Mutagenetix > Incidental Mutation

Incidental Mutation 'R8991:Kcnmb4'

684417

Institutional Source

Beutler Lab

Gene Symbol

Kcnmb4

Ensembl Gene

ENSMUSG00000054934

Gene Name

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

Synonyms

Slowpoke beta 4, 2900045G12Rik

MMRRC Submission

068716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116253766-116309783 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116282238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 153 (H153L)

Ref Sequence

ENSEMBL: ENSMUSP00000065384 (fasta)

Gene Model

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

AlphaFold

Q9JIN6

Predicted Effect

probably benign
Transcript: ENSMUST00000068233
AA Change: H153L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: H153L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,232 (GRCm39)	K54I	probably damaging	Het
Ankrd34b	T	A	13: 92,575,725 (GRCm39)	I319K	probably benign	Het
Art2b	G	A	7: 101,229,590 (GRCm39)	A103V	probably damaging	Het
Atmin	T	G	8: 117,679,665 (GRCm39)	F126C	probably damaging	Het
Cc2d1b	A	T	4: 108,482,143 (GRCm39)	N139I	probably benign	Het
Cep128	T	C	12: 91,200,987 (GRCm39)	Y794C	probably damaging	Het
Cic	T	A	7: 24,988,885 (GRCm39)	V1829D	probably damaging	Het
Cnep1r1	G	A	8: 88,856,447 (GRCm39)	R99Q	unknown	Het
Cpq	G	C	15: 33,213,353 (GRCm39)	R124P	probably damaging	Het
Crtc3	A	T	7: 80,327,191 (GRCm39)	V45D	probably damaging	Het
Dchs2	T	G	3: 83,036,143 (GRCm39)	S297A	probably benign	Het
Dnah9	A	T	11: 65,777,506 (GRCm39)	S3681T	probably damaging	Het
Dock8	T	C	19: 25,165,731 (GRCm39)	Y1872H	possibly damaging	Het
Fbn2	T	A	18: 58,239,395 (GRCm39)	Q558L	probably damaging	Het
Fn1	A	G	1: 71,676,491 (GRCm39)	V580A	probably benign	Het
Fscn3	C	T	6: 28,434,472 (GRCm39)	T349I	probably benign	Het
Fsip2	T	C	2: 82,815,370 (GRCm39)	V3701A	probably benign	Het
Hectd4	T	C	5: 121,496,347 (GRCm39)	V3913A	probably benign	Het
Htt	G	A	5: 35,063,062 (GRCm39)	G2898D	probably damaging	Het
Ighv3-4	T	G	12: 114,217,266 (GRCm39)	E108D	probably benign	Het
Irx5	G	T	8: 93,087,135 (GRCm39)	E356*	probably null	Het
Kcnh6	A	G	11: 105,909,971 (GRCm39)	I499V	possibly damaging	Het
Kcnj10	T	A	1: 172,196,963 (GRCm39)	I159N	probably damaging	Het
Klhl8	T	C	5: 104,018,404 (GRCm39)	N409S	probably benign	Het
Ksr1	A	G	11: 78,936,014 (GRCm39)	S117P	probably benign	Het
Lrfn3	A	T	7: 30,059,244 (GRCm39)	V327E	probably damaging	Het
Mrc2	C	A	11: 105,229,740 (GRCm39)	H724Q	probably benign	Het
Mtf2	T	A	5: 108,248,805 (GRCm39)	F372L	probably benign	Het
Nipbl	A	T	15: 8,320,997 (GRCm39)	D2703E	probably damaging	Het
Nova1	T	C	12: 46,863,800 (GRCm39)	Y50C	unknown	Het
Ofcc1	T	A	13: 40,296,277 (GRCm39)	Y519F	probably benign	Het
Or2aj5	T	A	16: 19,424,511 (GRCm39)	K301N	probably damaging	Het
Or4f54	T	C	2: 111,123,348 (GRCm39)	I245T	probably damaging	Het
Or4f61	A	T	2: 111,922,682 (GRCm39)	D121E	probably damaging	Het
Or4p19	A	C	2: 88,242,723 (GRCm39)	M93R	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Phrf1	A	G	7: 140,823,671 (GRCm39)	D4G	unknown	Het
Ppp4r3b	A	T	11: 29,123,306 (GRCm39)	M1L	probably damaging	Het
Prmt7	A	G	8: 106,943,874 (GRCm39)		probably null	Het
Retnlg	A	G	16: 48,694,038 (GRCm39)	T65A	possibly damaging	Het
Sbf2	T	C	7: 109,911,896 (GRCm39)	N1763D	probably benign	Het
Scn7a	A	G	2: 66,514,588 (GRCm39)	F1062S	possibly damaging	Het
Scube3	A	C	17: 28,383,027 (GRCm39)	K402Q	probably damaging	Het
Skic2	T	A	17: 35,059,166 (GRCm39)	D1067V	probably damaging	Het
Slc25a22	C	A	7: 141,013,871 (GRCm39)	D30Y	probably damaging	Het
Smim17	A	T	7: 6,427,720 (GRCm39)	Q2L	possibly damaging	Het
Son	G	T	16: 91,453,366 (GRCm39)	M704I	probably benign	Het
Son	C	T	16: 91,453,608 (GRCm39)	S785F	possibly damaging	Het
Tnfrsf21	G	A	17: 43,396,299 (GRCm39)	V528M	probably benign	Het
Tnks1bp1	T	C	2: 84,894,290 (GRCm39)	S1406P	probably benign	Het
Trim21	A	T	7: 102,212,908 (GRCm39)	V130E	probably benign	Het
Try5	T	A	6: 41,289,295 (GRCm39)	I94F	probably benign	Het
Tubb4a	C	T	17: 57,388,169 (GRCm39)	V286I	probably benign	Het
Vmn1r180	T	A	7: 23,652,076 (GRCm39)	S80T	probably benign	Het
Vmn2r114	A	C	17: 23,529,286 (GRCm39)	I272S	probably damaging	Het
Vmn2r12	A	T	5: 109,234,033 (GRCm39)	Y726*	probably null	Het
Zdhhc16	T	C	19: 41,926,465 (GRCm39)	F83L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably 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
IGL02016:Kcnmb4	APN	10	116,282,367 (GRCm39)	splice site	probably benign
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
R9219:Kcnmb4	UTSW	10	116,309,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGTTCTGTATATGGCTCCC -3'
(R):5'- TTTGAGGACGAGAAGGACTCCC -3'

Sequencing Primer
(F):5'- TATGGCTCCCATCTAGTAGAGCAG -3'
(R):5'- AGGACTCCCTTTGAATACCCTGTAG -3'

Posted On

2021-10-11