Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02749:Kcnip4'

306225

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnip4

Ensembl Gene

ENSMUSG00000029088

Gene Name

Kv channel interacting protein 4

Synonyms

Calp250, KChIP4a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02749

Quality Score

Status

Chromosome

Chromosomal Location

48546844-49682249 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 48567127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087395] [ENSMUST00000166924] [ENSMUST00000175660] [ENSMUST00000176191] [ENSMUST00000176978]

AlphaFold

Q6PHZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000087395

SMART Domains

Protein: ENSMUSP00000084656
Gene: ENSMUSG00000029088

Domain	Start	End	E-Value	Type
EFh	124	152	6.16e-2	SMART
EFh	160	188	8.9e-8	SMART
EFh	208	236	6.14e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101214

SMART Domains

Protein: ENSMUSP00000098775
Gene: ENSMUSG00000029088

Domain	Start	End	E-Value	Type
EFh	94	122	6.16e-2	SMART
EFh	130	158	8.9e-8	SMART
Pfam:EF-hand_5	179	195	1.1e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101215

SMART Domains

Protein: ENSMUSP00000098776
Gene: ENSMUSG00000029088

Domain	Start	End	E-Value	Type
EFh	62	90	6.16e-2	SMART
EFh	98	126	8.9e-8	SMART
EFh	146	174	6.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166924

SMART Domains

Protein: ENSMUSP00000131276
Gene: ENSMUSG00000029088

Domain	Start	End	E-Value	Type
EFh	107	135	6.16e-2	SMART
EFh	143	171	8.9e-8	SMART
EFh	191	219	6.14e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172363

SMART Domains

Protein: ENSMUSP00000127538
Gene: ENSMUSG00000029088

Domain	Start	End	E-Value	Type
EFh	90	118	6.16e-2	SMART
EFh	126	154	8.9e-8	SMART
EFh	174	202	6.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175660

SMART Domains

Protein: ENSMUSP00000135799
Gene: ENSMUSG00000029088

Domain	Start	End	E-Value	Type
EFh	99	127	6.16e-2	SMART
EFh	135	163	8.9e-8	SMART
EFh	183	211	6.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176191

SMART Domains

Protein: ENSMUSP00000135071
Gene: ENSMUSG00000029088

Domain	Start	End	E-Value	Type
EFh	62	90	6.16e-2	SMART
EFh	98	126	8.9e-8	SMART
EFh	146	174	6.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176978

SMART Domains

Protein: ENSMUSP00000134758
Gene: ENSMUSG00000029088

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
EFh	103	131	6.16e-2	SMART
EFh	139	167	8.9e-8	SMART
EFh	187	215	6.14e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199818

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 voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104M06Rik	T	C	12: 112,963,795 (GRCm39)	D61G	probably benign	Het
Albfm1	T	C	5: 90,719,624 (GRCm39)	V240A	possibly damaging	Het
Ascc2	G	A	11: 4,590,481 (GRCm39)		probably null	Het
Atrn	C	T	2: 130,812,064 (GRCm39)	Q670*	probably null	Het
Atrn	G	T	2: 130,789,654 (GRCm39)		probably benign	Het
Calr	A	C	8: 85,571,117 (GRCm39)	W236G	probably damaging	Het
Camk2g	T	A	14: 20,816,084 (GRCm39)		probably null	Het
Cd101	G	T	3: 100,927,715 (GRCm39)	T122K	probably damaging	Het
Cert1	T	A	13: 96,765,643 (GRCm39)	N469K	possibly damaging	Het
Cryl1	T	C	14: 57,541,181 (GRCm39)	T168A	probably benign	Het
Diaph3	A	G	14: 87,156,261 (GRCm39)	I684T	probably damaging	Het
Ednrb	A	T	14: 104,060,495 (GRCm39)	M266K	possibly damaging	Het
Eif4h	T	C	5: 134,668,146 (GRCm39)	D3G	probably damaging	Het
Eny2	C	T	15: 44,293,031 (GRCm39)	R28C	possibly damaging	Het
Epsti1	A	G	14: 78,177,363 (GRCm39)	E181G	probably damaging	Het
Ezh2	A	G	6: 47,510,698 (GRCm39)	F598S	probably damaging	Het
Fat3	G	T	9: 15,918,007 (GRCm39)	T1472K	possibly damaging	Het
Gabra4	T	A	5: 71,795,490 (GRCm39)	I262F	probably benign	Het
Gpat4	A	T	8: 23,670,886 (GRCm39)	Y109N	probably damaging	Het
Gpsm1	C	T	2: 26,229,687 (GRCm39)	T36I	probably damaging	Het
Hikeshi	C	T	7: 89,585,097 (GRCm39)	V36I	possibly damaging	Het
Hip1	T	C	5: 135,473,605 (GRCm39)	M238V	probably benign	Het
Hnrnpll	A	T	17: 80,369,420 (GRCm39)	M1K	probably null	Het
Irx2	G	A	13: 72,779,429 (GRCm39)	D238N	probably damaging	Het
Lair1	G	A	7: 4,031,900 (GRCm39)	T69I	possibly damaging	Het
Lamc1	A	G	1: 153,125,599 (GRCm39)	I558T	possibly damaging	Het
Map4k5	C	T	12: 69,862,580 (GRCm39)	E639K	probably benign	Het
Mc4r	A	G	18: 66,992,733 (GRCm39)	S127P	probably damaging	Het
Mmp23	A	G	4: 155,735,989 (GRCm39)	M221T	possibly damaging	Het
Mre11a	T	C	9: 14,737,887 (GRCm39)	S587P	possibly damaging	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Nek9	C	A	12: 85,352,281 (GRCm39)	A861S	probably benign	Het
Nup155	T	A	15: 8,163,560 (GRCm39)	Y576N	probably damaging	Het
Or5w10	C	T	2: 87,375,001 (GRCm39)	V296M	probably damaging	Het
Pcca	A	T	14: 122,771,800 (GRCm39)	T8S	probably benign	Het
Pcdh15	A	G	10: 74,466,900 (GRCm39)	D1573G	probably benign	Het
Pdpr	T	A	8: 111,844,722 (GRCm39)	V373E	probably benign	Het
Pdzph1	A	T	17: 59,239,478 (GRCm39)	L950Q	possibly damaging	Het
Pira13	A	G	7: 3,825,624 (GRCm39)	I415T	probably damaging	Het
Prss35	A	C	9: 86,638,297 (GRCm39)	K356Q	probably damaging	Het
Psg22	A	T	7: 18,456,944 (GRCm39)	T237S	possibly damaging	Het
Rdh13	A	G	7: 4,430,703 (GRCm39)	Y252H	probably damaging	Het
Sema3d	T	C	5: 12,613,112 (GRCm39)		probably benign	Het
Slc35b2	G	A	17: 45,877,493 (GRCm39)	V207I	probably benign	Het
Sparcl1	T	G	5: 104,240,746 (GRCm39)	E226A	possibly damaging	Het
Srms	C	A	2: 180,851,302 (GRCm39)	A155S	possibly damaging	Het
Tas2r107	A	T	6: 131,636,917 (GRCm39)	I44N	probably damaging	Het
Tmem236	C	T	2: 14,224,132 (GRCm39)	T307M	probably damaging	Het
Ush2a	C	T	1: 188,679,155 (GRCm39)	P4788S	probably damaging	Het
Vmn1r170	A	T	7: 23,305,716 (GRCm39)	L39F	probably benign	Het
Vmn2r90	T	A	17: 17,947,122 (GRCm39)	*121R	probably null	Het

Other mutations in Kcnip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03386:Kcnip4	APN	5	48,639,889 (GRCm39)	missense	probably damaging	1.00
R0453:Kcnip4	UTSW	5	48,667,054 (GRCm39)	missense	probably damaging	0.96
R0811:Kcnip4	UTSW	5	48,567,202 (GRCm39)	missense	probably benign	0.00
R0812:Kcnip4	UTSW	5	48,567,202 (GRCm39)	missense	probably benign	0.00
R0856:Kcnip4	UTSW	5	48,576,552 (GRCm39)	critical splice donor site	probably null
R4879:Kcnip4	UTSW	5	48,567,207 (GRCm39)	missense	possibly damaging	0.95
R6034:Kcnip4	UTSW	5	48,548,283 (GRCm39)	missense	possibly damaging	0.89
R6034:Kcnip4	UTSW	5	48,548,283 (GRCm39)	missense	possibly damaging	0.89
R8507:Kcnip4	UTSW	5	48,639,997 (GRCm39)	missense	possibly damaging	0.55
R9690:Kcnip4	UTSW	5	48,555,846 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16