

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

AlphaFold

Q8R1C0

Predicted Effect

probably benign
Transcript: ENSMUST00000009617
AA Change: C96F

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: C96F

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

0.0640

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,316 (GRCm39)	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840 (GRCm39)	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,033,861 (GRCm39)	P891L	probably damaging	Het
Ampd1	T	A	3: 102,999,046 (GRCm39)	Y400*	probably null	Het
Ap1g1	T	C	8: 110,582,267 (GRCm39)	S724P	probably benign	Het
Bst2	T	A	8: 71,989,861 (GRCm39)	T71S	possibly damaging	Het
C3	A	G	17: 57,531,851 (GRCm39)		probably null	Het
Cacna2d1	C	A	5: 16,566,815 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,213,709 (GRCm39)	H43Y	possibly damaging	Het
Ccdc71	T	G	9: 108,341,336 (GRCm39)	V383G	probably benign	Het
Cd109	A	T	9: 78,596,214 (GRCm39)	Q849L	possibly damaging	Het
Cdkn2a	A	T	4: 89,195,004 (GRCm39)	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,946,057 (GRCm39)	E161G	probably benign	Het
Cggbp1	C	T	16: 64,676,201 (GRCm39)	S89L	possibly damaging	Het
Crocc	A	T	4: 140,769,553 (GRCm39)		probably benign	Het
Cspg4b	T	A	13: 113,505,687 (GRCm39)	L2272*	probably null	Het
Eef1akmt3	G	A	10: 126,869,142 (GRCm39)	Q111*	probably null	Het
Exoc7	T	C	11: 116,186,118 (GRCm39)	N361S	probably benign	Het
Fat2	G	T	11: 55,187,011 (GRCm39)	S1278R	probably benign	Het
Fbxo42	A	G	4: 140,927,640 (GRCm39)	N640S	probably benign	Het
Fbxw25	A	G	9: 109,483,720 (GRCm39)	V164A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,917 (GRCm39)	I1848V	probably damaging	Het
Foxs1	T	C	2: 152,774,330 (GRCm39)	E241G	probably damaging	Het
Fras1	A	T	5: 96,924,493 (GRCm39)	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,639,206 (GRCm39)	V432E	probably benign	Het
H3c2	T	A	13: 23,936,693 (GRCm39)	C111S	probably damaging	Het
Herc1	T	A	9: 66,403,203 (GRCm39)	L4374*	probably null	Het
Ift122	T	C	6: 115,901,445 (GRCm39)		probably benign	Het
Itgav	C	A	2: 83,622,381 (GRCm39)	N654K	probably benign	Het
Itih5	T	C	2: 10,239,803 (GRCm39)		probably benign	Het
Jak2	C	A	19: 29,289,157 (GRCm39)	T1103K	probably benign	Het
Med13l	C	A	5: 118,880,514 (GRCm39)	S1202Y	unknown	Het
Mefv	T	C	16: 3,533,320 (GRCm39)	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,222,608 (GRCm39)	T1226A	probably benign	Het
Nktr	C	T	9: 121,579,757 (GRCm39)		probably benign	Het
Nudt5	G	A	2: 5,867,114 (GRCm39)	V61M	probably damaging	Het
Or51a39	C	T	7: 102,363,162 (GRCm39)	A153T	probably benign	Het
Pakap	A	G	4: 57,709,649 (GRCm39)	D198G	possibly damaging	Het
Pcdhb2	A	C	18: 37,430,283 (GRCm39)	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,603,076 (GRCm39)	D446G	probably benign	Het
Pnp2	G	A	14: 51,201,761 (GRCm39)	R249H	probably damaging	Het
Rgs3	A	T	4: 62,542,121 (GRCm39)	I32F	probably damaging	Het
Rnf139	A	G	15: 58,770,727 (GRCm39)	T251A	probably benign	Het
Rnf41	A	G	10: 128,274,104 (GRCm39)	E252G	probably damaging	Het
Rxfp2	T	A	5: 149,975,093 (GRCm39)	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042 (GRCm39)	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,183,267 (GRCm39)	D43G	probably damaging	Het
Sftpc	T	C	14: 70,758,887 (GRCm39)	K154R	probably null	Het
Simc1	A	G	13: 54,672,530 (GRCm39)	T293A	probably benign	Het
Skint6	A	T	4: 113,042,011 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,225,208 (GRCm39)		probably benign	Het
Spata31e2	T	G	1: 26,723,032 (GRCm39)	H716P	probably damaging	Het
Ston2	A	T	12: 91,707,376 (GRCm39)	I78N	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tent4b	G	A	8: 88,977,371 (GRCm39)	G391D	probably damaging	Het
Tiam1	C	T	16: 89,589,889 (GRCm39)		probably benign	Het
Tnfsf15	T	C	4: 63,648,229 (GRCm39)	H137R	possibly damaging	Het
Tpte	G	A	8: 22,817,755 (GRCm39)	R247H	possibly damaging	Het
Trim2	T	C	3: 84,117,476 (GRCm39)		probably benign	Het
Ulk1	A	T	5: 110,936,810 (GRCm39)		probably benign	Het
Utp4	T	G	8: 107,640,018 (GRCm39)	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,403,798 (GRCm39)	I65F	probably damaging	Het
Vps54	A	T	11: 21,256,962 (GRCm39)	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,831,145 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,568,993 (GRCm39)	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,120,212 (GRCm39)	Q218*	probably null	Het
Zfp820	G	A	17: 22,038,800 (GRCm39)	T176I	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
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
R1481:Kcnc4	UTSW	3	107,355,534 (GRCm39)	missense	probably benign	0.02
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'- AGGTACGTCAGTCTCCTTCCAACC -3'
(R):5'- AGATCATCATCAACGTGGGCGG -3'

Sequencing Primer
(F):5'- TCTCGAAGATGTCCAGTGC -3'
(R):5'- GGCACGCGACATGAGAC -3'

Posted On

2013-04-26