Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4151001:Kcnc4'

557009

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

Accession Numbers

Essential gene?

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

Stock #

PIT4151001 (G1)

Quality Score

94.0077

Status

Not validated

Chromosome

Chromosomal Location

107345619-107366868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107366019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 63 (A63V)

Ref Sequence

ENSEMBL: ENSMUSP00000009617 (fasta)

Gene Model

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

AlphaFold

Q8R1C0

Predicted Effect

probably damaging
Transcript: ENSMUST00000009617
AA Change: A63V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: A63V

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: 92.7%
3x: 90.4%
10x: 84.6%
20x: 72.1%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,930,670 (GRCm39)	L1389P	probably damaging	Het
Acot10	C	T	15: 20,666,684 (GRCm39)	G19D	probably damaging	Het
Adam20	G	A	8: 41,248,081 (GRCm39)	V64I	possibly damaging	Het
Ak6	T	A	13: 100,791,603 (GRCm39)	D15E	probably damaging	Het
Atp1a2	A	G	1: 172,118,288 (GRCm39)	Y129H	probably damaging	Het
Caskin1	C	T	17: 24,721,193 (GRCm39)	T511I	probably damaging	Het
Casp9	C	T	4: 141,521,259 (GRCm39)	R32*	probably null	Het
Ccdc40	A	G	11: 119,133,277 (GRCm39)	E445G	probably damaging	Het
Cct8	T	C	16: 87,284,545 (GRCm39)	E273G	probably damaging	Het
Chd5	G	A	4: 152,462,986 (GRCm39)	V1380I	probably damaging	Het
Coro2b	C	T	9: 62,336,286 (GRCm39)	G272D	probably damaging	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dgki	A	T	6: 37,040,916 (GRCm39)	H298Q	probably benign	Het
Dnmt3b	T	G	2: 153,526,399 (GRCm39)		probably null	Het
Dzip1	A	G	14: 119,160,200 (GRCm39)	F3L	probably damaging	Het
Egf	A	G	3: 129,496,198 (GRCm39)	S807P	probably benign	Het
Emc10	C	T	7: 44,142,627 (GRCm39)	R105H		Het
Enthd1	T	C	15: 80,336,937 (GRCm39)	E499G	probably damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Fer1l5	T	A	1: 36,450,728 (GRCm39)	M1242K	probably benign	Het
Gm3415	A	G	5: 146,493,079 (GRCm39)	R36G	probably benign	Het
Gm5797	C	A	14: 7,330,318 (GRCm38)	M114I	possibly damaging	Het
Gmppa	A	T	1: 75,418,468 (GRCm39)	R284*	probably null	Het
Homer1	G	C	13: 93,485,724 (GRCm39)	K118N	probably damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,608 (GRCm39)		probably benign	Het
Kif11	T	A	19: 37,373,045 (GRCm39)	I88N	probably damaging	Het
Krba1	T	C	6: 48,379,831 (GRCm39)	F9S	probably damaging	Het
Nckap1	A	G	2: 80,350,714 (GRCm39)		probably null	Het
Nox4	A	T	7: 86,954,097 (GRCm39)	Y134F	probably benign	Het
Or4a79	T	A	2: 89,552,237 (GRCm39)	T73S	probably benign	Het
Or51f23c-ps1	T	C	7: 102,431,465 (GRCm39)	S261P	probably benign	Het
Or52e15	A	G	7: 104,645,424 (GRCm39)	L229P	probably damaging	Het
Or5m13b	T	A	2: 85,754,386 (GRCm39)	M258K	probably damaging	Het
Or5m8	T	C	2: 85,822,538 (GRCm39)	C126R	probably damaging	Het
Or8k22	G	T	2: 86,163,173 (GRCm39)	H176N	possibly damaging	Het
Pcdh17	G	T	14: 84,684,798 (GRCm39)	V422L	probably benign	Het
Pcx	T	A	19: 4,653,157 (GRCm39)	V275E	probably damaging	Het
Pde6h	A	T	6: 136,938,185 (GRCm39)	M53L	possibly damaging	Het
Phactr3	A	T	2: 177,975,861 (GRCm39)	E535D	probably damaging	Het
Pkn3	C	A	2: 29,980,539 (GRCm39)	T810N	probably damaging	Het
Pnpla5	T	C	15: 84,002,827 (GRCm39)	E252G	probably damaging	Het
Pramel21	T	A	4: 143,342,722 (GRCm39)	C276*	probably null	Het
Psg17	A	G	7: 18,548,530 (GRCm39)	S414P	probably benign	Het
Pzp	T	A	6: 128,502,259 (GRCm39)	Q30L	probably benign	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Ret	T	C	6: 118,141,702 (GRCm39)	D975G	probably benign	Het
Sarnp	A	G	10: 128,713,235 (GRCm39)	I209V	probably benign	Het
Sorl1	A	T	9: 41,879,918 (GRCm39)	V2210D	probably damaging	Het
Stard9	C	T	2: 120,533,237 (GRCm39)	Q3165*	probably null	Het
Tmem64	A	T	4: 15,283,159 (GRCm39)	I319F	probably damaging	Het
Vmn1r176	A	T	7: 23,534,808 (GRCm39)	V115D	probably damaging	Het
Vmn1r2	A	G	4: 3,172,623 (GRCm39)	T181A	probably benign	Het
Vmn2r2	T	C	3: 64,024,334 (GRCm39)	E749G	possibly damaging	Het
Vps35	G	A	8: 86,010,677 (GRCm39)	T222I	possibly damaging	Het
Zfp532	A	G	18: 65,757,485 (GRCm39)	T473A	probably damaging	Het
Zfyve16	A	G	13: 92,657,712 (GRCm39)	V733A	probably damaging	Het
Zranb1	T	A	7: 132,551,723 (GRCm39)	S125T	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
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
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'- GAAGGTGAGCTCTTCCTCAAAG -3'
(R):5'- GCTTCTTATGATCAGCTCGGTG -3'

Sequencing Primer
(F):5'- AGAGAGGCCCACAGACGTC -3'
(R):5'- ATCAGCTCGGTGTGTGTCTCC -3'

Posted On

2019-06-07