Mutagenetix > Incidental Mutation

Incidental Mutation 'R5685:Kcnn1'

443288

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71294693-71315902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71305374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 322 (C322S)

Ref Sequence

ENSEMBL: ENSMUSP00000148615 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110078
AA Change: C279S

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908
AA Change: C279S

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: C279S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908
AA Change: C279S

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 damaging
Transcript: ENSMUST00000212086
AA Change: C322S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212243
AA Change: C7S

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000212414

Predicted Effect

probably damaging
Transcript: ENSMUST00000212509
AA Change: C279S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212611
AA Change: C279S

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,879,974 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,896,348 (GRCm39)		probably null	Het
Abcg1	G	T	17: 31,317,260 (GRCm39)	E191*	probably null	Het
Als2	A	G	1: 59,218,250 (GRCm39)	Y1263H	possibly damaging	Het
Amer2	T	A	14: 60,617,026 (GRCm39)	L281*	probably null	Het
Anxa6	T	C	11: 54,887,196 (GRCm39)	N361D	probably benign	Het
Ap1g1	A	T	8: 110,564,415 (GRCm39)	N320I	probably damaging	Het
Aqr	T	C	2: 113,986,746 (GRCm39)	D208G	possibly damaging	Het
Arnt2	T	C	7: 83,912,473 (GRCm39)	T545A	probably benign	Het
Aspm	G	A	1: 139,415,026 (GRCm39)	V2701I	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Bbs2	A	C	8: 94,814,061 (GRCm39)	F186V	probably damaging	Het
Catsperg2	G	A	7: 29,400,613 (GRCm39)	P247L	probably damaging	Het
Cfap57	G	T	4: 118,426,656 (GRCm39)	Q1098K	probably benign	Het
Cxcr6	A	G	9: 123,639,811 (GRCm39)	T271A	probably benign	Het
Dock1	A	G	7: 134,374,091 (GRCm39)	E579G	probably benign	Het
Frem3	A	G	8: 81,421,932 (GRCm39)	T2111A	probably damaging	Het
Galnt1	A	T	18: 24,397,586 (GRCm39)	D229V	possibly damaging	Het
Gbp2b	A	C	3: 142,313,919 (GRCm39)	M400L	probably benign	Het
Gm1123	T	A	9: 98,891,486 (GRCm39)		probably null	Het
Gtpbp6	T	C	5: 110,252,805 (GRCm39)	H349R	probably damaging	Het
Hyal5	A	G	6: 24,876,691 (GRCm39)	K188R	probably benign	Het
Insrr	T	C	3: 87,707,803 (GRCm39)		probably null	Het
Kdelr1	GTCTA	G	7: 45,531,041 (GRCm39)		probably null	Het
Kif23	T	C	9: 61,852,691 (GRCm39)	T8A	probably benign	Het
Lrrk2	A	T	15: 91,687,504 (GRCm39)	R2198*	probably null	Het
Mcl1	T	G	3: 95,567,109 (GRCm39)	D177E	possibly damaging	Het
Mrps11	A	T	7: 78,441,628 (GRCm39)	T137S	probably benign	Het
Mtbp	A	G	15: 55,426,168 (GRCm39)	Y90C	probably damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nxt1	G	T	2: 148,517,673 (GRCm39)	W138L	possibly damaging	Het
Or5al1	T	C	2: 85,990,139 (GRCm39)	T192A	probably damaging	Het
Or5h17	T	A	16: 58,820,709 (GRCm39)	F220L	probably benign	Het
Or5t17	T	A	2: 86,832,621 (GRCm39)	S103T	probably benign	Het
Osbpl7	C	A	11: 96,951,103 (GRCm39)	P478H	probably damaging	Het
Phf8-ps	T	A	17: 33,285,746 (GRCm39)	H352L	probably benign	Het
Pitpna	T	A	11: 75,511,095 (GRCm39)	F222I	probably damaging	Het
Plekhh2	A	T	17: 84,877,310 (GRCm39)	R552W	probably damaging	Het
Plxnb2	C	T	15: 89,051,235 (GRCm39)	R328H	probably damaging	Het
Pmaip1	C	T	18: 66,594,055 (GRCm39)	T65I	probably benign	Het
Ppil4	T	G	10: 7,674,186 (GRCm39)	I110S	probably damaging	Het
Prpf38a	A	G	4: 108,427,351 (GRCm39)		probably null	Het
Psme4	G	A	11: 30,759,837 (GRCm39)	G320D	probably damaging	Het
Rab17	C	A	1: 90,886,679 (GRCm39)	R191L	probably benign	Het
Rhag	A	T	17: 41,142,222 (GRCm39)	M222L	possibly damaging	Het
Rims2	A	T	15: 39,300,602 (GRCm39)	H111L	possibly damaging	Het
Setx	T	C	2: 29,061,292 (GRCm39)	Y2234H	probably damaging	Het
Slc2a8	T	C	2: 32,871,801 (GRCm39)	I51V	possibly damaging	Het
Slc34a1	T	C	13: 55,549,085 (GRCm39)		probably null	Het
Slf1	T	C	13: 77,231,598 (GRCm39)	T594A	possibly damaging	Het
Sox6	A	T	7: 115,178,392 (GRCm39)		probably null	Het
Spata13	C	T	14: 60,928,652 (GRCm39)	S70L	probably benign	Het
Stard13	A	G	5: 150,986,592 (GRCm39)	I188T	possibly damaging	Het
Stard9	A	G	2: 120,535,803 (GRCm39)	D4020G	probably damaging	Het
Tdp1	A	G	12: 99,868,611 (GRCm39)	K255R	possibly damaging	Het
Tns2	G	T	15: 102,015,538 (GRCm39)	A124S	probably benign	Het
Top2b	T	A	14: 16,413,666 (GRCm38)	W1045R	probably damaging	Het
Trav12-2	T	C	14: 53,854,122 (GRCm39)	V32A	probably damaging	Het
Vps13c	G	T	9: 67,870,455 (GRCm39)	R3198L	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp52	T	A	17: 21,782,013 (GRCm39)	S620R	probably benign	Het
Zfp62	T	A	11: 49,107,044 (GRCm39)	C378*	probably null	Het
Zfp638	C	A	6: 83,906,969 (GRCm39)	P378H	probably damaging	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
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
R9084:Kcnn1	UTSW	8	71,307,810 (GRCm39)	small deletion	probably benign
R9308:Kcnn1	UTSW	8	71,305,434 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGTCCCCAGCCAGAGATC -3'
(R):5'- ACTATCGCTTCACGTGGACG -3'

Sequencing Primer
(F):5'- AGCCAGAGATCCTGAGGTC -3'
(R):5'- GCACGACTGGCCTTCTC -3'

Posted On

2016-11-09