Mutagenetix > Incidental Mutation

Incidental Mutation 'R8376:Kcnn4'

646677

Institutional Source

Beutler Lab

Gene Symbol

Kcnn4

Ensembl Gene

ENSMUSG00000054342

Gene Name

potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4

Synonyms

mIKCa1, IKCa1, KCa3.1, SK4, IK1

MMRRC Submission

067744-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R8376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24069750-24084635 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24077051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 200 (T200K)

Ref Sequence

ENSEMBL: ENSMUSP00000133065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171904] [ENSMUST00000205428] [ENSMUST00000205626]

AlphaFold

O89109

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171904
AA Change: T200K

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133065
Gene: ENSMUSG00000054342
AA Change: T200K

Domain	Start	End	E-Value	Type
Pfam:SK_channel	11	124	1.7e-41	PFAM
low complexity region	143	160	N/A	INTRINSIC
Pfam:Ion_trans_2	209	289	2.6e-16	PFAM
CaMBD	302	375	1.85e-32	SMART
low complexity region	411	424	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205428
AA Change: T200K

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000205626

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice have increased parotid gland weight and both sexes have impaired volume regulation in erythrocytes and T lymphocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	C	8: 25,409,936 (GRCm39)	I173S	possibly damaging	Het
Ahctf1	T	C	1: 179,610,520 (GRCm39)	D599G	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Atp12a	G	T	14: 56,612,083 (GRCm39)		probably null	Het
Birc6	C	T	17: 74,896,635 (GRCm39)	T1027M	probably benign	Het
Bmpr2	G	A	1: 59,906,515 (GRCm39)	R536H	probably damaging	Het
Brms1l	C	A	12: 55,888,414 (GRCm39)	N67K	probably benign	Het
Cachd1	G	A	4: 100,832,073 (GRCm39)	R745H	probably damaging	Het
Cacnb4	G	A	2: 52,354,665 (GRCm39)	Q238*	probably null	Het
Cdc42	G	A	4: 137,056,205 (GRCm39)	T102I	probably benign	Het
Cfhr1	A	C	1: 139,475,549 (GRCm39)	C307W	unknown	Het
Ddb1	G	A	19: 10,596,669 (GRCm39)	V463M	probably damaging	Het
Dhx30	G	A	9: 109,917,707 (GRCm39)	R365C	probably benign	Het
Dnah1	A	G	14: 31,023,303 (GRCm39)	F1005L	probably damaging	Het
Elp4	A	G	2: 105,672,653 (GRCm39)	V144A	probably benign	Het
Enpp2	T	A	15: 54,773,491 (GRCm39)	N77Y	probably damaging	Het
Fsip1	C	T	2: 118,063,519 (GRCm39)	V317I	possibly damaging	Het
Gc	G	A	5: 89,586,118 (GRCm39)	Q341*	probably null	Het
Gpt2	A	T	8: 86,219,694 (GRCm39)	I47F	probably benign	Het
Ino80	A	T	2: 119,272,968 (GRCm39)	S503T	probably benign	Het
Krtap4-7	A	G	11: 99,534,753 (GRCm39)	S37P	unknown	Het
Lrrc4b	T	C	7: 44,112,018 (GRCm39)	V630A	probably benign	Het
Man2a2	C	T	7: 80,010,671 (GRCm39)	W773*	probably null	Het
Mgrn1	T	A	16: 4,733,630 (GRCm39)	L192Q	probably damaging	Het
Mtx1	A	G	3: 89,121,478 (GRCm39)	V52A	probably benign	Het
Myc	A	T	15: 61,859,395 (GRCm39)	N24Y	possibly damaging	Het
Nbea	G	A	3: 55,551,076 (GRCm39)	S2696L	possibly damaging	Het
Nox4	A	G	7: 87,023,592 (GRCm39)	N493D	probably damaging	Het
Or52w1	C	A	7: 105,017,847 (GRCm39)	P105T	probably benign	Het
Osbpl10	G	A	9: 115,052,661 (GRCm39)	G403D	probably damaging	Het
Pdcd6ip	A	T	9: 113,518,684 (GRCm39)	L192Q	probably damaging	Het
Pde3a	A	G	6: 141,426,947 (GRCm39)	I703V	possibly damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,944,071 (GRCm39)	S36P	probably damaging	Het
Plk5	T	C	10: 80,196,179 (GRCm39)	F279L	probably damaging	Het
Prl7a1	T	G	13: 27,821,638 (GRCm39)	E99D	probably benign	Het
Rnf4	C	T	5: 34,508,701 (GRCm39)	R188W	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGAGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scel	A	G	14: 103,809,451 (GRCm39)	S264G	probably benign	Het
Sdk1	A	G	5: 142,144,376 (GRCm39)	Q1712R	possibly damaging	Het
Slc15a1	A	G	14: 121,718,115 (GRCm39)	Y255H	probably benign	Het
Syne1	C	T	10: 4,993,615 (GRCm39)	G525D	probably benign	Het
Taldo1	T	C	7: 140,981,788 (GRCm39)	V214A	probably damaging	Het
Tbc1d12	A	G	19: 38,889,853 (GRCm39)	T428A	probably damaging	Het
Tlr6	T	C	5: 65,112,455 (GRCm39)	K151E	probably benign	Het
Ubr2	T	A	17: 47,253,721 (GRCm39)	D1468V	probably benign	Het
Ubtf	A	C	11: 102,199,737 (GRCm39)	Y463D	probably damaging	Het
Uroc1	A	T	6: 90,314,697 (GRCm39)	M106L	probably damaging	Het
Vmn1r55	T	A	7: 5,149,869 (GRCm39)	I185L	probably benign	Het
Vmn2r93	T	A	17: 18,525,230 (GRCm39)	V296D	probably damaging	Het
Zfp65	A	C	13: 67,857,037 (GRCm39)	Y81D	probably damaging	Het
Zw10	A	T	9: 48,988,783 (GRCm39)	Y683F	possibly damaging	Het

Other mutations in Kcnn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Kcnn4	APN	7	24,081,128 (GRCm39)	missense	probably benign	0.05
IGL02958:Kcnn4	APN	7	24,074,170 (GRCm39)	missense	probably benign	0.00
ivanhoe	UTSW	7	24,074,167 (GRCm39)	missense	probably damaging	1.00
longbow	UTSW	7	24,078,680 (GRCm39)	missense	possibly damaging	0.88
R0009:Kcnn4	UTSW	7	24,078,680 (GRCm39)	missense	possibly damaging	0.88
R1706:Kcnn4	UTSW	7	24,074,167 (GRCm39)	missense	probably damaging	1.00
R4300:Kcnn4	UTSW	7	24,077,029 (GRCm39)	missense	probably benign	0.21
R4402:Kcnn4	UTSW	7	24,076,867 (GRCm39)	missense	probably benign	0.12
R5455:Kcnn4	UTSW	7	24,076,978 (GRCm39)	missense	probably damaging	1.00
R5811:Kcnn4	UTSW	7	24,077,030 (GRCm39)	missense	probably damaging	0.99
R6319:Kcnn4	UTSW	7	24,081,165 (GRCm39)	missense	possibly damaging	0.89
R8098:Kcnn4	UTSW	7	24,083,504 (GRCm39)	missense	probably damaging	0.99
R8322:Kcnn4	UTSW	7	24,083,545 (GRCm39)	missense	probably benign
R8871:Kcnn4	UTSW	7	24,083,500 (GRCm39)	missense	possibly damaging	0.94
R9063:Kcnn4	UTSW	7	24,076,934 (GRCm39)	missense	probably damaging	1.00
R9519:Kcnn4	UTSW	7	24,081,941 (GRCm39)	missense	probably damaging	1.00
R9608:Kcnn4	UTSW	7	24,083,503 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATGACTGACAACGGGC -3'
(R):5'- ATGGAAAGTGTGAGCCTGC -3'

Sequencing Primer
(F):5'- AGGTGGCGCAGATCCTG -3'
(R):5'- AAGTGTGAGCCTGCCCTGATG -3'

Posted On

2020-09-02