Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02016:Kcnmb4'

183775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnmb4

Ensembl Gene

ENSMUSG00000054934

Gene Name

potassium large conductance calcium-activated channel, subfamily M, beta member 4

Synonyms

Slowpoke beta 4, 2900045G12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02016

Quality Score

Status

Chromosome

Chromosomal Location

116253766-116309783 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 116282367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068233]

AlphaFold

Q9JIN6

Predicted Effect

probably benign
Transcript: ENSMUST00000068233

SMART Domains

Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934

Domain	Start	End	E-Value	Type
Pfam:CaKB	8	203	2.7e-78	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164271

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [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
1810024B03Rik	C	A	2: 127,028,875 (GRCm39)	G108V	probably damaging	Het
A2ml1	T	C	6: 128,535,298 (GRCm39)	E804G	probably damaging	Het
Abcg4	G	A	9: 44,198,647 (GRCm39)	T35M	probably damaging	Het
Acad9	A	T	3: 36,142,635 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,545,572 (GRCm39)	D5571G	probably damaging	Het
App	T	A	16: 84,853,409 (GRCm39)	D223V	unknown	Het
Arhgap30	A	G	1: 171,235,315 (GRCm39)	E563G	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,822 (GRCm39)	V192D	probably damaging	Het
Atr	G	A	9: 95,809,228 (GRCm39)	V1969I	probably benign	Het
Bean1	T	C	8: 104,937,550 (GRCm39)	L43S	possibly damaging	Het
Cand1	A	G	10: 119,048,473 (GRCm39)	V436A	probably damaging	Het
Card6	T	C	15: 5,137,738 (GRCm39)	I39V	probably damaging	Het
Ccdc73	A	G	2: 104,805,961 (GRCm39)	T300A	probably benign	Het
Ccdc88c	T	C	12: 100,907,466 (GRCm39)	T962A	possibly damaging	Het
Chd6	G	T	2: 160,825,598 (GRCm39)	L1169I	probably damaging	Het
Chrna7	A	T	7: 62,753,583 (GRCm39)	V312E	probably damaging	Het
Dna2	A	G	10: 62,796,191 (GRCm39)	N540S	probably benign	Het
Elavl2	T	C	4: 91,149,172 (GRCm39)	E209G	probably damaging	Het
Elmo2	A	G	2: 165,136,932 (GRCm39)		probably null	Het
Fto	A	T	8: 92,393,034 (GRCm39)	R494*	probably null	Het
Garre1	A	G	7: 33,938,526 (GRCm39)	M791T	possibly damaging	Het
Gm9966	A	T	7: 95,608,014 (GRCm39)	T112S	unknown	Het
Gtf3c1	A	C	7: 125,267,211 (GRCm39)	I940S	probably damaging	Het
Hecw2	C	A	1: 53,870,702 (GRCm39)	Q1426H	possibly damaging	Het
Iars2	A	C	1: 185,035,503 (GRCm39)	L579R	probably damaging	Het
Ifih1	A	C	2: 62,437,328 (GRCm39)	M537R	probably benign	Het
Large2	A	G	2: 92,199,888 (GRCm39)	V175A	possibly damaging	Het
Mad2l1bp	A	G	17: 46,464,428 (GRCm39)		probably benign	Het
Muc20	A	T	16: 32,617,722 (GRCm39)	F14Y	possibly damaging	Het
Myom2	A	G	8: 15,175,195 (GRCm39)	E1258G	probably benign	Het
Or8k28	A	T	2: 86,285,841 (GRCm39)	M258K	probably damaging	Het
Parp1	A	T	1: 180,426,516 (GRCm39)		probably null	Het
Pramel22	T	A	4: 143,381,889 (GRCm39)	E269V	possibly damaging	Het
Prkra	A	T	2: 76,473,653 (GRCm39)		probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scd1	C	T	19: 44,388,746 (GRCm39)	G235S	probably benign	Het
Sdk1	A	G	5: 142,020,184 (GRCm39)	H654R	possibly damaging	Het
Sesn3	A	G	9: 14,231,633 (GRCm39)	Y188C	probably damaging	Het
Slc26a4	T	C	12: 31,585,666 (GRCm39)	M461V	probably damaging	Het
Slc28a2	A	G	2: 122,285,822 (GRCm39)	I439V	probably benign	Het
Smc5	T	A	19: 23,251,076 (GRCm39)	N36I	probably benign	Het
Smurf2	A	G	11: 106,713,504 (GRCm39)	F745S	probably damaging	Het
Spata22	A	G	11: 73,226,857 (GRCm39)	N65S	possibly damaging	Het
Tanc1	A	G	2: 59,673,934 (GRCm39)	T1680A	probably benign	Het
Tnxb	G	A	17: 34,891,249 (GRCm39)	V531M	probably damaging	Het
Trpm3	T	G	19: 22,879,433 (GRCm39)	Y727*	probably null	Het
Tssk1	A	T	16: 17,712,758 (GRCm39)	Y181F	probably damaging	Het
Ucp3	T	A	7: 100,129,766 (GRCm39)	V136E	probably damaging	Het
Uqcrfs1	A	C	13: 30,729,097 (GRCm39)	V45G	probably benign	Het
Uvrag	A	G	7: 98,748,649 (GRCm39)	I101T	probably benign	Het
Vmn1r206	A	T	13: 22,804,334 (GRCm39)	L291Q	probably damaging	Het
Wnk2	T	A	13: 49,210,381 (GRCm39)	I1813F	probably damaging	Het
Zbtb3	T	A	19: 8,780,579 (GRCm39)	V64E	probably damaging	Het
Zeb2	A	G	2: 44,878,886 (GRCm39)	I1115T	possibly damaging	Het
Zfp280b	C	T	10: 75,874,945 (GRCm39)	L275F	possibly damaging	Het

Other mutations in Kcnmb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Kcnmb4	APN	10	116,309,251 (GRCm39)	missense	probably benign	0.34
R1499:Kcnmb4	UTSW	10	116,309,203 (GRCm39)	missense	possibly damaging	0.52
R4355:Kcnmb4	UTSW	10	116,309,189 (GRCm39)	missense	possibly damaging	0.57
R4361:Kcnmb4	UTSW	10	116,309,410 (GRCm39)	missense	probably benign	0.13
R5058:Kcnmb4	UTSW	10	116,299,833 (GRCm39)	intron	probably benign
R5074:Kcnmb4	UTSW	10	116,309,102 (GRCm39)	missense	probably benign	0.00
R5463:Kcnmb4	UTSW	10	116,309,410 (GRCm39)	missense	probably benign	0.13
R6562:Kcnmb4	UTSW	10	116,309,089 (GRCm39)	critical splice donor site	probably null
R6883:Kcnmb4	UTSW	10	116,309,248 (GRCm39)	missense	probably benign	0.00
R7103:Kcnmb4	UTSW	10	116,309,164 (GRCm39)	missense	possibly damaging	0.94
R7486:Kcnmb4	UTSW	10	116,254,180 (GRCm39)	missense	probably benign	0.13
R8284:Kcnmb4	UTSW	10	116,254,158 (GRCm39)	missense	probably damaging	1.00
R8324:Kcnmb4	UTSW	10	116,254,219 (GRCm39)	missense	probably damaging	1.00
R8377:Kcnmb4	UTSW	10	116,282,290 (GRCm39)	missense	probably benign	0.35
R8856:Kcnmb4	UTSW	10	116,282,299 (GRCm39)	missense	possibly damaging	0.60
R8955:Kcnmb4	UTSW	10	116,309,381 (GRCm39)	nonsense	probably null
R8991:Kcnmb4	UTSW	10	116,282,238 (GRCm39)	missense	probably benign	0.00
R9219:Kcnmb4	UTSW	10	116,309,372 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07