Mutagenetix > Incidental Mutation

Incidental Mutation 'R4879:Kcnip4'

439460

Institutional Source

Beutler Lab

Gene Symbol

Kcnip4

Ensembl Gene

ENSMUSG00000029088

Gene Name

Kv channel interacting protein 4

Synonyms

Calp250, KChIP4a

MMRRC Submission

042488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48546844-49682249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48567207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 120 (D120G)

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

possibly damaging
Transcript: ENSMUST00000087395
AA Change: D120G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000084656
Gene: ENSMUSG00000029088
AA Change: D120G

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: D103G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000131276
Gene: ENSMUSG00000029088
AA Change: D103G

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: D95G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135799
Gene: ENSMUSG00000029088
AA Change: D95G

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: D86G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135071
Gene: ENSMUSG00000029088
AA Change: D86G

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

possibly damaging
Transcript: ENSMUST00000176978
AA Change: D99G

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134758
Gene: ENSMUSG00000029088
AA Change: D99G

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

0.1711

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (86/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,526 (GRCm39)	Y541F	probably damaging	Het
Acot12	T	A	13: 91,911,083 (GRCm39)	V136E	probably benign	Het
Aftph	A	G	11: 20,648,311 (GRCm39)		probably null	Het
Ambra1	C	T	2: 91,603,039 (GRCm39)		probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano9	T	C	7: 140,690,415 (GRCm39)	D73G	probably benign	Het
Asap3	G	A	4: 135,969,975 (GRCm39)	D778N	probably benign	Het
Atp8a2	G	T	14: 60,245,918 (GRCm39)	Y591*	probably null	Het
Blk	T	C	14: 63,613,414 (GRCm39)	T365A	probably benign	Het
C4b	G	T	17: 34,962,621 (GRCm39)	S27Y	probably damaging	Het
C6	G	T	15: 4,833,129 (GRCm39)		probably null	Het
Ccdc33	T	A	9: 57,974,839 (GRCm39)	I345F	possibly damaging	Het
Cetn3	T	A	13: 81,940,268 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,244,389 (GRCm39)	I387L	possibly damaging	Het
Cog8	A	G	8: 107,782,984 (GRCm39)	C102R	probably damaging	Het
Cspg4b	T	C	13: 113,456,321 (GRCm39)	I789T	probably benign	Het
Cyp2c55	CA	C	19: 39,030,522 (GRCm39)		probably null	Het
Defa40	T	A	8: 21,740,380 (GRCm39)	L62Q	probably damaging	Het
Dmxl1	C	T	18: 50,022,534 (GRCm39)	A1624V	probably damaging	Het
Dnah1	T	G	14: 31,022,705 (GRCm39)	E1144A	possibly damaging	Het
Dnah12	T	A	14: 26,439,201 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,367,517 (GRCm39)	T1794I	probably damaging	Het
Entrep1	T	C	19: 23,953,019 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,971,282 (GRCm39)	M778K	probably benign	Het
Fbxw10	G	T	11: 62,738,573 (GRCm39)	A156S	probably damaging	Het
Flnc	T	A	6: 29,460,805 (GRCm39)	F2632Y	probably damaging	Het
Frmd4a	A	G	2: 4,534,628 (GRCm39)	K160E	probably damaging	Het
Glipr1l2	A	G	10: 111,943,029 (GRCm39)	K295E	probably benign	Het
Herc1	T	A	9: 66,370,119 (GRCm39)	C465*	probably null	Het
Hoxb4	A	G	11: 96,211,014 (GRCm39)	I205V	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Il36a	A	G	2: 24,106,032 (GRCm39)	N29S	probably benign	Het
Ilk	A	G	7: 105,391,011 (GRCm39)	S292G	probably benign	Het
Itgb5	G	C	16: 33,696,348 (GRCm39)	G180R	probably damaging	Het
Josd1-ps	T	C	7: 27,648,768 (GRCm39)		noncoding transcript	Het
Kin	A	G	2: 10,085,455 (GRCm39)	D5G	probably benign	Het
Lrrtm2	C	A	18: 35,346,372 (GRCm39)	G310V	probably damaging	Het
Med1	T	C	11: 98,046,186 (GRCm39)		probably benign	Het
Mepce	C	A	5: 137,783,544 (GRCm39)		probably benign	Het
Nckipsd	T	A	9: 108,691,114 (GRCm39)		probably benign	Het
Notch3	T	A	17: 32,366,937 (GRCm39)	Q866L	probably benign	Het
Or52b4	A	T	7: 102,183,962 (GRCm39)	T3S	probably benign	Het
Or5l14	A	T	2: 87,793,040 (GRCm39)	H65Q	possibly damaging	Het
Or8k20	A	T	2: 86,106,107 (GRCm39)	C241*	probably null	Het
Orai1	T	C	5: 123,149,894 (GRCm39)		probably benign	Het
Pate12	G	A	9: 36,344,089 (GRCm39)	C24Y	probably damaging	Het
Pcdhb8	A	T	18: 37,489,219 (GRCm39)	E299V	probably damaging	Het
Pcnx4	G	A	12: 72,613,959 (GRCm39)	D635N	probably damaging	Het
Pex5	T	C	6: 124,375,322 (GRCm39)	I567V	probably benign	Het
Ppfibp2	T	C	7: 107,328,390 (GRCm39)	S485P	probably benign	Het
Sbno1	T	C	5: 124,542,087 (GRCm39)	Y356C	probably damaging	Het
Sdcbp	T	C	4: 6,381,056 (GRCm39)	I67T	possibly damaging	Het
Slc5a7	A	G	17: 54,583,679 (GRCm39)	I537T	probably benign	Het
Slc66a1	A	T	4: 139,029,095 (GRCm39)		probably null	Het
Smad4	A	G	18: 73,774,974 (GRCm39)	C442R	probably damaging	Het
Smpd5	A	G	15: 76,179,070 (GRCm39)	H146R	possibly damaging	Het
Snai2	A	G	16: 14,524,605 (GRCm39)	Y37C	probably benign	Het
Snapc4	C	T	2: 26,256,004 (GRCm39)	S840N	possibly damaging	Het
Stpg2	T	C	3: 138,921,134 (GRCm39)	I113T	probably benign	Het
Tbc1d32	T	C	10: 55,925,125 (GRCm39)		probably null	Het
Tfg	A	T	16: 56,521,520 (GRCm39)	S39R	probably damaging	Het
Thsd7b	T	A	1: 130,116,236 (GRCm39)	S1330T	possibly damaging	Het
Tnfaip3	T	C	10: 18,881,321 (GRCm39)	T322A	probably benign	Het
Tpra1	A	G	6: 88,888,691 (GRCm39)	Y291C	probably damaging	Het
Trcg1	A	G	9: 57,154,003 (GRCm39)	D658G	probably damaging	Het
Trip4	C	T	9: 65,782,304 (GRCm39)	V143I	probably benign	Het
Trp53bp1	T	C	2: 121,033,084 (GRCm39)	K1691E	probably damaging	Het
Ttc8	T	A	12: 98,908,562 (GRCm39)	M77K	possibly damaging	Het
Tubb2a	A	T	13: 34,258,572 (GRCm39)	M406K	probably benign	Het
Txnrd1	T	A	10: 82,717,751 (GRCm39)		probably null	Het
Ugt2a3	C	A	5: 87,479,144 (GRCm39)	R268L	probably benign	Het
Usp34	T	G	11: 23,323,410 (GRCm39)	M982R	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,102 (GRCm39)	K370N	probably benign	Het
Vopp1	A	T	6: 57,739,355 (GRCm39)		probably benign	Het
Vps11	A	C	9: 44,264,597 (GRCm39)	C660G	probably benign	Het
Wnk1	T	C	6: 119,926,338 (GRCm39)	H1137R	probably damaging	Het
Wtap	A	G	17: 13,188,322 (GRCm39)	Y193H	probably damaging	Het
Zfp462	T	A	4: 55,009,444 (GRCm39)	V470D	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
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
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'- CAGCTGCATGCCAACATAATAGG -3'
(R):5'- GCCAGAGGCTCACAGAAAATTC -3'

Sequencing Primer
(F):5'- CTGCATGCCAACATAATAGGAGAAAG -3'
(R):5'- ATTCGTCACCAATGGCCTCAG -3'

Posted On

2016-10-31