Mutagenetix > Incidental Mutation

Incidental Mutation 'R6034:Kcnip4'

480553

Institutional Source

Beutler Lab

Gene Symbol

Kcnip4

Ensembl Gene

ENSMUSG00000029088

Gene Name

Kv channel interacting protein 4

Synonyms

Calp250, KChIP4a

MMRRC Submission

044206-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48546844-49682249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 48548283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 241 (R241S)

Ref Sequence

ENSEMBL: ENSMUSP00000084656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030968] [ENSMUST00000087395] [ENSMUST00000166924] [ENSMUST00000175660] [ENSMUST00000176191] [ENSMUST00000176978] [ENSMUST00000200566] [ENSMUST00000196950]

AlphaFold

Q6PHZ8

PDB Structure

Structural Basis of KChIP4a Modulation of Kv4.3 Slow Inactivation [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000030968

SMART Domains

Protein: ENSMUSP00000030968
Gene: ENSMUSG00000029089

Domain	Start	End	E-Value	Type
low complexity region	46	59	N/A	INTRINSIC
Pfam:ParcG	78	245	1e-53	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087395
AA Change: R241S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084656
Gene: ENSMUSG00000029088
AA Change: R241S

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: 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
AA Change: R224S

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131276
Gene: ENSMUSG00000029088
AA Change: R224S

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

possibly damaging
Transcript: ENSMUST00000175660
AA Change: R216S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135799
Gene: ENSMUSG00000029088
AA Change: R216S

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

possibly damaging
Transcript: ENSMUST00000176191
AA Change: R207S

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135071
Gene: ENSMUSG00000029088
AA Change: R207S

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
AA Change: R220S

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134758
Gene: ENSMUSG00000029088
AA Change: R220S

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: ENSMUST00000197072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176521

Predicted Effect

probably benign
Transcript: ENSMUST00000200566

SMART Domains

Protein: ENSMUSP00000142613
Gene: ENSMUSG00000029089

Domain	Start	End	E-Value	Type
low complexity region	46	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196950

SMART Domains

Protein: ENSMUSP00000143072
Gene: ENSMUSG00000029089

Domain	Start	End	E-Value	Type
low complexity region	46	59	N/A	INTRINSIC
Pfam:ParcG	78	245	1e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195960

Meta Mutation Damage Score

0.0850

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.4%
20x: 87.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,760,984 (GRCm39)	G80V	unknown	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Atad2	A	T	15: 57,971,959 (GRCm39)	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,659,645 (GRCm39)		probably null	Het
Atp6v1c2	C	A	12: 17,357,501 (GRCm39)	G95V	possibly damaging	Het
Birc6	T	A	17: 74,922,278 (GRCm39)	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,542,091 (GRCm39)	E597G	probably benign	Het
Ccdc40	A	G	11: 119,133,898 (GRCm39)	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354 (GRCm39)	R587K	probably benign	Het
Cdipt	T	G	7: 126,577,497 (GRCm39)	V81G	probably damaging	Het
Cert1	A	C	13: 96,746,308 (GRCm39)	I236L	probably benign	Het
Cfh	T	C	1: 140,090,869 (GRCm39)	K40E	probably damaging	Het
Cps1	T	A	1: 67,196,872 (GRCm39)		probably null	Het
Dnah7c	A	T	1: 46,496,418 (GRCm39)	D101V	probably benign	Het
Fastkd3	T	A	13: 68,731,729 (GRCm39)	W17R	probably damaging	Het
H1f4	A	G	13: 23,806,296 (GRCm39)	L62P	probably damaging	Het
H2-Ob	T	C	17: 34,460,192 (GRCm39)	V30A	probably damaging	Het
Hmgxb3	T	A	18: 61,265,594 (GRCm39)	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,680,711 (GRCm39)	I255N	probably damaging	Het
Imp4	A	G	1: 34,482,537 (GRCm39)	D91G	probably damaging	Het
Itprid1	T	A	6: 55,944,666 (GRCm39)	D462E	possibly damaging	Het
Lilra5	T	C	7: 4,245,133 (GRCm39)	L259P	probably benign	Het
Lipf	T	C	19: 33,942,289 (GRCm39)	I73T	probably benign	Het
Lsm7	T	C	10: 80,688,742 (GRCm39)		probably null	Het
Luzp2	T	A	7: 54,816,972 (GRCm39)	L141M	probably damaging	Het
Malrd1	T	A	2: 15,850,137 (GRCm39)	V1252E	possibly damaging	Het
Map10	T	C	8: 126,399,205 (GRCm39)	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,497,866 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,460 (GRCm39)	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,773,834 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,163,187 (GRCm39)	T339S	probably benign	Het
Naa15	A	G	3: 51,350,242 (GRCm39)	D163G	probably damaging	Het
Oosp2	A	G	19: 11,628,879 (GRCm39)	F74S	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,702 (GRCm39)	Y123F	probably damaging	Het
Pard3	C	G	8: 127,791,077 (GRCm39)		probably benign	Het
Pcdha1	T	A	18: 37,063,651 (GRCm39)	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,601 (GRCm39)	T224A	possibly damaging	Het
Phf12	A	G	11: 77,908,895 (GRCm39)	N325S	probably benign	Het
Prom1	T	A	5: 44,201,750 (GRCm39)		probably null	Het
Raet1e	A	G	10: 22,057,990 (GRCm39)	*252W	probably null	Het
Sap130	T	C	18: 31,822,459 (GRCm39)	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,380,509 (GRCm39)	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,351,927 (GRCm39)	T101I	possibly damaging	Het
Selenoo	A	G	15: 88,983,546 (GRCm39)	K529R	probably benign	Het
Slc22a15	A	G	3: 101,770,235 (GRCm39)	F451L	possibly damaging	Het
St6gal2	T	A	17: 55,789,982 (GRCm39)	S339T	probably benign	Het
Stard13	A	T	5: 151,018,965 (GRCm39)		probably null	Het
Synm	A	G	7: 67,384,653 (GRCm39)	V561A	probably damaging	Het
Tc2n	A	T	12: 101,617,460 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,229,377 (GRCm39)	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,011,868 (GRCm39)	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,737,632 (GRCm39)	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,272,215 (GRCm39)	G185C	probably damaging	Het
Zfp563	G	A	17: 33,323,935 (GRCm39)	A177T	probably 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
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
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

Posted On

2017-06-26