Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02622:Kcnip1'

300928

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnip1

Ensembl Gene

ENSMUSG00000053519

Gene Name

Kv channel-interacting protein 1

Synonyms

KCHIP1, 3202002F18Rik, 2900046L02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

33579339-33943152 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 33593290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065970] [ENSMUST00000101368] [ENSMUST00000109340]

AlphaFold

Q9JJ57

Predicted Effect

probably benign
Transcript: ENSMUST00000065970

SMART Domains

Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519

Domain	Start	End	E-Value	Type
EFh	90	118	2.24e1	SMART
EFh	126	154	8.77e-7	SMART
EFh	174	202	2.83e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101368

SMART Domains

Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519

Domain	Start	End	E-Value	Type
EFh	62	90	2.24e1	SMART
EFh	98	126	8.77e-7	SMART
EFh	146	174	2.83e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109340

SMART Domains

Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519

Domain	Start	End	E-Value	Type
EFh	101	129	2.24e1	SMART
EFh	137	165	8.77e-7	SMART
EFh	185	213	2.83e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154760

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increase susceptibility to pentylenetetrazole-induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,101 (GRCm39)	V32M	possibly damaging	Het
Abca1	T	C	4: 53,034,046 (GRCm39)	D2228G	probably damaging	Het
Actr5	A	G	2: 158,480,728 (GRCm39)	K582R	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,518,454 (GRCm39)	D128G	possibly damaging	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Cep112	A	G	11: 108,409,509 (GRCm39)	H133R	probably benign	Het
Cops3	C	T	11: 59,723,864 (GRCm39)	D98N	probably benign	Het
Crlf3	T	C	11: 79,950,150 (GRCm39)	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,825,501 (GRCm39)		probably null	Het
Ddx60	C	A	8: 62,395,470 (GRCm39)		probably null	Het
Depdc1a	T	A	3: 159,221,147 (GRCm39)	N159K	probably benign	Het
Dsg3	A	T	18: 20,662,004 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,824,677 (GRCm39)		probably benign	Het
Ercc6l2	T	A	13: 64,001,437 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,322,602 (GRCm39)	M123L	probably benign	Het
Fus	T	A	7: 127,584,794 (GRCm39)	L100H	probably damaging	Het
Gm29247	A	G	1: 44,146,269 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,115,857 (GRCm39)	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,418,115 (GRCm39)	Q519L	probably benign	Het
Lyst	T	A	13: 13,855,975 (GRCm39)	L2432H	probably damaging	Het
Mastl	A	G	2: 23,022,857 (GRCm39)	V622A	probably benign	Het
Myh15	A	G	16: 48,997,317 (GRCm39)	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,013,826 (GRCm39)	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649 (GRCm39)	M134I	probably benign	Het
Or2a56	T	G	6: 42,932,663 (GRCm39)	V77G	probably damaging	Het
Or52m1	T	A	7: 102,290,290 (GRCm39)	L279Q	probably damaging	Het
Or5p60	T	A	7: 107,723,595 (GRCm39)	I292F	probably damaging	Het
Paqr6	T	G	3: 88,273,085 (GRCm39)	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,721 (GRCm39)	L677Q	probably benign	Het
Phax	C	T	18: 56,717,372 (GRCm39)	R250*	probably null	Het
Pkn3	A	G	2: 29,973,158 (GRCm39)	D356G	probably benign	Het
Pnpla2	T	C	7: 141,035,285 (GRCm39)	L29P	probably damaging	Het
Rad18	G	A	6: 112,664,948 (GRCm39)	T62I	probably damaging	Het
Riok3	C	T	18: 12,276,017 (GRCm39)	R238C	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,504,025 (GRCm39)	G125W	probably damaging	Het
Skint11	T	A	4: 114,051,925 (GRCm39)	L91H	probably damaging	Het
Slc25a45	A	G	19: 5,928,725 (GRCm39)		probably benign	Het
Slco2a1	C	T	9: 102,954,128 (GRCm39)	Q370*	probably null	Het
Szt2	A	G	4: 118,250,087 (GRCm39)	S474P	probably damaging	Het
Tchh	C	A	3: 93,350,719 (GRCm39)	T53K	probably damaging	Het
Tiam1	T	C	16: 89,595,588 (GRCm39)	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,633,887 (GRCm39)	Q183*	probably null	Het
Trim26	C	A	17: 37,161,797 (GRCm39)	A72E	probably damaging	Het
Trmt11	A	T	10: 30,435,169 (GRCm39)	I330K	probably benign	Het
Tspan1	A	G	4: 116,021,052 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,194,561 (GRCm39)	C4286*	probably null	Het
Unc13a	T	C	8: 72,105,158 (GRCm39)		probably null	Het
Vmn1r20	T	A	6: 57,409,583 (GRCm39)	F303Y	probably damaging	Het
Washc2	T	C	6: 116,190,979 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,661,699 (GRCm39)	D585N	probably benign	Het
Ythdc2	C	T	18: 44,993,001 (GRCm39)	L791F	probably damaging	Het
Zfp319	C	A	8: 96,055,589 (GRCm39)	V205F	probably damaging	Het
Zscan25	A	T	5: 145,227,512 (GRCm39)	H392L	probably damaging	Het
Zswim6	A	T	13: 107,884,786 (GRCm39)		noncoding transcript	Het

Other mutations in Kcnip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Kcnip1	APN	11	33,593,294 (GRCm39)	critical splice donor site	probably null
IGL00597:Kcnip1	APN	11	33,593,289 (GRCm39)	splice site	probably benign
IGL01064:Kcnip1	APN	11	33,583,192 (GRCm39)	missense	probably damaging	1.00
IGL01125:Kcnip1	APN	11	33,583,202 (GRCm39)	missense	probably damaging	1.00
IGL01324:Kcnip1	APN	11	33,595,603 (GRCm39)	start codon destroyed	probably null	0.01
IGL01409:Kcnip1	APN	11	33,580,593 (GRCm39)	missense	probably benign	0.00
R0149:Kcnip1	UTSW	11	33,793,177 (GRCm39)	missense	probably benign
R0319:Kcnip1	UTSW	11	33,601,529 (GRCm39)	splice site	probably benign
R0361:Kcnip1	UTSW	11	33,793,177 (GRCm39)	missense	probably benign
R1314:Kcnip1	UTSW	11	33,592,481 (GRCm39)	missense	probably damaging	1.00
R3420:Kcnip1	UTSW	11	33,595,594 (GRCm39)	missense	probably damaging	1.00
R3421:Kcnip1	UTSW	11	33,595,594 (GRCm39)	missense	probably damaging	1.00
R3422:Kcnip1	UTSW	11	33,595,594 (GRCm39)	missense	probably damaging	1.00
R4631:Kcnip1	UTSW	11	33,942,821 (GRCm39)	exon	noncoding transcript
R4843:Kcnip1	UTSW	11	33,594,504 (GRCm39)	missense	probably benign	0.00
R5007:Kcnip1	UTSW	11	33,592,495 (GRCm39)	missense	probably benign	0.05
R5337:Kcnip1	UTSW	11	33,592,389 (GRCm39)	intron	probably benign
R5596:Kcnip1	UTSW	11	33,580,597 (GRCm39)	missense	probably damaging	1.00
R6058:Kcnip1	UTSW	11	33,592,478 (GRCm39)	missense	probably damaging	1.00
R6210:Kcnip1	UTSW	11	33,595,600 (GRCm39)	missense	possibly damaging	0.93
R7086:Kcnip1	UTSW	11	33,584,629 (GRCm39)	missense	probably damaging	1.00
R7363:Kcnip1	UTSW	11	33,584,589 (GRCm39)	missense	probably benign	0.00
R7881:Kcnip1	UTSW	11	33,583,206 (GRCm39)	missense	probably damaging	1.00
R9349:Kcnip1	UTSW	11	33,601,548 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16