Mutagenetix > Incidental Mutation

Incidental Mutation 'R0856:Kcnip4'

82714

Institutional Source

Beutler Lab

Gene Symbol

Kcnip4

Ensembl Gene

ENSMUSG00000029088

Gene Name

Kv channel interacting protein 4

Synonyms

Calp250, KChIP4a

MMRRC Submission

039035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48546844-49682249 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 48576552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134758 (fasta)

Gene Model

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

AlphaFold

Q6PHZ8

Predicted Effect

probably null
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

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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

probably null
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: ENSMUST00000199818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176521

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.6%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,154,262 (GRCm39)	S101R	probably benign	Het
Arhgap32	C	A	9: 32,171,516 (GRCm39)	P1432Q	probably damaging	Het
Atp7b	A	G	8: 22,487,647 (GRCm39)	V1134A	probably damaging	Het
Crtc3	A	T	7: 80,245,372 (GRCm39)	Y418N	probably damaging	Het
Cts8	A	T	13: 61,398,730 (GRCm39)	Y259N	probably damaging	Het
Defb39	T	A	8: 19,102,982 (GRCm39)	T38S	possibly damaging	Het
Depdc7	A	G	2: 104,558,437 (GRCm39)	S195P	probably benign	Het
Gykl1	T	A	18: 52,828,441 (GRCm39)	*550K	probably null	Het
Kif20a	T	C	18: 34,764,271 (GRCm39)	S666P	probably benign	Het
Klhl32	T	C	4: 24,682,092 (GRCm39)	D197G	probably damaging	Het
Men1	A	G	19: 6,385,888 (GRCm39)	Y133C	probably damaging	Het
Mtnr1a	A	G	8: 45,540,870 (GRCm39)	E277G	possibly damaging	Het
Numa1	C	A	7: 101,648,155 (GRCm39)	Q629K	probably damaging	Het
Or2a52	T	C	6: 43,144,345 (GRCm39)	S118P	probably damaging	Het
P3h3	G	T	6: 124,831,896 (GRCm39)	D296E	probably benign	Het
Prl7c1	A	G	13: 27,957,717 (GRCm39)	I241T	possibly damaging	Het
Prr35	T	C	17: 26,167,001 (GRCm39)	S179G	probably benign	Het
Rp1	T	C	1: 4,414,878 (GRCm39)	E2078G	probably benign	Het
Septin8	A	G	11: 53,428,697 (GRCm39)	H414R	probably benign	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Upf2	A	G	2: 5,962,463 (GRCm39)	D55G	unknown	Het
Vit	G	T	17: 78,927,086 (GRCm39)	V344L	possibly damaging	Het
Vps26a	A	C	10: 62,304,189 (GRCm39)	V176G	possibly damaging	Het

Other mutations in Kcnip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02749:Kcnip4	APN	5	48,567,127 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCACACGGGATTACTCACATGAAACT -3'
(R):5'- AGAGAACTTTCTCCTTTCTCCAGACCA -3'

Sequencing Primer
(F):5'- TACTCACATGAAACTGAGAAATAGGC -3'
(R):5'- CTTTCTCCAGACCACACCC -3'

Posted On

2013-11-08