Mutagenetix > Incidental Mutation

Incidental Mutation 'R9084:Kcnn1'

690463

Institutional Source

Beutler Lab

Gene Symbol

Kcnn1

Ensembl Gene

ENSMUSG00000002908

Gene Name

potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1

Synonyms

SK1

MMRRC Submission

068903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9084 (G1)

Quality Score

113.467

Status

Not validated

Chromosome

Chromosomal Location

71294693-71315902 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GTCCTCCTCCTCCTCCTCCTC to GTCCTCCTCCTCCTCCTC at 71307810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110078] [ENSMUST00000110081] [ENSMUST00000212086] [ENSMUST00000212243] [ENSMUST00000212414] [ENSMUST00000212509] [ENSMUST00000212611]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110078

SMART Domains

Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
Pfam:SK_channel	90	208	3.7e-59	PFAM
low complexity region	234	245	N/A	INTRINSIC
Pfam:Ion_trans_2	275	369	9.6e-16	PFAM
CaMBD	382	461	1.99e-46	SMART
low complexity region	467	487	N/A	INTRINSIC
low complexity region	507	516	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110081

SMART Domains

Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
Pfam:SK_channel	90	203	4.9e-51	PFAM
low complexity region	234	245	N/A	INTRINSIC
Pfam:Ion_trans_2	274	368	1.7e-15	PFAM
CaMBD	382	462	3.71e-46	SMART
low complexity region	468	488	N/A	INTRINSIC
low complexity region	508	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212084

Predicted Effect

probably benign
Transcript: ENSMUST00000212086

Predicted Effect

probably benign
Transcript: ENSMUST00000212243

Predicted Effect

probably benign
Transcript: ENSMUST00000212414

Predicted Effect

probably benign
Transcript: ENSMUST00000212509

Predicted Effect

probably benign
Transcript: ENSMUST00000212611

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display normal hippocampal morphology and afterhyperpolarization currents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,016 (GRCm39)	K93E	probably damaging	Het
Adam21	T	C	12: 81,606,160 (GRCm39)	Y534C	probably damaging	Het
Add1	A	G	5: 34,763,186 (GRCm39)	T125A	probably damaging	Het
Ank3	T	C	10: 69,786,879 (GRCm39)	V981A	probably benign	Het
Ankrd34b	T	A	13: 92,575,720 (GRCm39)	D317E	probably benign	Het
Arhgap9	T	C	10: 127,158,114 (GRCm39)	S44P	possibly damaging	Het
Atg7	T	C	6: 114,678,896 (GRCm39)	S370P	probably damaging	Het
Atp1b2	T	C	11: 69,492,388 (GRCm39)	D224G	probably damaging	Het
C1qtnf6	T	C	15: 78,409,283 (GRCm39)	Y188C	probably damaging	Het
Col22a1	T	C	15: 71,691,929 (GRCm39)	D1297G	unknown	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Csmd1	T	C	8: 16,138,325 (GRCm39)	I1576V	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dusp6	T	C	10: 99,099,692 (GRCm39)	S47P	probably benign	Het
Fam163a	T	A	1: 155,955,730 (GRCm39)	I21F	probably damaging	Het
Fer1l5	A	G	1: 36,429,619 (GRCm39)	D457G	probably benign	Het
Fyn	C	T	10: 39,402,845 (GRCm39)	R206C	probably damaging	Het
Git2	G	T	5: 114,902,515 (GRCm39)	H172Q	probably damaging	Het
Gm21698	T	A	5: 26,190,244 (GRCm39)	H151L	probably damaging	Het
Gm4924	T	A	10: 82,213,953 (GRCm39)	C584S	unknown	Het
Hspb8	A	G	5: 116,560,492 (GRCm39)	L16P	probably benign	Het
Ipo9	T	C	1: 135,334,563 (GRCm39)	H282R	probably benign	Het
Kmt2a	T	C	9: 44,740,130 (GRCm39)	D1871G	unknown	Het
Lrrk2	A	T	15: 91,634,469 (GRCm39)	Q1411L		Het
Med13	A	G	11: 86,191,621 (GRCm39)	S914P	probably damaging	Het
Med15	T	C	16: 17,471,072 (GRCm39)	H706R	probably damaging	Het
Mfsd2a	T	C	4: 122,843,994 (GRCm39)	Y325C	probably damaging	Het
Mrpl9	T	A	3: 94,354,558 (GRCm39)		probably benign	Het
Ncoa2	A	C	1: 13,244,653 (GRCm39)	S682A	probably damaging	Het
Nfe2l1	A	T	11: 96,710,957 (GRCm39)	M424K	probably damaging	Het
Nid1	T	C	13: 13,652,925 (GRCm39)		probably null	Het
Or1f19	T	G	16: 3,410,617 (GRCm39)	M119R	probably damaging	Het
Or4f7	A	G	2: 111,644,996 (GRCm39)	L25P	probably damaging	Het
Or4k15b	T	C	14: 50,271,916 (GRCm39)	I315V	probably benign	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or6d15	C	T	6: 116,559,232 (GRCm39)	R225H	probably benign	Het
Or8g33	A	T	9: 39,337,521 (GRCm39)	V282E	probably damaging	Het
Pcnt	T	C	10: 76,235,826 (GRCm39)	D1385G	probably benign	Het
Pcx	A	G	19: 4,669,868 (GRCm39)	Y846C	probably damaging	Het
Prune2	A	G	19: 17,097,741 (GRCm39)	M1082V	probably damaging	Het
Ptprm	A	C	17: 67,263,948 (GRCm39)	V433G	possibly damaging	Het
Pvr	G	T	7: 19,650,937 (GRCm39)	Q196K	possibly damaging	Het
Reck	A	G	4: 43,922,809 (GRCm39)		probably benign	Het
Ripk2	T	C	4: 16,123,795 (GRCm39)	D460G	probably damaging	Het
Ryr2	T	C	13: 11,616,724 (GRCm39)	D3898G	probably damaging	Het
Skint8	A	G	4: 111,794,210 (GRCm39)	H200R	probably benign	Het
Slamf1	A	T	1: 171,602,522 (GRCm39)	D83V	probably damaging	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Spata31d1c	A	G	13: 65,182,959 (GRCm39)	D167G	probably benign	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Syne1	T	A	10: 5,289,240 (GRCm39)	D1420V	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem116	A	G	5: 121,627,387 (GRCm39)	S211G		Het
Tmprss6	C	T	15: 78,338,417 (GRCm39)	V310M	probably damaging	Het
Ttn	A	G	2: 76,612,722 (GRCm39)	I17119T	probably damaging	Het
Tubb1	T	A	2: 174,299,197 (GRCm39)	M293K	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uncx	T	C	5: 139,529,753 (GRCm39)	M2T	possibly damaging	Het
Washc4	T	C	10: 83,422,499 (GRCm39)	F943L	possibly damaging	Het
Xkr9	G	A	1: 13,742,733 (GRCm39)	C6Y	probably benign	Het
Zfp458	A	T	13: 67,407,633 (GRCm39)	V74E	probably benign	Het

Other mutations in Kcnn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Kcnn1	APN	8	71,300,706 (GRCm39)	missense	probably benign
IGL00498:Kcnn1	APN	8	71,305,524 (GRCm39)	missense	probably damaging	1.00
IGL00792:Kcnn1	APN	8	71,307,360 (GRCm39)	missense	probably benign	0.01
IGL03122:Kcnn1	APN	8	71,307,724 (GRCm39)	missense	probably damaging	1.00
IGL03137:Kcnn1	APN	8	71,303,381 (GRCm39)	missense	probably damaging	0.97
IGL03222:Kcnn1	APN	8	71,300,843 (GRCm39)	missense	probably damaging	1.00
IGL03226:Kcnn1	APN	8	71,299,135 (GRCm39)	splice site	probably benign
R0586:Kcnn1	UTSW	8	71,316,513 (GRCm39)	unclassified	probably benign
R1218:Kcnn1	UTSW	8	71,305,332 (GRCm39)	missense	probably benign	0.07
R1437:Kcnn1	UTSW	8	71,297,195 (GRCm39)	missense	probably benign	0.03
R1510:Kcnn1	UTSW	8	71,316,714 (GRCm39)	unclassified	probably benign
R2434:Kcnn1	UTSW	8	71,307,810 (GRCm39)	small deletion	probably benign
R2860:Kcnn1	UTSW	8	71,299,179 (GRCm39)	missense	probably benign	0.36
R2861:Kcnn1	UTSW	8	71,299,179 (GRCm39)	missense	probably benign	0.36
R4327:Kcnn1	UTSW	8	71,305,307 (GRCm39)	missense	probably damaging	0.99
R4807:Kcnn1	UTSW	8	71,300,822 (GRCm39)	missense	probably damaging	0.99
R4947:Kcnn1	UTSW	8	71,297,073 (GRCm39)	missense	probably benign	0.02
R5265:Kcnn1	UTSW	8	71,307,297 (GRCm39)	missense	probably benign	0.07
R5685:Kcnn1	UTSW	8	71,305,374 (GRCm39)	missense	probably damaging	1.00
R6108:Kcnn1	UTSW	8	71,307,800 (GRCm39)	missense	probably benign	0.27
R6523:Kcnn1	UTSW	8	71,299,169 (GRCm39)	missense	possibly damaging	0.57
R7512:Kcnn1	UTSW	8	71,307,293 (GRCm39)	missense	possibly damaging	0.64
R8219:Kcnn1	UTSW	8	71,305,499 (GRCm39)	missense	probably damaging	1.00
R8310:Kcnn1	UTSW	8	71,305,449 (GRCm39)	missense	possibly damaging	0.83
R8809:Kcnn1	UTSW	8	71,305,297 (GRCm39)	critical splice donor site	probably null
R9308:Kcnn1	UTSW	8	71,305,434 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTACCTTGGTGTATACAC -3'
(R):5'- AGTAGCCACAGCCACAATGG -3'

Sequencing Primer
(F):5'- GTGTATACACCCCAGGACAG -3'
(R):5'- CACAATGGCAGCGTGGG -3'

Posted On

2021-12-30