Mutagenetix > Incidental Mutation

Incidental Mutation 'R6523:Kcnn1'

521498

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

044649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71294693-71315902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71299169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 448 (D448E)

Ref Sequence

ENSEMBL: ENSMUSP00000105708 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110078
AA Change: D447E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908
AA Change: D447E

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: D448E

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908
AA Change: D448E

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: D105E

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212086
AA Change: D490E

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212243

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212509
AA Change: D444E

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212611
AA Change: D447E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,160,120 (GRCm39)		probably null	Het
Alg2	A	T	4: 47,472,071 (GRCm39)	S246T	possibly damaging	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Arid4a	A	G	12: 71,114,115 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,762,553 (GRCm39)		probably null	Het
B430306N03Rik	A	G	17: 48,626,193 (GRCm39)	T129A	possibly damaging	Het
Blvrb	C	A	7: 27,165,142 (GRCm39)		probably null	Het
Ccdc175	T	C	12: 72,191,565 (GRCm39)	N337S	probably benign	Het
Ccdc28b	A	C	4: 129,514,780 (GRCm39)	F110V	probably damaging	Het
Cd200	A	G	16: 45,220,633 (GRCm39)	Y16H	probably benign	Het
Cfh	T	G	1: 140,029,445 (GRCm39)	E950A	possibly damaging	Het
Clec3a	A	T	8: 115,152,345 (GRCm39)	Y117F	probably damaging	Het
CN725425	A	G	15: 91,115,784 (GRCm39)	S9G	probably benign	Het
Coasy	T	A	11: 100,976,944 (GRCm39)	W535R	probably damaging	Het
Cox4i1	T	A	8: 121,399,480 (GRCm39)	S30R	probably benign	Het
Csnk1a1	G	A	18: 61,688,829 (GRCm39)	S3N	probably benign	Het
Dcst2	C	G	3: 89,280,808 (GRCm39)	L669V	probably benign	Het
Dnah14	A	G	1: 181,471,186 (GRCm39)	I1346V	probably benign	Het
Fbxw24	G	A	9: 109,434,048 (GRCm39)	R421*	probably null	Het
Fstl5	G	A	3: 76,443,641 (GRCm39)	V329I	probably benign	Het
Gli3	T	C	13: 15,888,235 (GRCm39)		probably null	Het
Gna11	A	T	10: 81,380,688 (GRCm39)	I25N	probably damaging	Het
Greb1	C	T	12: 16,734,374 (GRCm39)	V1539I	possibly damaging	Het
Hipk3	T	A	2: 104,269,753 (GRCm39)	T479S	possibly damaging	Het
Hspa1b	A	G	17: 35,176,167 (GRCm39)	I606T	probably benign	Het
Idnk	T	A	13: 58,311,457 (GRCm39)	F141L	probably damaging	Het
Ifit3	A	G	19: 34,565,555 (GRCm39)	N367S	probably benign	Het
Krt14	T	C	11: 100,095,923 (GRCm39)	T212A	possibly damaging	Het
Ldlr	G	A	9: 21,648,549 (GRCm39)	C285Y	probably damaging	Het
Mark3	G	A	12: 111,593,669 (GRCm39)	V234I	probably damaging	Het
Meikin	T	A	11: 54,289,327 (GRCm39)	Y233*	probably null	Het
Mtcl2	G	A	2: 156,902,263 (GRCm39)	Q251*	probably null	Het
Muc20	T	C	16: 32,613,820 (GRCm39)	D519G	possibly damaging	Het
Nalcn	T	A	14: 123,555,255 (GRCm39)	H876L	probably benign	Het
Ncaph	A	T	2: 126,947,809 (GRCm39)	I698K	probably damaging	Het
Nipal1	A	T	5: 72,824,951 (GRCm39)	I215F	probably damaging	Het
Nrde2	A	T	12: 100,100,664 (GRCm39)	D607E	possibly damaging	Het
Nt5dc2	T	C	14: 30,857,662 (GRCm39)	F217S	probably damaging	Het
Ntsr2	T	A	12: 16,706,697 (GRCm39)	S156T	probably benign	Het
Or13c9	A	T	4: 52,935,500 (GRCm39)	I261N	probably damaging	Het
Or5b110-ps1	A	C	19: 13,259,728 (GRCm39)	D231E	probably benign	Het
Or5p4	A	C	7: 107,680,762 (GRCm39)	T254P	probably benign	Het
Pfas	A	T	11: 68,881,283 (GRCm39)	I1028K	probably benign	Het
Pnpla5	C	A	15: 83,999,912 (GRCm39)	R329L	possibly damaging	Het
Pramel30	T	C	4: 144,058,218 (GRCm39)	V275A	probably benign	Het
Rhot2	A	G	17: 26,058,394 (GRCm39)	V393A	possibly damaging	Het
Rigi	T	A	4: 40,205,947 (GRCm39)	T882S	probably benign	Het
Rnase9	T	A	14: 51,276,684 (GRCm39)	Y98F	possibly damaging	Het
Sacs	C	A	14: 61,440,410 (GRCm39)	L819I	probably damaging	Het
Sall3	C	T	18: 81,016,403 (GRCm39)	M508I	possibly damaging	Het
Scube3	G	A	17: 28,381,362 (GRCm39)	C301Y	probably damaging	Het
Sgo2b	G	T	8: 64,380,538 (GRCm39)	H765N	probably benign	Het
Sh3gl1	A	T	17: 56,324,617 (GRCm39)	Y344N	possibly damaging	Het
Slc15a2	A	G	16: 36,572,683 (GRCm39)	V635A	probably benign	Het
Slc1a4	T	A	11: 20,282,114 (GRCm39)	Y40F	probably damaging	Het
Slc4a10	A	T	2: 62,117,305 (GRCm39)	K755*	probably null	Het
Slco1a5	C	T	6: 142,212,121 (GRCm39)	G38R	probably damaging	Het
Snx25	T	A	8: 46,508,892 (GRCm39)	D564V	probably damaging	Het
Spon1	T	A	7: 113,486,018 (GRCm39)	D189E	probably benign	Het
Sptbn5	T	C	2: 119,896,095 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,841,170 (GRCm39)	I317V	probably benign	Het
Stil	AAGATTTCCAG	A	4: 114,889,911 (GRCm39)		probably null	Het
Strn3	A	T	12: 51,689,881 (GRCm39)		probably null	Het
Tcaf2	A	T	6: 42,619,953 (GRCm39)	F25I	probably benign	Het
Themis	C	T	10: 28,657,894 (GRCm39)	T154I	possibly damaging	Het
Ttn	T	C	2: 76,626,390 (GRCm39)	R13176G	probably damaging	Het
Utp4	G	A	8: 107,625,095 (GRCm39)	V125M	probably damaging	Het
Vmn1r119	T	A	7: 20,745,777 (GRCm39)	M202L	possibly damaging	Het
Zfp292	G	C	4: 34,816,301 (GRCm39)	F329L	probably benign	Het
Zfp541	C	T	7: 15,829,445 (GRCm39)	P1281L	probably damaging	Het
Zfp616	A	T	11: 73,973,968 (GRCm39)	Q79L	possibly 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
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'- TGTGGATGCCTGGAATATTACTCATG -3'
(R):5'- CTCAGAAGTAAGTCTTGGGGTG -3'

Sequencing Primer
(F):5'- ACTCATGAATTTAAACTGAAGAGCC -3'
(R):5'- TCCCTAGTGGACAGAGAATGTGTC -3'

Posted On

2018-06-06