Mutagenetix > Incidental Mutation

Incidental Mutation 'R6726:Camkmt'

529887

Institutional Source

Beutler Lab

Gene Symbol

Camkmt

Ensembl Gene

ENSMUSG00000071037

Gene Name

calmodulin-lysine N-methyltransferase

Synonyms

1700106N22Rik

MMRRC Submission

044844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85397989-85766017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85702037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 167 (I167N)

Ref Sequence

ENSEMBL: ENSMUSP00000092811 (fasta)

Gene Model

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

AlphaFold

Q3U2J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000095188
AA Change: I167N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: I167N

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

0.3656

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Arfgef2	T	A	2: 166,735,540 (GRCm39)		probably null	Het
Arsk	T	C	13: 76,222,907 (GRCm39)	Y230C	probably damaging	Het
Atf7ip	G	A	6: 136,559,389 (GRCm39)	V737M	probably damaging	Het
Atp6v1e1	A	T	6: 120,781,011 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,557,260 (GRCm39)	V3A	probably benign	Het
Brap	T	C	5: 121,813,365 (GRCm39)	S243P	probably damaging	Het
Ckap2l	C	A	2: 129,111,114 (GRCm39)	E694D	probably damaging	Het
Crmp1	G	A	5: 37,441,408 (GRCm39)	V497I	probably benign	Het
Dbx2	A	G	15: 95,522,741 (GRCm39)	V322A	possibly damaging	Het
Dll1	C	A	17: 15,590,513 (GRCm39)	C401F	probably damaging	Het
Dock10	T	C	1: 80,490,147 (GRCm39)	T1991A	probably damaging	Het
Dock3	C	T	9: 107,036,651 (GRCm39)	W42*	probably null	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Hdac1-ps	A	G	17: 78,800,287 (GRCm39)	E426G	probably damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Irs2	T	C	8: 11,054,961 (GRCm39)	N1157S	possibly damaging	Het
Kndc1	T	C	7: 139,502,667 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,748,185 (GRCm39)	N1241S	probably benign	Het
Or9g4b	T	C	2: 85,615,906 (GRCm39)	F17S	possibly damaging	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcdh17	T	A	14: 84,683,657 (GRCm39)	D41E	probably damaging	Het
Plg	T	G	17: 12,597,595 (GRCm39)	L14R	probably damaging	Het
Prkab1	A	G	5: 116,158,092 (GRCm39)	V168A	probably benign	Het
Prr35	G	C	17: 26,166,689 (GRCm39)	P283A	probably benign	Het
Ptdss1	C	T	13: 67,101,595 (GRCm39)	R95*	probably null	Het
Rab3gap2	T	G	1: 184,980,062 (GRCm39)	S327A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Homo
Sdr42e2	T	C	7: 120,425,332 (GRCm39)	S308P	probably damaging	Het
Senp8	C	A	9: 59,644,473 (GRCm39)	V228L	probably benign	Het
Serpina10	A	T	12: 103,594,628 (GRCm39)	I197K	probably benign	Het
Serpinb6d	A	G	13: 33,854,718 (GRCm39)	N231S	probably benign	Het
Sez6l2	T	C	7: 126,567,177 (GRCm39)	V869A	probably damaging	Het
Sgo2b	T	A	8: 64,380,769 (GRCm39)	K688*	probably null	Het
Sh3kbp1	A	T	X: 158,624,176 (GRCm39)	E39D	probably benign	Homo
Ufsp2	T	C	8: 46,438,504 (GRCm39)	M194T	probably benign	Het
Ush2a	T	C	1: 188,485,881 (GRCm39)	I2997T	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,637 (GRCm39)	G730D	probably damaging	Het
Wdr72	T	C	9: 74,059,822 (GRCm39)	Y411H	possibly damaging	Het
Xirp2	T	C	2: 67,343,212 (GRCm39)	S1818P	possibly 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
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
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'- ATAGAGGCTCCCGCAAATGG -3'
(R):5'- CACAGTCATCTGCAGGGAATTC -3'

Sequencing Primer
(F):5'- CTCCCGCAAATGGAATGATAAAAG -3'
(R):5'- CTGCAGGGAATTCATATATTGCTTG -3'

Posted On

2018-08-01