Mutagenetix > Incidental Mutation

Incidental Mutation 'R4815:Kcnc4'

369707

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

042433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R4815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107438303-107459552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107458266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 209 (C209S)

Ref Sequence

ENSEMBL: ENSMUSP00000009617 (fasta)

Gene Model

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

AlphaFold

Q8R1C0

Predicted Effect

probably benign
Transcript: ENSMUST00000009617
AA Change: C209S

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: C209S

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

0.2776

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

96% (76/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	T	18: 65,349,955	N327K	probably damaging	Het
Ank2	T	C	3: 126,936,761	T675A	probably benign	Het
Arap3	T	C	18: 37,973,243	T1516A	probably benign	Het
Asb18	A	T	1: 90,014,425	N51K	probably damaging	Het
BC003331	A	G	1: 150,374,846	C294R	probably damaging	Het
C7	A	G	15: 5,059,405	V18A	probably benign	Het
Caap1	A	G	4: 94,501,260	V279A	probably benign	Het
Cacnb2	A	G	2: 14,874,780	D21G	probably damaging	Het
Ccdc171	T	C	4: 83,795,221	S1166P	probably damaging	Het
Chgb	A	T	2: 132,793,299	H387L	probably benign	Het
Chp2	G	A	7: 122,220,900	R91Q	probably damaging	Het
Chuk	C	A	19: 44,077,247	G703*	probably null	Het
Clmn	T	C	12: 104,785,566	D210G	probably damaging	Het
Cyp4f18	A	G	8: 71,995,995	V270A	possibly damaging	Het
Dgcr2	A	G	16: 17,858,619		probably benign	Het
Diaph1	A	T	18: 37,895,203	V411D	unknown	Het
Dkk2	C	T	3: 132,173,785	A75V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnase2a	T	C	8: 84,909,877	V187A	probably benign	Het
Dusp19	A	G	2: 80,630,945	M193V	probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Gm37596	C	T	3: 93,692,286	V259M	probably benign	Het
Golgb1	A	T	16: 36,913,115	Q908L	possibly damaging	Het
Hsp90aa1	T	C	12: 110,695,226	M119V	possibly damaging	Het
Ice2	C	T	9: 69,407,118	R50C	probably damaging	Het
Ifi208	A	T	1: 173,682,837	E186V	probably damaging	Het
Ift122	A	G	6: 115,881,556	K166E	possibly damaging	Het
Jcad	T	A	18: 4,675,223	L995Q	possibly damaging	Het
Kmt2a	G	A	9: 44,821,256		probably benign	Het
Lrriq1	T	A	10: 103,144,878	L1465F	probably benign	Het
Map3k7	C	A	4: 31,988,592	T247N	probably damaging	Het
Mctp2	T	G	7: 72,259,349	Q72P	possibly damaging	Het
Miga1	T	C	3: 152,290,806	Y335C	probably benign	Het
Ms4a14	A	T	19: 11,314,277	N19K	probably benign	Het
Mylk	G	A	16: 34,894,925	R541Q	probably damaging	Het
Nav3	T	C	10: 109,823,552	T735A	probably benign	Het
Nlgn1	T	A	3: 25,436,030	H511L	probably damaging	Het
Nlrp4a	A	T	7: 26,450,808	E613D	probably benign	Het
Nuf2	A	G	1: 169,510,468	S247P	probably damaging	Het
Ocstamp	A	G	2: 165,398,182	V28A	probably benign	Het
Odf2	A	C	2: 29,902,240	E155D	possibly damaging	Het
Olfr285	T	C	15: 98,312,680	N290S	probably damaging	Het
Olfr695	G	A	7: 106,874,237	P3S	probably benign	Het
Otud7a	T	C	7: 63,729,910		probably null	Het
Pacsin2	A	T	15: 83,385,059	D11E	probably damaging	Het
Pcdhga5	G	A	18: 37,695,194	V232I	probably damaging	Het
Plcb3	A	G	19: 6,962,984	I439T	possibly damaging	Het
Rag1	A	G	2: 101,643,516	V427A	probably damaging	Het
Ranbp10	A	T	8: 105,826,125	C128*	probably null	Het
Rbm8a2	A	G	1: 175,978,458	V151A	probably damaging	Het
S100pbp	A	G	4: 129,150,933		probably benign	Het
Serpinb5	G	T	1: 106,872,339	L86F	probably damaging	Het
Sgo2b	T	C	8: 63,931,414	I183V	probably benign	Het
Slc25a25	A	T	2: 32,420,410	D112E	probably damaging	Het
Slc30a5	C	T	13: 100,813,710	V103I	probably damaging	Het
Slc9a2	A	T	1: 40,718,849	I183F	probably benign	Het
Srrm4	T	A	5: 116,475,190	K141N	unknown	Het
Tbc1d20	T	C	2: 152,311,989		probably benign	Het
Tep1	A	G	14: 50,841,302	L1498P	probably damaging	Het
Tgfbi	T	C	13: 56,632,120	M494T	probably benign	Het
Tox	A	G	4: 6,823,033	S95P	probably benign	Het
Tpr	G	A	1: 150,398,608	V163I	probably benign	Het
Trpm7	A	G	2: 126,858,492	S2P	probably damaging	Het
Ttn	A	G	2: 76,716,085	M32328T	probably damaging	Het
Vps39	A	T	2: 120,338,559	N289K	probably benign	Het
Xdh	C	T	17: 73,906,215	A847T	probably damaging	Het
Xndc1	G	A	7: 102,073,316	G63R	probably null	Het
Ythdc2	A	G	18: 44,885,240	S1330G	probably benign	Het
Zc3h14	C	G	12: 98,752,848	D157E	probably damaging	Het
Zc3h7b	A	T	15: 81,793,663	K949N	probably damaging	Het
Zp3r	A	T	1: 130,598,912	Y185N	probably damaging	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
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
R7018:Kcnc4	UTSW	3	107458862	missense	probably benign	0.00
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'- GCAGGTAGTTATCGTCTGCC -3'
(R):5'- TCGATGAAACAGATGTGGAACC -3'

Sequencing Primer
(F):5'- TATCGTCTGCCAGGTACGTCAG -3'
(R):5'- ACAGATGTGGAACCCTGCTG -3'

Posted On

2016-02-04