Mutagenetix > Incidental Mutation

Incidental Mutation 'R8219:Kcnn1'

636557

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

067659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71294693-71315902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71305499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 237 (Y237C)

Ref Sequence

ENSEMBL: ENSMUSP00000105705 (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 damaging
Transcript: ENSMUST00000110078
AA Change: Y237C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908
AA Change: Y237C

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 damaging
Transcript: ENSMUST00000110081
AA Change: Y237C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908
AA Change: Y237C

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: Y280C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212243

Predicted Effect

probably benign
Transcript: ENSMUST00000212414

Predicted Effect

probably benign
Transcript: ENSMUST00000212509

Predicted Effect

probably damaging
Transcript: ENSMUST00000212611
AA Change: Y237C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,833,363 (GRCm39)	S80T	unknown	Het
Acnat1	T	A	4: 49,447,748 (GRCm39)	I278F	probably benign	Het
Adgrf5	A	T	17: 43,760,750 (GRCm39)	Q815L	probably benign	Het
Aff1	T	A	5: 103,994,199 (GRCm39)	Y1022N	probably damaging	Het
Ahi1	A	G	10: 20,950,335 (GRCm39)	K1034E	probably benign	Het
Ano8	A	T	8: 71,933,357 (GRCm39)	L645Q	unknown	Het
Atg9b	A	G	5: 24,591,330 (GRCm39)	L756P	probably damaging	Het
Atp2b2	A	T	6: 113,770,811 (GRCm39)	I411N	probably damaging	Het
Bmp6	T	A	13: 38,529,963 (GRCm39)	C19S	unknown	Het
Borcs5	A	G	6: 134,621,313 (GRCm39)	H27R	probably benign	Het
Cachd1	C	A	4: 100,848,159 (GRCm39)	D1091E	probably benign	Het
Ccdc186	T	A	19: 56,781,777 (GRCm39)	M801L	probably benign	Het
Clcn3	A	T	8: 61,376,000 (GRCm39)	M658K	probably damaging	Het
Col1a1	C	T	11: 94,834,184 (GRCm39)	R500C	probably damaging	Het
Cul4a	T	A	8: 13,196,540 (GRCm39)	D731E	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E2f7	T	A	10: 110,595,704 (GRCm39)	V133E	probably damaging	Het
Fam161b	T	C	12: 84,393,648 (GRCm39)	E575G	probably benign	Het
Fubp1	T	A	3: 151,926,103 (GRCm39)	V275D	probably damaging	Het
Gabrg1	T	A	5: 70,931,643 (GRCm39)	R367*	probably null	Het
Gm6902	G	A	7: 22,973,143 (GRCm39)	A128V	probably benign	Het
Gnptab	A	G	10: 88,269,654 (GRCm39)	T786A	probably benign	Het
Golga2	A	G	2: 32,196,492 (GRCm39)	N981D	probably damaging	Het
Gsap	A	T	5: 21,456,113 (GRCm39)	I437L	probably benign	Het
Gulp1	A	G	1: 44,793,501 (GRCm39)		probably null	Het
Klhl28	A	T	12: 64,998,431 (GRCm39)	N354K	probably benign	Het
Lama3	T	C	18: 12,572,417 (GRCm39)	Y541H	probably benign	Het
Lamc1	A	G	1: 153,123,073 (GRCm39)	Y706H	probably damaging	Het
Lima1	G	T	15: 99,678,671 (GRCm39)	T590K	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mrgprb8	G	A	7: 48,038,649 (GRCm39)	V107M	possibly damaging	Het
Mrpl3	T	A	9: 104,934,271 (GRCm39)	N139K	possibly damaging	Het
Nhsl3	T	A	4: 129,141,946 (GRCm39)	D65V	possibly damaging	Het
Nudt16	T	A	9: 105,007,636 (GRCm39)	N161I	probably damaging	Het
Obscn	G	A	11: 59,013,574 (GRCm39)	S1091L	probably benign	Het
Oog4	T	C	4: 143,166,508 (GRCm39)	M99V	probably benign	Het
Or5b105	A	C	19: 13,080,284 (GRCm39)	L122R	probably damaging	Het
Or8c16	A	C	9: 38,130,668 (GRCm39)	D183A	probably damaging	Het
Osbpl6	A	T	2: 76,386,247 (GRCm39)	D303V	probably damaging	Het
Pcdhb21	T	C	18: 37,647,708 (GRCm39)	F279S	probably damaging	Het
Peg3	G	A	7: 6,711,364 (GRCm39)	T1286I	probably benign	Het
Phax	A	G	18: 56,708,754 (GRCm39)	N106S	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprn2	C	A	12: 117,148,357 (GRCm39)	Q706K	probably benign	Het
Rdh11	T	G	12: 79,235,880 (GRCm39)	K23Q	probably benign	Het
Rit2	T	A	18: 31,108,547 (GRCm39)	E146V	probably damaging	Het
Rnf141	T	C	7: 110,436,472 (GRCm39)		probably benign	Het
Sars1	T	A	3: 108,352,378 (GRCm39)	E24V	probably benign	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Slc10a5	G	T	3: 10,400,384 (GRCm39)	P92Q	probably benign	Het
Slc24a5	A	T	2: 124,927,575 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Slc6a5	A	G	7: 49,561,911 (GRCm39)	M148V	probably benign	Het
Sorl1	T	C	9: 41,952,857 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,874,117 (GRCm39)	Y119F	probably benign	Het
Tgm6	A	G	2: 129,993,200 (GRCm39)	K562R	probably benign	Het
Tlr3	T	C	8: 45,851,016 (GRCm39)	E627G	possibly damaging	Het
Tmprss11f	A	G	5: 86,677,878 (GRCm39)	L297P	probably damaging	Het
Tpbgl	T	C	7: 99,274,978 (GRCm39)	H293R	probably benign	Het
Trank1	A	C	9: 111,193,977 (GRCm39)	K667T	probably damaging	Het
Trpm1	A	T	7: 63,851,699 (GRCm39)	Q139L	probably benign	Het
Ttf2	T	G	3: 100,869,879 (GRCm39)	K398T	possibly damaging	Het
Xpa	A	T	4: 46,183,150 (GRCm39)	M213K	probably benign	Het
Zmym2	T	A	14: 57,163,316 (GRCm39)	S623T	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
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'- TTGGGTTCAAGGACAGGACG -3'
(R):5'- TCTTGGTGGACAATGGTGCC -3'

Sequencing Primer
(F):5'- GTCGGTCACCTCTCACACACG -3'
(R):5'- ACAATGGTGCCGACGACTG -3'

Posted On

2020-07-13