Mutagenetix > Incidental Mutation

Incidental Mutation 'R8341:Camkmt'

644920

Institutional Source

Beutler Lab

Gene Symbol

Camkmt

Ensembl Gene

ENSMUSG00000071037

Gene Name

calmodulin-lysine N-methyltransferase

Synonyms

1700106N22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85090726-85458139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85439580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 251 (L251P)

Ref Sequence

ENSEMBL: ENSMUSP00000092811 (fasta)

Gene Model

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

AlphaFold

Q3U2J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000095188
AA Change: L251P

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

SMART Domains

Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: L251P

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932429P05Rik	A	T	X: 89,754,716	K718M	probably damaging	Het
Abca8b	T	A	11: 109,955,050	I915F	probably damaging	Het
Adam11	C	A	11: 102,776,536	H641N	probably damaging	Het
Amfr	A	G	8: 93,999,178	S192P	probably damaging	Het
Ano9	T	A	7: 141,102,334	N676I	possibly damaging	Het
Arfgef1	C	T	1: 10,154,328	V1428I	probably benign	Het
B3gnt9	C	T	8: 105,253,865	R297H	probably benign	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
C1s1	C	T	6: 124,531,156	A625T	probably damaging	Het
Ceacam15	C	A	7: 16,672,003	V208F	probably benign	Het
Clp1	T	C	2: 84,723,773	K351E	probably damaging	Het
Csmd3	T	C	15: 47,698,151	Y1343C		Het
Cubn	C	A	2: 13,428,724	G1125V	probably damaging	Het
Dpp4	C	T	2: 62,347,890	V633I	probably benign	Het
Eif2ak1	A	T	5: 143,884,937	D357V	probably benign	Het
Fez1	T	C	9: 36,876,309	M370T	possibly damaging	Het
Frk	G	A	10: 34,586,283	E257K	probably damaging	Het
Gm7579	T	A	7: 142,212,119	C87*	probably null	Het
Henmt1	T	C	3: 108,958,592	V211A	probably damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ints9	T	A	14: 65,036,414	V556E	probably benign	Het
Klhl41	T	C	2: 69,670,524	S110P	probably benign	Het
Klrk1	T	C	6: 129,622,700		probably benign	Het
Kmt2e	A	T	5: 23,499,453	S1215C	probably damaging	Het
Lyn	T	C	4: 3,743,304		probably null	Het
Map2k5	T	A	9: 63,339,098	N116Y	probably damaging	Het
Map3k13	G	T	16: 21,921,584	E554*	probably null	Het
Map6	A	G	7: 99,268,440	E140G	possibly damaging	Het
Mpv17	A	C	5: 31,154,103		probably null	Het
Myo1c	C	T	11: 75,671,427	P883S	probably benign	Het
Myo7b	T	C	18: 31,983,926	M914V	probably benign	Het
Olfm2	C	T	9: 20,672,622		probably null	Het
Olfr124	G	A	17: 37,805,652	C169Y	probably damaging	Het
Osbpl7	T	G	11: 97,060,163	L612R	probably damaging	Het
Polq	A	T	16: 37,071,771	M2012L	possibly damaging	Het
Ppp1r7	G	A	1: 93,346,278	D59N	probably benign	Het
Ptbp1	A	C	10: 79,863,211	E534D	probably benign	Het
Qser1	A	G	2: 104,789,475	Y241H	probably damaging	Het
Rbx1	T	C	15: 81,473,877	L88P	probably damaging	Het
Rft1	T	C	14: 30,689,881	L462P	probably damaging	Het
Serpinb9f	T	A	13: 33,327,307	L77*	probably null	Het
Shisa9	T	C	16: 11,997,151	M221T	possibly damaging	Het
Slc12a2	T	G	18: 57,879,209	F135V	possibly damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc44a2	T	C	9: 21,342,199	F88L	probably benign	Het
Snx21	A	G	2: 164,791,885	E197G	probably damaging	Het
Srarp	T	C	4: 141,433,396	D42G	possibly damaging	Het
Ssfa2	A	T	2: 79,657,718	K715I	probably damaging	Het
St6galnac1	T	A	11: 116,768,888	M200L	probably benign	Het
Stambpl1	A	T	19: 34,234,001	Q154L	probably benign	Het
Szt2	G	T	4: 118,392,836	R492S	possibly damaging	Het
Thbs3	G	A	3: 89,225,391	R880Q	probably benign	Het
Tnks	A	T	8: 34,873,045	L473H	probably damaging	Het
Ttc4	A	G	4: 106,665,696	S342P	probably benign	Het
Uckl1	T	A	2: 181,569,719	M463L	probably benign	Het
Unc80	T	C	1: 66,649,033	S2397P	possibly damaging	Het
Vmn2r73	T	A	7: 85,857,920	H728L	probably benign	Het
Vsig10l	T	C	7: 43,463,954	V110A	probably damaging	Het
Zgrf1	T	A	3: 127,560,915	L61*	probably null	Het
Zswim5	A	G	4: 116,986,792	Y1009C	probably damaging	Het

Other mutations in Camkmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Camkmt	APN	17	85096666	splice site	probably benign
IGL00786:Camkmt	APN	17	85096491	missense	probably damaging	0.99
IGL00840:Camkmt	APN	17	85458123	nonsense	probably null
IGL02604:Camkmt	APN	17	85096625	missense	possibly damaging	0.74
IGL02809:Camkmt	APN	17	85394648	missense	probably damaging	1.00
R0465:Camkmt	UTSW	17	85431522	missense	probably damaging	0.99
R0537:Camkmt	UTSW	17	85394659	missense	probably benign	0.01
R1573:Camkmt	UTSW	17	85096530	missense	probably damaging	0.98
R2442:Camkmt	UTSW	17	85090775	missense	possibly damaging	0.51
R2878:Camkmt	UTSW	17	85431551	splice site	probably benign
R5121:Camkmt	UTSW	17	85096581	missense	probably benign	0.00
R5174:Camkmt	UTSW	17	85452237	missense	probably benign
R6006:Camkmt	UTSW	17	85452238	missense	possibly damaging	0.71
R6587:Camkmt	UTSW	17	85113815	missense	possibly damaging	0.74
R6726:Camkmt	UTSW	17	85394609	missense	probably damaging	0.98
R7301:Camkmt	UTSW	17	85431493	missense	probably benign	0.10
R7523:Camkmt	UTSW	17	85391628	missense	probably benign	0.01
R7911:Camkmt	UTSW	17	85452438	splice site	probably null
R8691:Camkmt	UTSW	17	85113832	missense	probably damaging	1.00
R8710:Camkmt	UTSW	17	85113849	critical splice donor site	probably benign
R9049:Camkmt	UTSW	17	85402484	missense	possibly damaging	0.68
R9119:Camkmt	UTSW	17	85096560	missense	probably damaging	1.00
R9652:Camkmt	UTSW	17	85452285	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ATACCTCCAGCAAGACCTTGAG -3'
(R):5'- GCTTCCTAGTTATGATCAGGAAAGAAC -3'

Sequencing Primer
(F):5'- CAGCAAGACCTTGAGCGAGC -3'
(R):5'- CATCTCTGTGCTCAGACTAA -3'

Posted On

2020-09-02