Mutagenetix > Incidental Mutation

Incidental Mutation 'R8955:Kcnmb4'

681947

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

068791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8955 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

116253766-116309783 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116309381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 16 (K16*)

Ref Sequence

ENSEMBL: ENSMUSP00000065384 (fasta)

Gene Model

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

AlphaFold

Q9JIN6

Predicted Effect

probably null
Transcript: ENSMUST00000068233
AA Change: K16*

SMART Domains

Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934
AA Change: K16*

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: 98.7%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,576,554 (GRCm39)	V1003I	possibly damaging	Het
Adgra3	T	A	5: 50,118,731 (GRCm39)	Y939F	probably benign	Het
Adra2b	T	C	2: 127,205,504 (GRCm39)	V2A	probably benign	Het
Aga	T	A	8: 53,974,164 (GRCm39)	Y296N	possibly damaging	Het
Apc	A	G	18: 34,401,370 (GRCm39)	Q52R	probably damaging	Het
Arfgef1	A	T	1: 10,270,062 (GRCm39)	S362R	probably benign	Het
Arhgef7	C	T	8: 11,808,451 (GRCm39)		probably benign	Het
Bmp5	A	T	9: 75,805,835 (GRCm39)	M446L	probably damaging	Het
Carmil3	C	T	14: 55,733,534 (GRCm39)	T350I	probably damaging	Het
Cd44	T	A	2: 102,683,363 (GRCm39)	T224S	probably damaging	Het
Cep112	A	T	11: 108,643,260 (GRCm39)	I7F	possibly damaging	Het
Chrna2	G	A	14: 66,379,681 (GRCm39)	A7T	probably benign	Het
Cldn16	G	A	16: 26,301,270 (GRCm39)	V193I	probably benign	Het
Clec4a3	G	A	6: 122,943,479 (GRCm39)	E100K	possibly damaging	Het
Cntln	C	T	4: 84,986,110 (GRCm39)	T1026I	possibly damaging	Het
Cyp4v3	T	A	8: 45,761,564 (GRCm39)	I420F	probably benign	Het
Dcbld2	G	A	16: 58,271,125 (GRCm39)	A301T		Het
Dnah1	A	T	14: 31,007,950 (GRCm39)	D2152E	probably benign	Het
Dpy19l4	A	G	4: 11,290,195 (GRCm39)	V179A	probably benign	Het
Dusp4	T	A	8: 35,284,462 (GRCm39)	I259N	probably damaging	Het
Enpp1	T	A	10: 24,544,926 (GRCm39)	I318F	probably benign	Het
Entpd6	T	C	2: 150,595,005 (GRCm39)	V15A	possibly damaging	Het
Epb41l1	C	G	2: 156,363,923 (GRCm39)	Q811E	probably benign	Het
Epb41l5	T	C	1: 119,570,292 (GRCm39)	H32R	probably damaging	Het
Fam135b	C	T	15: 71,334,063 (GRCm39)	V1044I	possibly damaging	Het
Fat4	A	T	3: 39,037,778 (GRCm39)	H3810L	probably benign	Het
Fbxw28	T	A	9: 109,167,857 (GRCm39)		probably null	Het
Flnb	T	G	14: 7,892,874 (GRCm38)	V648G	probably damaging	Het
Flnb	T	A	14: 7,904,688 (GRCm38)	Y1030*	probably null	Het
Fndc3a	T	C	14: 72,794,410 (GRCm39)	T787A	probably benign	Het
Gli2	T	A	1: 118,783,187 (GRCm39)	H106L	probably damaging	Het
Gm10283	T	A	8: 60,954,390 (GRCm39)		probably null	Het
Gm3336	C	T	8: 71,174,545 (GRCm39)	R67*	probably null	Het
Gsr	T	G	8: 34,183,936 (GRCm39)	I399M	possibly damaging	Het
Gtf2ird2	T	A	5: 134,245,596 (GRCm39)	M618K	probably damaging	Het
Gtf3c3	T	A	1: 54,462,722 (GRCm39)	D347V	probably benign	Het
Hspa12a	T	C	19: 58,788,058 (GRCm39)	Y588C	probably damaging	Het
Il20ra	A	G	10: 19,635,160 (GRCm39)	E467G	possibly damaging	Het
Inf2	A	G	12: 112,576,998 (GRCm39)	I991V	unknown	Het
Irag2	A	T	6: 145,117,390 (GRCm39)	M376L	probably benign	Het
Irx6	T	C	8: 93,405,040 (GRCm39)	C303R	probably damaging	Het
Kirrel3	T	C	9: 34,855,738 (GRCm39)	L86P	probably damaging	Het
Lipo5	A	C	19: 33,450,530 (GRCm39)	F21V		Het
Lrrc31	T	A	3: 30,733,267 (GRCm39)	R482S	probably benign	Het
Lrrc3b	C	T	14: 15,358,159 (GRCm38)	C149Y	probably damaging	Het
Lrrk1	A	G	7: 65,919,573 (GRCm39)	M446T	probably benign	Het
Macroh2a2	A	T	10: 61,593,610 (GRCm39)	I22N	probably damaging	Het
Mettl14	C	T	3: 123,167,693 (GRCm39)	D222N	probably benign	Het
Mfsd4b3-ps	G	A	10: 39,824,072 (GRCm39)	H63Y	probably benign	Het
Myo16	T	C	8: 10,426,175 (GRCm39)	W311R	probably damaging	Het
Nccrp1	A	T	7: 28,245,628 (GRCm39)	N151K	probably benign	Het
Obsl1	T	C	1: 75,480,493 (GRCm39)	D377G	probably damaging	Het
Or5b97	T	A	19: 12,878,578 (GRCm39)	T189S	probably benign	Het
Or5p80	T	A	7: 108,229,506 (GRCm39)	C102*	probably null	Het
Or7c19	T	A	8: 85,957,913 (GRCm39)	I263N	probably benign	Het
Or7c70	G	T	10: 78,683,576 (GRCm39)	P58T	probably damaging	Het
Pigb	T	C	9: 72,945,983 (GRCm39)	N63S	probably damaging	Het
Plch2	T	C	4: 155,077,023 (GRCm39)	E577G	probably benign	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Psd3	T	C	8: 68,416,461 (GRCm39)	I479V	probably benign	Het
Ralgapb	C	A	2: 158,279,264 (GRCm39)	P117T	probably benign	Het
Ralgapb	C	G	2: 158,337,389 (GRCm39)	T1116R	probably damaging	Het
Rpap2	T	A	5: 107,768,361 (GRCm39)	S400T	possibly damaging	Het
Rpgrip1l	C	A	8: 92,007,456 (GRCm39)	W378L	possibly damaging	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Rps5	T	C	7: 12,659,440 (GRCm39)	M77T	possibly damaging	Het
Scaf11	A	G	15: 96,318,371 (GRCm39)	S398P	probably damaging	Het
Sdf2	T	A	11: 78,145,763 (GRCm39)	D153E	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc12a9	T	C	5: 137,329,270 (GRCm39)	N128S	probably damaging	Het
Slc25a32	C	A	15: 38,960,946 (GRCm39)	G246C	probably damaging	Het
Slc38a4	C	T	15: 96,914,662 (GRCm39)	A64T	probably benign	Het
Slit3	T	C	11: 35,589,207 (GRCm39)	V1254A	probably damaging	Het
Slx4	T	C	16: 3,808,111 (GRCm39)	K481R	probably benign	Het
Tcea1	A	G	1: 4,959,732 (GRCm39)	T136A	probably benign	Het
Thra	A	G	11: 98,644,449 (GRCm39)	D13G	possibly damaging	Het
Tmed9	G	A	13: 55,744,775 (GRCm39)	S227N	probably benign	Het
Trim80	C	A	11: 115,331,538 (GRCm39)	T20K	probably benign	Het
Trmt61a	G	T	12: 111,649,256 (GRCm39)	V276L	probably benign	Het
Trpc4ap	T	C	2: 155,508,171 (GRCm39)	D160G	possibly damaging	Het
Ubr5	C	T	15: 38,029,825 (GRCm39)	E467K		Het
Vars2	C	A	17: 35,972,541 (GRCm39)	G26W	probably damaging	Het
Vmn1r226	G	T	17: 20,908,287 (GRCm39)	R173L	possibly damaging	Het
Vmn1r29	G	T	6: 58,284,284 (GRCm39)	M1I	probably null	Het
Vmn2r3	G	T	3: 64,168,803 (GRCm39)	P578Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,049,571 (GRCm39)	I726N	possibly damaging	Het
Zfp39	A	T	11: 58,780,946 (GRCm39)	Y605*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGGTGAAGGTGCACTCG -3'
(R):5'- AGGATTCCGAGAGCAGCTC -3'

Sequencing Primer
(F):5'- TGAAGGTGCACTCGAACAC -3'
(R):5'- AGGAGCAGCCTCGCTCAAC -3'

Posted On

2021-08-31