Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Kcnn1'

370763

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

042426-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71294693-71315902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71300822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 473 (H473L)

Ref Sequence

ENSEMBL: ENSMUSP00000148615 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000110078
AA Change: H430L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908
AA Change: H430L

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: H430L

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908
AA Change: H430L

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: H88L

Predicted Effect

probably damaging
Transcript: ENSMUST00000212086
AA Change: H473L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000212243

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212509
AA Change: H430L

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212611
AA Change: H430L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.5708

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	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
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
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'- TGTCCTAAACACAGGTGACTCAC -3'
(R):5'- TCTCCAGCGTTTGCACATGG -3'

Sequencing Primer
(F):5'- GTGACTCACACTAGAACCTATTCTTC -3'
(R):5'- CAGTGTTTGCCTAACTTGCACAGAG -3'

Posted On

2016-02-04