Mutagenetix > Incidental Mutation

Incidental Mutation 'R0811:Kcnip4'

262336

Institutional Source

Beutler Lab

Gene Symbol

Kcnip4

Ensembl Gene

ENSMUSG00000029088

Gene Name

Kv channel interacting protein 4

Synonyms

Calp250, KChIP4a

MMRRC Submission

038991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48546844-49682249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48567202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 122 (T122S)

Ref Sequence

ENSEMBL: ENSMUSP00000084656 (fasta)

Gene Model

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

AlphaFold

Q6PHZ8

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087395
AA Change: T122S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000084656
Gene: ENSMUSG00000029088
AA Change: T122S

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
AA Change: T105S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131276
Gene: ENSMUSG00000029088
AA Change: T105S

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
AA Change: T97S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135799
Gene: ENSMUSG00000029088
AA Change: T97S

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
AA Change: T88S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135071
Gene: ENSMUSG00000029088
AA Change: T88S

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: T101S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134758
Gene: ENSMUSG00000029088
AA Change: T101S

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

Meta Mutation Damage Score

0.0718

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (44/44)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,763,229 (GRCm39)	S586P	probably damaging	Het
Ap5z1	G	A	5: 142,461,546 (GRCm39)	R583H	probably benign	Het
Arhgap28	TCAGCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAGCAG	17: 68,208,294 (GRCm39)		probably benign	Het
Arrb1	G	T	7: 99,247,708 (GRCm39)	V346L	probably benign	Het
Atrnl1	T	A	19: 57,661,573 (GRCm39)	F518I	probably benign	Het
Bank1	T	A	3: 135,799,127 (GRCm39)	I405F	probably damaging	Het
Cacna1h	A	G	17: 25,607,602 (GRCm39)	L905P	probably damaging	Het
Cc2d1a	A	G	8: 84,860,465 (GRCm39)	Y826H	probably benign	Het
Cenpo	A	G	12: 4,266,643 (GRCm39)	V155A	probably benign	Het
Cnmd	A	G	14: 79,898,863 (GRCm39)	F63S	probably damaging	Het
Cnn3	G	A	3: 121,248,600 (GRCm39)	G72D	probably damaging	Het
Cox10	A	G	11: 63,962,539 (GRCm39)	S101P	probably benign	Het
Ctdsp1	T	C	1: 74,433,806 (GRCm39)	V129A	probably damaging	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Dennd5a	G	A	7: 109,532,820 (GRCm39)	H317Y	possibly damaging	Het
Dnaaf9	A	G	2: 130,555,334 (GRCm39)	F858S	probably damaging	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Enox1	T	A	14: 77,819,876 (GRCm39)	D210E	probably damaging	Het
Fam171a1	A	G	2: 3,198,464 (GRCm39)	N190S	probably damaging	Het
Fat2	T	A	11: 55,144,459 (GRCm39)	K4138N	possibly damaging	Het
Fat4	A	T	3: 39,011,623 (GRCm39)	D2241V	probably damaging	Het
Fbn1	C	T	2: 125,245,090 (GRCm39)	V266I	possibly damaging	Het
Fras1	T	A	5: 96,900,857 (GRCm39)	S3025R	probably benign	Het
Gba1	T	C	3: 89,111,307 (GRCm39)	I24T	probably benign	Het
Gdpd5	A	G	7: 99,087,540 (GRCm39)	D68G	probably damaging	Het
Grid1	G	A	14: 34,544,576 (GRCm39)	S49N	probably benign	Het
Grtp1	T	C	8: 13,229,639 (GRCm39)	T250A	possibly damaging	Het
Gucy1b1	T	C	3: 81,945,295 (GRCm39)	N448D	probably benign	Het
Hmcn2	G	A	2: 31,310,383 (GRCm39)	A3326T	probably damaging	Het
Ippk	C	A	13: 49,596,947 (GRCm39)	Q254K	probably damaging	Het
Itga2	A	T	13: 115,007,150 (GRCm39)	L393I	possibly damaging	Het
Kcna10	A	T	3: 107,102,575 (GRCm39)	E402V	possibly damaging	Het
Kcnab1	G	A	3: 65,205,141 (GRCm39)	D119N	probably damaging	Het
Kcnma1	G	A	14: 23,350,086 (GRCm39)	P1151L	probably damaging	Het
Klhl22	T	A	16: 17,610,453 (GRCm39)	M568K	probably benign	Het
Krt6a	C	T	15: 101,601,183 (GRCm39)	V257M	probably damaging	Het
Ksr2	A	C	5: 117,693,290 (GRCm39)	H246P	probably damaging	Het
Lca5	T	C	9: 83,281,806 (GRCm39)	D326G	possibly damaging	Het
Lcp1	A	G	14: 75,451,928 (GRCm39)	E393G	probably benign	Het
Leo1	G	A	9: 75,352,831 (GRCm39)	E125K	probably benign	Het
Lipt1	T	A	1: 37,914,382 (GRCm39)	V146E	probably damaging	Het
Mael	A	T	1: 166,062,968 (GRCm39)		probably null	Het
Mga	C	T	2: 119,778,442 (GRCm39)	L1996F	probably damaging	Het
Mllt6	A	G	11: 97,569,387 (GRCm39)	N913S	probably damaging	Het
Mphosph9	A	C	5: 124,436,822 (GRCm39)	D507E	probably damaging	Het
Mvp	G	A	7: 126,586,728 (GRCm39)	A801V	probably benign	Het
Neb	T	C	2: 52,182,707 (GRCm39)	D1053G	possibly damaging	Het
Nubp1	C	A	16: 10,231,585 (GRCm39)	L79I	probably benign	Het
Or1e1f	G	A	11: 73,856,246 (GRCm39)	E271K	probably benign	Het
Or1o2	A	C	17: 37,543,223 (GRCm39)	L13V	probably benign	Het
Or8d2	G	A	9: 38,759,805 (GRCm39)	V132I	probably benign	Het
Pithd1	A	G	4: 135,704,445 (GRCm39)		probably benign	Het
Pnpla8	G	A	12: 44,330,188 (GRCm39)	V29M	probably benign	Het
Psmb2	T	A	4: 126,601,350 (GRCm39)	I151N	possibly damaging	Het
Ptgs2	C	T	1: 149,977,105 (GRCm39)	T104I	probably benign	Het
Ptpro	A	G	6: 137,345,077 (GRCm39)	T28A	probably benign	Het
Raf1	A	G	6: 115,603,671 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,301,351 (GRCm39)	M668T	probably benign	Het
Rbm48	A	T	5: 3,641,760 (GRCm39)		probably null	Het
Rhag	A	T	17: 41,142,469 (GRCm39)	T225S	possibly damaging	Het
Rhof	A	C	5: 123,269,950 (GRCm39)	L69R	probably damaging	Het
Slc22a1	T	C	17: 12,885,505 (GRCm39)		probably benign	Het
Slc24a5	T	C	2: 124,910,724 (GRCm39)	S52P	probably damaging	Het
Slc8a2	T	C	7: 15,875,039 (GRCm39)	V429A	probably damaging	Het
Spam1	G	A	6: 24,796,886 (GRCm39)	R279H	probably damaging	Het
Spata16	T	A	3: 26,967,487 (GRCm39)		probably benign	Het
Srfbp1	A	G	18: 52,620,588 (GRCm39)	D102G	probably damaging	Het
Srrm3	A	C	5: 135,902,136 (GRCm39)		probably benign	Het
Tbl1xr1	T	A	3: 22,254,751 (GRCm39)		probably benign	Het
Tk1	T	C	11: 117,712,933 (GRCm39)	E98G	probably damaging	Het
Trim13	G	A	14: 61,843,149 (GRCm39)	V389I	probably benign	Het
Ttc28	A	T	5: 111,383,366 (GRCm39)	Y1289F	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ugt1a10	T	A	1: 87,983,904 (GRCm39)	V234D	probably benign	Het
Vmn2r75	C	T	7: 85,814,575 (GRCm39)	G306E	probably benign	Het
Vmn2r86	C	T	10: 130,289,497 (GRCm39)	V133I	probably benign	Het
Vps13c	C	A	9: 67,841,758 (GRCm39)	Q1927K	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp219	T	A	14: 52,244,395 (GRCm39)	T550S	probably benign	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	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
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

Predicted Primers

Posted On

2015-02-04