Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Kcnc4'

249357

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

040384-MU

Accession Numbers

Essential gene?

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

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107345619-107366868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107352863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 572 (P572T)

Ref Sequence

ENSEMBL: ENSMUSP00000009617 (fasta)

Gene Model

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

AlphaFold

Q8R1C0

Predicted Effect

probably benign
Transcript: ENSMUST00000009617
AA Change: P572T

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: P572T

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

0.4481

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,421,864 (GRCm39)	N47I	probably benign	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adck2	C	T	6: 39,560,932 (GRCm39)	A440V	possibly damaging	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc121rt3	A	T	5: 112,502,984 (GRCm39)	V240D	probably damaging	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,316,120 (GRCm39)	C186R	probably benign	Het
Cdk12	T	G	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Cdv3	T	C	9: 103,242,317 (GRCm39)		probably benign	Het
Celf2	G	A	2: 6,558,700 (GRCm39)	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,949,413 (GRCm39)	S574R	probably benign	Het
Col14a1	T	C	15: 55,313,318 (GRCm39)	L56P	unknown	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Dctn1	C	T	6: 83,176,782 (GRCm39)	L1241F	possibly damaging	Het
Depdc5	T	C	5: 33,148,379 (GRCm39)	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Entpd7	A	T	19: 43,716,527 (GRCm39)	Y507F	possibly damaging	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Galr1	A	T	18: 82,424,048 (GRCm39)	N76K	probably damaging	Het
Glrb	A	G	3: 80,767,542 (GRCm39)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm4950	T	A	18: 51,998,856 (GRCm39)	Q33L	probably benign	Het
Gnat2	A	T	3: 108,002,855 (GRCm39)	M88L	probably damaging	Het
Gpr183	A	G	14: 122,191,589 (GRCm39)	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hipk3	C	T	2: 104,301,830 (GRCm39)	G121R	probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Homez	C	A	14: 55,095,031 (GRCm39)	V226F	probably benign	Het
Inf2	C	A	12: 112,577,258 (GRCm39)	A1034D	unknown	Het
Kmt2d	T	C	15: 98,760,147 (GRCm39)	E1037G	unknown	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,852 (GRCm39)	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906 (GRCm39)	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Nek1	T	C	8: 61,472,935 (GRCm39)	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,096,872 (GRCm39)	D876V	probably benign	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or11g7	T	C	14: 50,690,893 (GRCm39)	L128P	probably damaging	Het
Or5an11	A	T	19: 12,246,283 (GRCm39)	T230S	probably damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Pcdha11	G	T	18: 37,140,325 (GRCm39)	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Plxnb1	G	A	9: 108,937,506 (GRCm39)	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Pum2	A	T	12: 8,798,931 (GRCm39)	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,112,792 (GRCm39)	E67G	probably damaging	Het
Rgs9	C	A	11: 109,116,603 (GRCm39)		probably null	Het
Semp2l1	C	T	1: 32,584,942 (GRCm39)	A323T	possibly damaging	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Snx33	C	A	9: 56,825,822 (GRCm39)	M546I	probably benign	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Spata2	C	T	2: 167,326,126 (GRCm39)	R231Q	probably damaging	Het
Stard9	C	T	2: 120,530,765 (GRCm39)	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,832,557 (GRCm39)	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,600,349 (GRCm39)	E110G	probably damaging	Het
Tmem102	T	A	11: 69,695,363 (GRCm39)	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wdr77	A	T	3: 105,867,337 (GRCm39)	K62*	probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp266	C	A	9: 20,410,558 (GRCm39)	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,943,421 (GRCm39)		probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,963,143 (GRCm39)	T141I	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
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
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'- TCCATTCTAAAAGCGAGGGC -3'
(R):5'- GATCCTTCAGACCAAGCACAGG -3'

Sequencing Primer
(F):5'- CTCAAGCTCTGAGGGGAGG -3'
(R):5'- GCCTTTGCTTCCAGGACCTG -3'

Posted On

2014-11-12