Mutagenetix > Incidental Mutation

Incidental Mutation 'R8130:Kcnip3'

631951

Institutional Source

Beutler Lab

Gene Symbol

Kcnip3

Ensembl Gene

ENSMUSG00000079056

Gene Name

Kv channel interacting protein 3, calsenilin

Synonyms

Csen, DREAM, 4933407H12Rik, R74849, KChIP3

MMRRC Submission

067559-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127298418-127364014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127352828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 64 (A64T)

Ref Sequence

ENSEMBL: ENSMUSP00000028850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028850] [ENSMUST00000103215]

AlphaFold

Q9QXT8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028850
AA Change: A64T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028850
Gene: ENSMUSG00000079056
AA Change: A64T

Domain	Start	End	E-Value	Type
EFh	158	186	1.74e-1	SMART
EFh	194	222	3.82e-7	SMART
EFh	242	270	3.79e-2	SMART

Predicted Effect

silent
Transcript: ENSMUST00000103215

SMART Domains

Protein: ENSMUSP00000099504
Gene: ENSMUSG00000079056

Domain	Start	End	E-Value	Type
low complexity region	60	70	N/A	INTRINSIC
EFh	130	158	1.74e-1	SMART
EFh	166	194	3.82e-7	SMART
EFh	214	242	3.79e-2	SMART

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

96% (52/54)

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, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal spatial learning, hyperactivity, hypophagia, increased sensitivity to shock, and enhanced long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,271 (GRCm39)	I130M	probably damaging	Het
4921539E11Rik	T	C	4: 103,092,895 (GRCm39)	D142G	probably damaging	Het
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Arfgef2	T	A	2: 166,678,170 (GRCm39)	S218T	possibly damaging	Het
Armc8	C	T	9: 99,433,600 (GRCm39)	V40I	probably benign	Het
Caps2	A	T	10: 112,018,381 (GRCm39)	D177V	probably benign	Het
Cdh8	A	T	8: 99,757,676 (GRCm39)	F641I	probably damaging	Het
Cemip	T	C	7: 83,596,384 (GRCm39)	S1127G	probably benign	Het
Cmtm1	C	A	8: 105,036,088 (GRCm39)	Q180H	unknown	Het
Col15a1	C	T	4: 47,312,196 (GRCm39)	T1337I	probably damaging	Het
Col18a1	A	T	10: 76,910,284 (GRCm39)	M555K	probably benign	Het
Ctrb1	A	G	8: 112,415,823 (GRCm39)	F89L	possibly damaging	Het
Disp1	T	C	1: 182,917,199 (GRCm39)	T76A	probably benign	Het
Dpep1	T	C	8: 123,926,965 (GRCm39)	V263A	probably damaging	Het
Dysf	G	A	6: 84,114,358 (GRCm39)	E1216K	probably damaging	Het
F830016B08Rik	A	G	18: 60,433,052 (GRCm39)	Y45C	probably benign	Het
Fam186a	CGG	CG	15: 99,841,914 (GRCm39)		probably null	Het
Gcm1	T	A	9: 77,971,816 (GRCm39)	D252E	probably benign	Het
Gm11559	A	G	11: 99,755,416 (GRCm39)	T22A	unknown	Het
Gm4847	C	T	1: 166,465,917 (GRCm39)	R224Q	probably damaging	Het
Hypk	A	G	2: 121,286,859 (GRCm39)		probably benign	Het
I830077J02Rik	C	T	3: 105,834,233 (GRCm39)	C64Y	possibly damaging	Het
Igkv4-86	T	C	6: 68,887,650 (GRCm39)	I30V	probably benign	Het
Il17ra	A	G	6: 120,455,416 (GRCm39)	I342V	probably benign	Het
Kdm5d	T	A	Y: 940,658 (GRCm39)	D1056E	possibly damaging	Het
Kif19b	C	T	5: 140,460,716 (GRCm39)	R461C	probably damaging	Het
Krtap19-2	C	T	16: 88,670,903 (GRCm39)	G81R	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lpin1	A	T	12: 16,629,965 (GRCm39)	I69N		Het
Matcap1	G	A	8: 106,012,145 (GRCm39)	R101W	probably benign	Het
Mki67	C	T	7: 135,299,293 (GRCm39)	D1914N	probably damaging	Het
Mmrn1	A	T	6: 60,937,707 (GRCm39)	Q235L	probably damaging	Het
Mndal	T	A	1: 173,699,111 (GRCm39)	K185*	probably null	Het
Muc6	T	C	7: 141,233,354 (GRCm39)	T802A	probably damaging	Het
Necab1	A	T	4: 15,005,073 (GRCm39)	F130L	probably damaging	Het
Nemf	A	T	12: 69,402,826 (GRCm39)	M70K	possibly damaging	Het
Nploc4	A	G	11: 120,280,240 (GRCm39)	I436T	possibly damaging	Het
Obscn	C	A	11: 59,015,439 (GRCm39)	R1011M	probably damaging	Het
Or4k44	A	T	2: 111,367,825 (GRCm39)	F270I	probably damaging	Het
Or5aq1b	T	C	2: 86,901,570 (GRCm39)	K303E	probably benign	Het
Or8k24	T	A	2: 86,215,911 (GRCm39)	M284L	probably benign	Het
Ormdl1	T	A	1: 53,338,139 (GRCm39)	M1K	probably null	Het
Pramel34	A	T	5: 93,784,597 (GRCm39)	L289Q	probably damaging	Het
Psmb3	A	G	11: 97,594,723 (GRCm39)	D38G	probably benign	Het
Psme4	T	A	11: 30,792,026 (GRCm39)	L1171Q	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc22a18	G	A	7: 143,052,911 (GRCm39)	V379I	probably damaging	Het
Speg	T	A	1: 75,392,240 (GRCm39)	F1632L	probably damaging	Het
Taok1	G	A	11: 77,470,659 (GRCm39)	R49C	possibly damaging	Het
Ttll6	T	C	11: 96,047,425 (GRCm39)	S675P	probably benign	Het
Usp8	A	T	2: 126,559,918 (GRCm39)		probably benign	Het
Vmn2r81	T	A	10: 79,110,538 (GRCm39)	N550K	possibly damaging	Het
Zfp119a	A	T	17: 56,172,971 (GRCm39)	C291S	probably damaging	Het
Zfp329	C	A	7: 12,544,313 (GRCm39)	G404C	probably damaging	Het
Zfp934	C	A	13: 62,667,985 (GRCm39)		probably null	Het

Other mutations in Kcnip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Kcnip3	APN	2	127,352,799 (GRCm39)	missense	probably benign	0.44
R0277:Kcnip3	UTSW	2	127,301,899 (GRCm39)	splice site	probably benign
R0410:Kcnip3	UTSW	2	127,301,986 (GRCm39)	missense	probably damaging	1.00
R0601:Kcnip3	UTSW	2	127,300,317 (GRCm39)	splice site	probably benign
R1183:Kcnip3	UTSW	2	127,306,985 (GRCm39)	missense	probably damaging	1.00
R1868:Kcnip3	UTSW	2	127,301,263 (GRCm39)	missense	probably damaging	1.00
R2265:Kcnip3	UTSW	2	127,306,981 (GRCm39)	missense	probably benign	0.40
R2443:Kcnip3	UTSW	2	127,301,983 (GRCm39)	missense	probably damaging	1.00
R3797:Kcnip3	UTSW	2	127,323,934 (GRCm39)	missense	probably benign	0.01
R5077:Kcnip3	UTSW	2	127,307,797 (GRCm39)	missense	probably damaging	0.99
R6834:Kcnip3	UTSW	2	127,300,278 (GRCm39)	missense	probably damaging	1.00
R7084:Kcnip3	UTSW	2	127,352,856 (GRCm39)	missense	probably benign
R7234:Kcnip3	UTSW	2	127,363,256 (GRCm39)	missense	unknown
R7813:Kcnip3	UTSW	2	127,323,703 (GRCm39)	splice site	probably null
R8178:Kcnip3	UTSW	2	127,323,934 (GRCm39)	missense	probably benign	0.01
R9469:Kcnip3	UTSW	2	127,307,322 (GRCm39)	missense	probably benign	0.01
R9618:Kcnip3	UTSW	2	127,352,812 (GRCm39)	missense	probably benign	0.04
Z1177:Kcnip3	UTSW	2	127,352,801 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTAGAGCTCTGGTATTAGCGAAG -3'
(R):5'- TCACCCAGGATATCAGAGTGG -3'

Sequencing Primer
(F):5'- TGAAGACATGTTTCCCAACAGAG -3'
(R):5'- CCAGGATATCAGAGTGGCCGATAG -3'

Posted On

2020-06-30