Mutagenetix > Incidental Mutation

Incidental Mutation 'R2878:Camkmt'

260204

Institutional Source

Beutler Lab

Gene Symbol

Camkmt

Ensembl Gene

ENSMUSG00000071037

Gene Name

calmodulin-lysine N-methyltransferase

Synonyms

1700106N22Rik

MMRRC Submission

040466-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85397989-85766017 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 85738979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095188]

AlphaFold

Q3U2J5

Predicted Effect

probably benign
Transcript: ENSMUST00000095188

SMART Domains

Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
low complexity region	39	53	N/A	INTRINSIC
Pfam:Methyltransf_16	110	278	7.7e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, reduced muscle strength and altered somatosensory development and brain function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,570,817 (GRCm39)	F404L	probably benign	Het
Akr1c20	G	A	13: 4,557,774 (GRCm39)	T251M	probably damaging	Het
Amph	G	A	13: 19,288,437 (GRCm39)	V309I	possibly damaging	Het
Ano2	T	G	6: 125,840,481 (GRCm39)	F384C	probably damaging	Het
Aplf	G	A	6: 87,645,409 (GRCm39)	R32*	probably null	Het
Arhgef18	A	G	8: 3,482,759 (GRCm39)	M155V	probably benign	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Capn2	T	A	1: 182,344,798 (GRCm39)	E41V	probably benign	Het
Cd53	T	C	3: 106,674,732 (GRCm39)	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dact2	A	T	17: 14,416,176 (GRCm39)	S675T	probably damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eml4	T	A	17: 83,717,603 (GRCm39)	H58Q	probably benign	Het
F13b	T	C	1: 139,429,485 (GRCm39)	M1T	probably null	Het
Fam83b	A	G	9: 76,398,092 (GRCm39)	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Fscb	A	T	12: 64,519,348 (GRCm39)	V706E	unknown	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,727,805 (GRCm39)		probably benign	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Map3k19	T	A	1: 127,751,530 (GRCm39)	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,482,954 (GRCm39)	S588G	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,818,776 (GRCm39)	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,295,880 (GRCm39)	R158H	possibly damaging	Het
Obscn	T	C	11: 58,947,014 (GRCm39)	E4337G	possibly damaging	Het
Or5b106	A	G	19: 13,123,771 (GRCm39)	L84P	probably benign	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rbm6	T	C	9: 107,729,649 (GRCm39)	E333G	probably damaging	Het
Rem2	A	G	14: 54,713,819 (GRCm39)	T31A	possibly damaging	Het
Ric1	A	G	19: 29,579,730 (GRCm39)	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,418,362 (GRCm39)	S917P	probably damaging	Het
Scn2a	G	A	2: 65,518,715 (GRCm39)	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,313,264 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,419 (GRCm39)	E714*	probably null	Het
Slc15a1	T	A	14: 121,703,345 (GRCm39)	K545N	probably benign	Het
Slc1a2	T	A	2: 102,591,512 (GRCm39)	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,997,143 (GRCm39)	S70P	probably damaging	Het
Spopfm1	G	T	3: 94,173,787 (GRCm39)	C265F	possibly damaging	Het
Taf1a	A	G	1: 183,179,173 (GRCm39)	E117G	probably damaging	Het
Trem2	A	G	17: 48,658,141 (GRCm39)	D135G	probably benign	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,710,735 (GRCm39)		probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Wdr45	C	T	X: 7,593,611 (GRCm39)	P271S	probably damaging	Het
Zfp410	A	C	12: 84,378,411 (GRCm39)	N245T	probably damaging	Het

Other mutations in Camkmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Camkmt	APN	17	85,404,094 (GRCm39)	splice site	probably benign
IGL00786:Camkmt	APN	17	85,403,919 (GRCm39)	missense	probably damaging	0.99
IGL00840:Camkmt	APN	17	85,765,551 (GRCm39)	nonsense	probably null
IGL02604:Camkmt	APN	17	85,404,053 (GRCm39)	missense	possibly damaging	0.74
IGL02809:Camkmt	APN	17	85,702,076 (GRCm39)	missense	probably damaging	1.00
R0465:Camkmt	UTSW	17	85,738,950 (GRCm39)	missense	probably damaging	0.99
R0537:Camkmt	UTSW	17	85,702,087 (GRCm39)	missense	probably benign	0.01
R1573:Camkmt	UTSW	17	85,403,958 (GRCm39)	missense	probably damaging	0.98
R2442:Camkmt	UTSW	17	85,398,203 (GRCm39)	missense	possibly damaging	0.51
R5121:Camkmt	UTSW	17	85,404,009 (GRCm39)	missense	probably benign	0.00
R5174:Camkmt	UTSW	17	85,759,665 (GRCm39)	missense	probably benign
R6006:Camkmt	UTSW	17	85,759,666 (GRCm39)	missense	possibly damaging	0.71
R6587:Camkmt	UTSW	17	85,421,243 (GRCm39)	missense	possibly damaging	0.74
R6726:Camkmt	UTSW	17	85,702,037 (GRCm39)	missense	probably damaging	0.98
R7301:Camkmt	UTSW	17	85,738,921 (GRCm39)	missense	probably benign	0.10
R7523:Camkmt	UTSW	17	85,699,056 (GRCm39)	missense	probably benign	0.01
R7911:Camkmt	UTSW	17	85,759,866 (GRCm39)	splice site	probably null
R8341:Camkmt	UTSW	17	85,747,008 (GRCm39)	missense	probably damaging	1.00
R8691:Camkmt	UTSW	17	85,421,260 (GRCm39)	missense	probably damaging	1.00
R8710:Camkmt	UTSW	17	85,421,277 (GRCm39)	critical splice donor site	probably benign
R9049:Camkmt	UTSW	17	85,709,912 (GRCm39)	missense	possibly damaging	0.68
R9119:Camkmt	UTSW	17	85,403,988 (GRCm39)	missense	probably damaging	1.00
R9652:Camkmt	UTSW	17	85,759,713 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TAGAAGACAGCTACATCCTAGGG -3'
(R):5'- ACCTCCTAGCTGTCACATGG -3'

Sequencing Primer
(F):5'- CCTTTTAAATAATTCCAAGTGCCAC -3'
(R):5'- CTCCTAGCTGTCACATGGAGATG -3'

Posted On

2015-01-23