Mutagenetix > Incidental Mutation

Incidental Mutation 'R9119:Camkmt'

692701

Institutional Source

Beutler Lab

Gene Symbol

Camkmt

Ensembl Gene

ENSMUSG00000071037

Gene Name

calmodulin-lysine N-methyltransferase

Synonyms

1700106N22Rik

MMRRC Submission

068922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9119 (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 85403988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 70 (L70Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092811 (fasta)

Gene Model

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

AlphaFold

Q3U2J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000095188
AA Change: L70Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: L70Q

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Aass	A	T	6: 23,094,000 (GRCm39)	M517K	probably benign	Het
Abcc4	A	G	14: 118,868,442 (GRCm39)	V245A	probably benign	Het
Adgrv1	A	G	13: 81,658,995 (GRCm39)	V2783A	probably damaging	Het
Anxa3	T	A	5: 96,976,557 (GRCm39)	I181N		Het
Ap4m1	T	A	5: 138,174,303 (GRCm39)		probably benign	Het
C1ql1	T	A	11: 102,836,879 (GRCm39)	K137*	probably null	Het
Ceacam18	T	C	7: 43,288,909 (GRCm39)	L220P	probably benign	Het
Celsr2	C	T	3: 108,309,288 (GRCm39)	A1656T	possibly damaging	Het
Dnah6	T	C	6: 73,037,186 (GRCm39)	N3352S	possibly damaging	Het
Fbxo40	C	A	16: 36,786,457 (GRCm39)	R704L	probably damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Gas2l3	T	C	10: 89,249,319 (GRCm39)	T600A	possibly damaging	Het
Ggh	T	A	4: 20,057,955 (GRCm39)	M172K	probably damaging	Het
Gpr137	G	A	19: 6,915,811 (GRCm39)	T373I	probably benign	Het
Kpna2rt	T	C	17: 90,217,621 (GRCm39)	K42E	probably damaging	Het
Mtnr1a	G	A	8: 45,541,003 (GRCm39)	M321I	probably benign	Het
Nebl	T	G	2: 17,405,370 (GRCm39)	N383T	probably damaging	Het
Nob1	A	G	8: 108,142,776 (GRCm39)	S302P	probably damaging	Het
Ofcc1	A	T	13: 40,334,016 (GRCm39)	H358Q	probably benign	Het
Or6b3	G	T	1: 92,438,904 (GRCm39)	T282K	probably damaging	Het
Pkd1l1	G	A	11: 8,829,107 (GRCm39)	T1495I		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb4	G	A	2: 135,809,872 (GRCm39)	E609K	probably damaging	Het
Plxnd1	A	T	6: 115,932,832 (GRCm39)		probably benign	Het
Prdm2	G	A	4: 142,858,449 (GRCm39)	Q1614*	probably null	Het
Psg21	T	G	7: 18,381,409 (GRCm39)	K378T	probably benign	Het
Ptprh	T	A	7: 4,555,712 (GRCm39)	N749I	probably benign	Het
Ric8b	T	G	10: 84,783,334 (GRCm39)	V64G	possibly damaging	Het
Sbf2	T	C	7: 109,911,292 (GRCm39)	T1793A	possibly damaging	Het
Scgb1c1	A	G	7: 140,426,135 (GRCm39)	H77R	probably null	Het
Sfswap	C	A	5: 129,591,829 (GRCm39)	T282N	probably benign	Het
Sorcs3	A	T	19: 48,642,433 (GRCm39)	Y362F	possibly damaging	Het
Spata31h1	T	C	10: 82,131,553 (GRCm39)	T486A	probably benign	Het
Tpm4	A	G	8: 72,892,525 (GRCm39)	N76D	probably benign	Het
Tpr	T	A	1: 150,279,753 (GRCm39)	L294Q	probably damaging	Het
Ttc3	C	T	16: 94,192,950 (GRCm39)	T237I	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ugt2a2	A	G	5: 87,610,834 (GRCm39)	V334A	probably damaging	Het
Usp38	A	T	8: 81,711,228 (GRCm39)	F936I	probably damaging	Het
Utp14b	A	G	1: 78,643,025 (GRCm39)	K308E	probably damaging	Het
Vmn2r19	C	T	6: 123,292,527 (GRCm39)	P190S	possibly damaging	Het
Zbbx	T	C	3: 74,985,897 (GRCm39)	E385G	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
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
R9652:Camkmt	UTSW	17	85,759,713 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCACTACTCGGGTATGGTCTTAAG -3'
(R):5'- AGTAGGCATGGAGCTCTGAG -3'

Sequencing Primer
(F):5'- GTGTTCAGCACAAAGTTAGTCTG -3'
(R):5'- AGTGCATGGGTTTCCTTCTACAGAC -3'

Posted On

2021-12-30