Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Kcnmb4'

551001

Institutional Source

Beutler Lab

Gene Symbol

Kcnmb4

Ensembl Gene

ENSMUSG00000054934

Gene Name

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

Synonyms

2900045G12Rik, Slowpoke beta 4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116417861-116473878 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116473259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 88 (Y88C)

Ref Sequence

ENSEMBL: ENSMUSP00000065384 (fasta)

Gene Model

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

AlphaFold

Q9JIN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068233
AA Change: Y88C

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: Y88C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Csnka2ip	C	A	16: 64,478,757	V415F	unknown	Het
Dmp1	A	T	5: 104,211,863	D135V	probably damaging	Het
Dtna	T	C	18: 23,653,379		probably null	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587		probably null	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	Het

Other mutations in Kcnmb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Kcnmb4	APN	10	116473346	missense	probably benign	0.34
IGL02016:Kcnmb4	APN	10	116446462	splice site	probably benign
R1499:Kcnmb4	UTSW	10	116473298	missense	possibly damaging	0.52
R4355:Kcnmb4	UTSW	10	116473284	missense	possibly damaging	0.57
R4361:Kcnmb4	UTSW	10	116473505	missense	probably benign	0.13
R5058:Kcnmb4	UTSW	10	116463928	intron	probably benign
R5074:Kcnmb4	UTSW	10	116473197	missense	probably benign	0.00
R5463:Kcnmb4	UTSW	10	116473505	missense	probably benign	0.13
R6562:Kcnmb4	UTSW	10	116473184	critical splice donor site	probably null
R6883:Kcnmb4	UTSW	10	116473343	missense	probably benign	0.00
R7486:Kcnmb4	UTSW	10	116418275	missense	probably benign	0.13
R8284:Kcnmb4	UTSW	10	116418253	missense	probably damaging	1.00
R8324:Kcnmb4	UTSW	10	116418314	missense	probably damaging	1.00
R8377:Kcnmb4	UTSW	10	116446385	missense	probably benign	0.35
R8856:Kcnmb4	UTSW	10	116446394	missense	possibly damaging	0.60
R8955:Kcnmb4	UTSW	10	116473476	nonsense	probably null
R8991:Kcnmb4	UTSW	10	116446333	missense	probably benign	0.00
R9219:Kcnmb4	UTSW	10	116473467	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTTTGCAGAGAGGCTCG -3'
(R):5'- AGGGTGTCTTACGAGTACACG -3'

Sequencing Primer
(F):5'- TTTGCAGAGAGGCTCGCGTAC -3'
(R):5'- CCGAAGACAAGAGCATCCGG -3'

Posted On

2019-05-15