Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03137:Kcnn1'

410579

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnn1

Ensembl Gene

ENSMUSG00000002908

Gene Name

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

Synonyms

SK1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03137

Quality Score

Status

Chromosome

Chromosomal Location

70842049-70863258 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70850737 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 34 (H34N)

Ref Sequence

ENSEMBL: ENSMUSP00000148482 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110078
AA Change: H306N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908
AA Change: H306N

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

possibly damaging
Transcript: ENSMUST00000110081
AA Change: H306N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908
AA Change: H306N

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

unknown
Transcript: ENSMUST00000212084
AA Change: H1N

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212086
AA Change: H349N

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212243
AA Change: H34N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000212414

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212509
AA Change: H306N

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212611
AA Change: H306N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,034,602	M569K	probably damaging	Het
AI481877	G	T	4: 59,094,162	F187L	probably benign	Het
Ankub1	T	C	3: 57,690,357	D64G	probably damaging	Het
Apobec2	C	T	17: 48,423,275	W121*	probably null	Het
Arid2	A	G	15: 96,371,318	N1104S	probably benign	Het
Brap	T	C	5: 121,665,093		probably benign	Het
Cilp	A	C	9: 65,278,168	N515T	probably benign	Het
Cpeb2	T	A	5: 43,261,724		probably benign	Het
Creb1	C	T	1: 64,576,215	T242I	possibly damaging	Het
Ddx60	T	C	8: 61,988,083	V1062A	possibly damaging	Het
Dock8	A	G	19: 25,155,948	E1153G	probably benign	Het
Gk5	A	G	9: 96,176,292		probably benign	Het
Gm5478	G	T	15: 101,644,382	N60K	probably benign	Het
Hmcn2	T	A	2: 31,362,230	V904D	probably damaging	Het
Hnmt	T	A	2: 24,048,739	H29L	probably damaging	Het
Hsf1	A	G	15: 76,496,449		probably benign	Het
Igkv1-122	C	A	6: 68,017,416	T96K	probably damaging	Het
Iyd	T	C	10: 3,551,987	I211T	probably damaging	Het
Krtap5-3	G	T	7: 142,202,209		probably benign	Het
Map3k19	C	T	1: 127,824,315	R433K	probably benign	Het
Mss51	A	C	14: 20,487,132	C89W	probably damaging	Het
Myh9	A	T	15: 77,791,089	I276N	probably damaging	Het
Myof	T	C	19: 37,974,889	E420G	probably damaging	Het
Nfatc2ip	C	A	7: 126,390,568	V215L	possibly damaging	Het
Olfr1113	A	T	2: 87,213,156	Y88F	probably benign	Het
Olfr631	T	C	7: 103,929,594	M257T	probably benign	Het
Olfr73	G	A	2: 88,034,410	A243V	probably benign	Het
Pcdhb4	T	C	18: 37,308,516	I293T	probably damaging	Het
Pdcd6ip	A	G	9: 113,657,145	S729P	possibly damaging	Het
Pick1	C	A	15: 79,245,301	H169N	possibly damaging	Het
Ppp4r4	A	C	12: 103,581,384	K212T	probably damaging	Het
Racgap1	A	G	15: 99,628,741	S314P	probably damaging	Het
Rasef	C	A	4: 73,734,483	E594*	probably null	Het
Ryr3	T	G	2: 112,910,397	K522Q	probably benign	Het
Six5	T	C	7: 19,097,147		probably benign	Het
Slc26a9	G	T	1: 131,763,877	E619D	probably benign	Het
Sqor	A	G	2: 122,808,071	I412V	probably benign	Het
Srrt	T	A	5: 137,296,117		probably benign	Het
Sult1e1	C	T	5: 87,578,616	R213K	probably benign	Het
Tmc2	T	A	2: 130,240,130	L411H	probably damaging	Het
Tmem63b	T	A	17: 45,664,995	N511Y	probably damaging	Het
Ucp3	T	A	7: 100,482,762		probably benign	Het
Vmn1r201	A	T	13: 22,474,804	I63F	probably benign	Het
Vps13c	G	T	9: 67,890,380	L522F	probably damaging	Het
Wwp1	T	A	4: 19,678,408	T3S	probably damaging	Het
Zc3hav1	A	G	6: 38,332,394	S498P	probably benign	Het

Other mutations in Kcnn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Kcnn1	APN	8	70848062	missense	probably benign
IGL00498:Kcnn1	APN	8	70852880	missense	probably damaging	1.00
IGL00792:Kcnn1	APN	8	70854716	missense	probably benign	0.01
IGL03122:Kcnn1	APN	8	70855080	missense	probably damaging	1.00
IGL03222:Kcnn1	APN	8	70848199	missense	probably damaging	1.00
IGL03226:Kcnn1	APN	8	70846491	splice site	probably benign
R0586:Kcnn1	UTSW	8	70863869	unclassified	probably benign
R1218:Kcnn1	UTSW	8	70852688	missense	probably benign	0.07
R1437:Kcnn1	UTSW	8	70844551	missense	probably benign	0.03
R1510:Kcnn1	UTSW	8	70864070	unclassified	probably benign
R2434:Kcnn1	UTSW	8	70855166	small deletion	probably benign
R2860:Kcnn1	UTSW	8	70846535	missense	probably benign	0.36
R2861:Kcnn1	UTSW	8	70846535	missense	probably benign	0.36
R4327:Kcnn1	UTSW	8	70852663	missense	probably damaging	0.99
R4807:Kcnn1	UTSW	8	70848178	missense	probably damaging	0.99
R4947:Kcnn1	UTSW	8	70844429	missense	probably benign	0.02
R5265:Kcnn1	UTSW	8	70854653	missense	probably benign	0.07
R5685:Kcnn1	UTSW	8	70852730	missense	probably damaging	1.00
R6108:Kcnn1	UTSW	8	70855156	missense	probably benign	0.27
R6523:Kcnn1	UTSW	8	70846525	missense	possibly damaging	0.57
R7512:Kcnn1	UTSW	8	70854649	missense	possibly damaging	0.64
R8219:Kcnn1	UTSW	8	70852855	missense	probably damaging	1.00
R8310:Kcnn1	UTSW	8	70852805	missense	possibly damaging	0.83

Posted On

2016-08-02