Mutagenetix > Incidental Mutation

Incidental Mutation 'R8809:Kcnn1'

672279

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

068645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71294693-71315902 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 71305297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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 null
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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	C	T	10: 89,550,841 (GRCm39)	V318I	probably benign	Het
Adam29	A	G	8: 56,325,659 (GRCm39)	I265T	probably benign	Het
Ankdd1a	A	T	9: 65,415,422 (GRCm39)		probably benign	Het
Arcn1	T	C	9: 44,655,259 (GRCm39)	T501A	possibly damaging	Het
B3gntl1	A	T	11: 121,521,690 (GRCm39)	F166I	possibly damaging	Het
Brap	T	C	5: 121,822,524 (GRCm39)	S467P	possibly damaging	Het
Cenpb	A	G	2: 131,020,322 (GRCm39)	V492A	unknown	Het
Ces1b	C	A	8: 93,786,948 (GRCm39)	G477V	probably damaging	Het
Ces1b	C	T	8: 93,786,949 (GRCm39)	G477R	probably damaging	Het
Cfap65	T	C	1: 74,942,382 (GRCm39)	K1724R	probably benign	Het
Chrd	A	T	16: 20,553,270 (GRCm39)	Q182L	probably benign	Het
Chrnb2	T	C	3: 89,664,457 (GRCm39)	T486A	probably benign	Het
Col25a1	A	T	3: 130,354,466 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,295,916 (GRCm39)	Y101H	unknown	Het
Crybg1	T	C	10: 43,879,428 (GRCm39)	T587A	probably damaging	Het
Ctnnal1	T	A	4: 56,835,374 (GRCm39)	N301I	possibly damaging	Het
Cyp2f2	A	T	7: 26,831,995 (GRCm39)	N417Y	probably damaging	Het
Dnah6	T	A	6: 73,009,546 (GRCm39)	E3800D	possibly damaging	Het
Dync2i1	A	G	12: 116,193,234 (GRCm39)	S573P	probably damaging	Het
Ehmt2	C	A	17: 35,127,489 (GRCm39)	T906K	probably damaging	Het
Fbxo15	A	G	18: 84,978,200 (GRCm39)	H183R	possibly damaging	Het
Fgl1	T	A	8: 41,650,368 (GRCm39)	K194*	probably null	Het
Fxr1	G	A	3: 34,108,430 (GRCm39)	V314I	possibly damaging	Het
Hrnr	A	G	3: 93,239,443 (GRCm39)	Q3227R	unknown	Het
Ier5	G	A	1: 154,974,716 (GRCm39)	A154V	probably benign	Het
Igkc	T	G	6: 70,703,502 (GRCm39)	L28V		Het
Kcnh1	G	A	1: 191,903,722 (GRCm39)	G54D	probably damaging	Het
Kifbp	C	T	10: 62,395,491 (GRCm39)	D384N	possibly damaging	Het
Klra2	T	A	6: 131,197,198 (GRCm39)	N234I	possibly damaging	Het
Krtap4-9	T	C	11: 99,676,454 (GRCm39)	I125T	unknown	Het
Lrig2	T	C	3: 104,368,993 (GRCm39)	T897A	probably benign	Het
Lyve1	G	T	7: 110,452,999 (GRCm39)	T199K	probably damaging	Het
Myorg	T	C	4: 41,498,812 (GRCm39)	T273A	probably benign	Het
Napa	A	G	7: 15,846,551 (GRCm39)	D113G	possibly damaging	Het
Neurog1	GGTG	GGTGTG	13: 56,399,098 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,437,964 (GRCm39)	H91Q	probably damaging	Het
Or4c11c	T	C	2: 88,662,256 (GRCm39)	M265T	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or52e3	A	T	7: 102,869,446 (GRCm39)	N174Y	probably benign	Het
Or5k16	T	A	16: 58,736,248 (GRCm39)	Y252F	probably damaging	Het
Or7g16	A	G	9: 18,726,919 (GRCm39)	S224P	probably damaging	Het
Pccb	A	T	9: 100,867,220 (GRCm39)	Y455*	probably null	Het
Pdk2	A	T	11: 94,923,339 (GRCm39)	I95N	probably damaging	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pkd1l2	A	G	8: 117,726,660 (GRCm39)	L2282P	probably damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prdm1	A	T	10: 44,315,749 (GRCm39)	S796T	probably benign	Het
Rb1	A	G	14: 73,503,000 (GRCm39)	F424L	probably damaging	Het
Retreg3	A	G	11: 100,992,852 (GRCm39)	L190P	probably damaging	Het
Rffl	A	G	11: 82,700,864 (GRCm39)	Y321H	probably damaging	Het
Rlbp1	A	G	7: 79,025,704 (GRCm39)	Y246H	probably damaging	Het
Rock2	T	A	12: 17,015,655 (GRCm39)		probably benign	Het
Slc17a3	C	A	13: 24,039,575 (GRCm39)	C244*	probably null	Het
Snapc1	T	C	12: 74,021,812 (GRCm39)	S304P	probably benign	Het
Sp9	T	C	2: 73,104,019 (GRCm39)	L191P	probably damaging	Het
Spag17	A	T	3: 99,889,738 (GRCm39)	E202D	probably benign	Het
Ss18	A	G	18: 14,760,344 (GRCm39)	*419R	probably null	Het
Tacc2	A	G	7: 130,276,421 (GRCm39)	E1824G	possibly damaging	Het
Tacc3	T	A	5: 33,824,029 (GRCm39)		probably benign	Het
Tfap2a	A	T	13: 40,870,829 (GRCm39)	L353Q	probably damaging	Het
Ugt3a1	A	G	15: 9,367,345 (GRCm39)	I363V	possibly damaging	Het
Vmn1r158	A	G	7: 22,489,775 (GRCm39)	C145R	probably damaging	Het
Vmn1r23	A	T	6: 57,903,352 (GRCm39)	I142K	probably damaging	Het
Vmn2r15	A	T	5: 109,434,874 (GRCm39)	I610N	probably benign	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zbtb7c	T	C	18: 76,270,190 (GRCm39)	Y93H	probably damaging	Het
Zfp62	A	G	11: 49,107,238 (GRCm39)	N443S	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
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
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'- GCTCCCCAGAAATTAGAAAGTGG -3'
(R):5'- ATCTTCACCGATGCATCCAG -3'

Sequencing Primer
(F):5'- CTGCTGGGCTGAAGTCAGAG -3'
(R):5'- ATCCAGCCGCAGCATCG -3'

Posted On

2021-04-30