Mutagenetix > Incidental Mutation

Incidental Mutation 'R8868:Kcnc4'

676067

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

068683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8868 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107345619-107366868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107355452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 332 (E332V)

Ref Sequence

ENSEMBL: ENSMUSP00000009617 (fasta)

Gene Model

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

AlphaFold

Q8R1C0

Predicted Effect

probably damaging
Transcript: ENSMUST00000009617
AA Change: E332V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: E332V

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: 99.7%
20x: 99.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	T	A	9: 26,890,544 (GRCm39)	N255Y	probably damaging	Het
Accsl	A	C	2: 93,696,490 (GRCm39)	L36R	probably benign	Het
Acvr2a	T	A	2: 48,763,469 (GRCm39)	V171E	probably benign	Het
Adgrl3	A	G	5: 81,794,451 (GRCm39)	I491V	probably benign	Het
Ak9	G	A	10: 41,193,842 (GRCm39)		probably null	Het
Ak9	G	T	10: 41,258,869 (GRCm39)	E789*	probably null	Het
Akr1c19	T	A	13: 4,293,070 (GRCm39)	N275K	probably benign	Het
Alg1	A	G	16: 5,061,557 (GRCm39)	H398R	probably benign	Het
Apol11a	T	A	15: 77,401,209 (GRCm39)	I232N	probably damaging	Het
Cacnb2	A	G	2: 14,989,080 (GRCm39)	I437V	probably benign	Het
Catsper4	A	G	4: 133,954,417 (GRCm39)		probably null	Het
Cdhr17	G	A	5: 17,028,152 (GRCm39)	G449D	probably benign	Het
Crnn	T	C	3: 93,055,609 (GRCm39)	C132R	probably benign	Het
Cyp4a14	T	A	4: 115,348,553 (GRCm39)	H337L	probably damaging	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dclre1b	T	C	3: 103,710,654 (GRCm39)	N419S	probably benign	Het
Dip2c	A	G	13: 9,625,503 (GRCm39)	D621G	possibly damaging	Het
Dmwd	T	A	7: 18,814,694 (GRCm39)	L448Q	probably damaging	Het
Dnajc13	G	A	9: 104,042,987 (GRCm39)	H1922Y	probably benign	Het
E2f3	A	T	13: 30,095,301 (GRCm39)	I329N	probably damaging	Het
Eml2	G	A	7: 18,927,988 (GRCm39)	V266M	probably benign	Het
Entpd2	A	G	2: 25,289,725 (GRCm39)	T376A	probably benign	Het
Flnb	A	G	14: 7,908,671 (GRCm38)	T1350A	probably benign	Het
Fmnl2	A	G	2: 53,016,077 (GRCm39)	E999G	unknown	Het
Hivep1	A	G	13: 42,312,407 (GRCm39)	Q1549R	possibly damaging	Het
Hps6	G	A	19: 45,992,446 (GRCm39)	V128M	possibly damaging	Het
Ifi27l2a	T	C	12: 103,402,899 (GRCm39)	S66P	possibly damaging	Het
Ikbip	T	C	10: 90,932,187 (GRCm39)	V277A	possibly damaging	Het
Ints8	T	C	4: 11,230,488 (GRCm39)	E451G	probably benign	Het
Itih2	A	T	2: 10,132,600 (GRCm39)	S64T	probably benign	Het
Krt23	T	C	11: 99,374,567 (GRCm39)		probably benign	Het
Lrpprc	C	A	17: 85,078,920 (GRCm39)	G265C	probably damaging	Het
Nav1	G	T	1: 135,512,943 (GRCm39)	A39E	probably benign	Het
Ogfod1	G	T	8: 94,773,906 (GRCm39)	D103Y	probably damaging	Het
Or7g20	T	G	9: 18,946,778 (GRCm39)	Y120D	probably damaging	Het
Or8b55	G	A	9: 38,727,285 (GRCm39)	C162Y	probably damaging	Het
Or8g37	A	G	9: 39,731,252 (GRCm39)	T106A	probably benign	Het
Ppp1r3a	A	T	6: 14,755,014 (GRCm39)	S78T	probably damaging	Het
Rnf148	A	T	6: 23,654,540 (GRCm39)	V152E	probably damaging	Het
Sdf2	A	T	11: 78,136,970 (GRCm39)	H50L	probably damaging	Het
Sec1	T	A	7: 45,328,700 (GRCm39)	M116L	probably benign	Het
Sema6d	T	C	2: 124,496,114 (GRCm39)	S53P	probably damaging	Het
Siae	A	G	9: 37,528,132 (GRCm39)	Y35C	probably damaging	Het
Slc18b1	A	T	10: 23,686,751 (GRCm39)	Y189F	probably damaging	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Spef2	T	C	15: 9,729,747 (GRCm39)	T124A	possibly damaging	Het
Strn4	G	A	7: 16,560,570 (GRCm39)	E241K	probably benign	Het
Svep1	A	G	4: 58,135,578 (GRCm39)	I510T	possibly damaging	Het
Svop	T	C	5: 114,170,854 (GRCm39)	D395G	probably damaging	Het
Tbc1d14	A	C	5: 36,728,888 (GRCm39)	S159R	probably damaging	Het
Tex50	T	A	1: 160,984,848 (GRCm39)	I131F	possibly damaging	Het
Tssk1	A	G	16: 17,712,884 (GRCm39)	K223R	probably benign	Het
Ttc3	A	G	16: 94,252,002 (GRCm39)	I1565V	probably benign	Het
Ttn	A	T	2: 76,541,938 (GRCm39)	F33683I	possibly damaging	Het
Ttn	T	C	2: 76,783,470 (GRCm39)	M887V	unknown	Het
Usp45	G	A	4: 21,815,399 (GRCm39)		probably null	Het
Wdr47	C	T	3: 108,498,841 (GRCm39)		probably benign	Het
Xirp1	A	G	9: 119,846,871 (GRCm39)	S671P	probably benign	Het
Zbtb18	A	G	1: 177,274,682 (GRCm39)	D5G	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp260	T	G	7: 29,804,914 (GRCm39)	Y271*	probably null	Het
Zfp369	T	A	13: 65,445,082 (GRCm39)	S742T	possibly damaging	Het
Zfp786	A	T	6: 47,802,015 (GRCm39)	D87E	probably damaging	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
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
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'- AGCAACAGGAACTCATTAGTGC -3'
(R):5'- TGAGGCCTTCAACATTGACC -3'

Sequencing Primer
(F):5'- ACAGGAACTCATTAGTGCTGGCC -3'
(R):5'- TTCATCGGGTAGGGAATATCACC -3'

Posted On

2021-07-15