Mutagenetix > Incidental Mutation

Incidental Mutation 'R6562:Kcnmb4'

522477

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

044686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6562 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116253766-116309783 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 116309089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065384 (fasta)

Gene Model

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

AlphaFold

Q9JIN6

Predicted Effect

probably null
Transcript: ENSMUST00000068233

SMART Domains

Protein: ENSMUSP00000065384
Gene: ENSMUSG00000054934

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

Predicted Effect

probably null
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: ENSMUST00000080943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000087965

SMART Domains

Protein: ENSMUSP00000085278
Gene: ENSMUSG00000054934

Domain	Start	End	E-Value	Type
Pfam:CaKB	1	110	1.6e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164271

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,970,543 (GRCm39)	K26E	probably benign	Het
Abt1	T	G	13: 23,607,758 (GRCm39)	E82A	probably damaging	Het
Actr8	A	G	14: 29,708,411 (GRCm39)		probably null	Het
Akap12	G	T	10: 4,306,141 (GRCm39)	E984*	probably null	Het
Ankrd13a	C	A	5: 114,942,453 (GRCm39)		probably benign	Het
Ankrd13c	T	A	3: 157,705,309 (GRCm39)	S411T	probably damaging	Het
Arhgef28	A	G	13: 98,124,647 (GRCm39)		probably null	Het
Arhgef3	A	T	14: 26,874,953 (GRCm39)		probably benign	Het
Atad5	T	C	11: 80,024,032 (GRCm39)	S1712P	probably benign	Het
Bbs12	A	G	3: 37,374,389 (GRCm39)	E394G	probably damaging	Het
Ccdc158	T	G	5: 92,810,581 (GRCm39)	K102N	probably damaging	Het
Ccdc169	A	G	3: 55,058,235 (GRCm39)	N89S	probably damaging	Het
Cd200l1	C	T	16: 45,264,442 (GRCm39)	E39K	probably benign	Het
Cenpu	T	C	8: 47,025,858 (GRCm39)	I132T	possibly damaging	Het
Cnrip1	G	A	11: 17,028,539 (GRCm39)	W157*	probably null	Het
Ctnnd1	A	G	2: 84,454,652 (GRCm39)	S53P	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,879,647 (GRCm39)	V969D	probably damaging	Het
Ehd2	C	A	7: 15,691,492 (GRCm39)	R280L	probably benign	Het
Entpd5	T	C	12: 84,432,974 (GRCm39)	T218A	probably damaging	Het
Fcrl2	A	C	3: 87,164,635 (GRCm39)	I297S	probably benign	Het
Frmpd2	T	A	14: 33,293,872 (GRCm39)	L1346Q	probably benign	Het
Fry	T	C	5: 150,249,614 (GRCm39)	S142P	probably damaging	Het
Gbgt1	A	T	2: 28,394,898 (GRCm39)	I179F	probably damaging	Het
Gm17067	A	T	7: 42,358,153 (GRCm39)	S116R	probably damaging	Het
Gm5565	G	T	5: 146,094,964 (GRCm39)	P261T	probably damaging	Het
Kat6a	T	C	8: 23,401,803 (GRCm39)	F391L	probably benign	Het
Krt6a	T	A	15: 101,600,094 (GRCm39)	H386L	probably benign	Het
L3mbtl1	C	T	2: 162,812,124 (GRCm39)	T723I	probably benign	Het
Lamb2	A	T	9: 108,364,207 (GRCm39)	R1049W	possibly damaging	Het
Lrmda	T	C	14: 22,648,254 (GRCm39)		probably benign	Het
Lysmd2	C	T	9: 75,542,691 (GRCm39)	T95I	unknown	Het
Ndst3	A	G	3: 123,346,181 (GRCm39)	S698P	probably damaging	Het
Nin	T	C	12: 70,102,728 (GRCm39)	D300G	probably damaging	Het
Nutf2	G	T	8: 106,602,258 (GRCm39)	D23Y	probably benign	Het
Or6c211	G	A	10: 129,506,008 (GRCm39)	P127S	probably damaging	Het
Ovgp1	A	G	3: 105,887,589 (GRCm39)	Y300C	probably damaging	Het
Pgghg	A	G	7: 140,526,506 (GRCm39)	I633V	probably benign	Het
Pik3r3	C	T	4: 116,157,006 (GRCm39)	Q496*	probably null	Het
Pkn3	G	T	2: 29,970,699 (GRCm39)		probably null	Het
Plin2	A	T	4: 86,576,832 (GRCm39)	S298T	probably benign	Het
Prdm8	T	C	5: 98,331,202 (GRCm39)	V18A	possibly damaging	Het
Rel	C	A	11: 23,707,026 (GRCm39)	G59*	probably null	Het
Siglecg	A	G	7: 43,058,481 (GRCm39)	R123G	possibly damaging	Het
Slc13a1	T	A	6: 24,150,792 (GRCm39)	I49F	probably benign	Het
Slc39a10	T	A	1: 46,874,724 (GRCm39)	T193S	probably benign	Het
Slc9a3	T	A	13: 74,303,280 (GRCm39)	V191E	probably damaging	Het
Spata31e2	T	A	1: 26,721,443 (GRCm39)	T1246S	possibly damaging	Het
Sult2b1	A	C	7: 45,391,670 (GRCm39)	S39A	probably benign	Het
Tead1	A	G	7: 112,460,650 (GRCm39)	T185A	probably benign	Het
Tmem67	A	G	4: 12,053,445 (GRCm39)		probably null	Het
Trim12c	A	T	7: 103,994,341 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,815,406 (GRCm39)	F1164Y	probably damaging	Het
Ube2d1	C	T	10: 71,098,071 (GRCm39)	D16N	probably benign	Het
Vmn2r24	A	T	6: 123,757,386 (GRCm39)	I85F	probably benign	Het
Vwde	T	A	6: 13,193,122 (GRCm39)	N406Y	possibly damaging	Het
Wdr54	A	T	6: 83,132,050 (GRCm39)		probably null	Het
Zcchc14	A	T	8: 122,330,842 (GRCm39)	N840K	probably damaging	Het
Zfp451	C	A	1: 33,801,260 (GRCm39)	S1052I	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
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
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

Predicted Primers

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

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

Posted On

2018-06-06