Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00433:Camkmt'

5735

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camkmt

Ensembl Gene

ENSMUSG00000071037

Gene Name

calmodulin-lysine N-methyltransferase

Synonyms

1700106N22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00433

Quality Score

Status

Chromosome

Chromosomal Location

85397989-85766017 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 85404094 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

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	A	15: 94,292,522 (GRCm39)	A196V	probably benign	Het
BC024139	A	G	15: 76,009,300 (GRCm39)	V238A	probably benign	Het
Bfar	G	A	16: 13,516,827 (GRCm39)	D350N	probably benign	Het
C4b	A	T	17: 34,961,015 (GRCm39)	F217Y	possibly damaging	Het
Camk1g	T	C	1: 193,029,657 (GRCm39)		probably benign	Het
Cass4	T	C	2: 172,258,170 (GRCm39)	L56P	probably damaging	Het
Ccs	A	G	19: 4,875,636 (GRCm39)	I243T	possibly damaging	Het
Cds2	T	C	2: 132,139,213 (GRCm39)	V152A	probably damaging	Het
Chd1l	T	C	3: 97,497,921 (GRCm39)	N307D	probably damaging	Het
Cmtm2b	T	C	8: 105,057,078 (GRCm39)	I146T	possibly damaging	Het
Cntnap3	T	C	13: 64,920,545 (GRCm39)	Y608C	probably damaging	Het
Cog5	A	G	12: 31,735,703 (GRCm39)	R157G	probably damaging	Het
Csmd1	A	C	8: 16,281,387 (GRCm39)	F713V	probably damaging	Het
Csrp3	T	C	7: 48,480,440 (GRCm39)	N175D	probably benign	Het
Exoc4	A	G	6: 33,273,723 (GRCm39)	D176G	probably damaging	Het
Fbxo10	T	C	4: 45,058,684 (GRCm39)	D351G	probably damaging	Het
Gm12185	A	T	11: 48,798,049 (GRCm39)	S815T	probably benign	Het
Gpld1	A	G	13: 25,170,905 (GRCm39)		probably benign	Het
Hspa2	T	C	12: 76,453,123 (GRCm39)	C606R	possibly damaging	Het
Leo1	C	T	9: 75,357,762 (GRCm39)		probably benign	Het
Mta3	C	T	17: 84,015,861 (GRCm39)	P21L	probably damaging	Het
Pkn1	T	C	8: 84,407,635 (GRCm39)	E471G	probably damaging	Het
Postn	C	T	3: 54,281,149 (GRCm39)	R425C	probably damaging	Het
Reln	A	G	5: 22,250,007 (GRCm39)	L676P	probably damaging	Het
Sin3a	G	A	9: 57,005,185 (GRCm39)	V362M	probably damaging	Het
Slc6a7	C	T	18: 61,134,363 (GRCm39)		probably null	Het
Smc6	A	T	12: 11,349,264 (GRCm39)	D749V	possibly damaging	Het
Smg5	C	T	3: 88,258,735 (GRCm39)	Q569*	probably null	Het
Sspo	G	A	6: 48,466,970 (GRCm39)	C4130Y	probably damaging	Het
Tlcd3a	T	C	11: 76,098,817 (GRCm39)	F164L	probably damaging	Het
Tnn	A	T	1: 159,925,776 (GRCm39)		probably benign	Het
Tomt	C	T	7: 101,551,393 (GRCm39)	R29H	probably benign	Het
Uggt2	A	T	14: 119,250,899 (GRCm39)	D1199E	probably benign	Het
Usp33	A	G	3: 152,079,046 (GRCm39)	K433E	probably benign	Het
Vmn2r89	A	G	14: 51,692,422 (GRCm39)	Y75C	probably damaging	Het
Wnt7a	C	T	6: 91,342,973 (GRCm39)	G303D	probably damaging	Het

Other mutations in Camkmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2878:Camkmt	UTSW	17	85,738,979 (GRCm39)	splice site	probably benign
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

Posted On

2012-04-20